hu02C8E3 - GET-Evidence variant report

Variant report for hu02C8E3

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
2MBL2-G54DLowLikelyLikely pathogenic

Recessive, Homozygous
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
3AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
4KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).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, Homozygous
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
7RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
8SP110-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
9HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
10ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
11TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
12DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
13CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
14ABCC6-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
15rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
16FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
17PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
18KCNJ11-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
19CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
20HTRA2-A141SLowLikelyLikely benign

Unknown, Heterozygous
0.016814Probably benign. One report proposed an association with increased risk for Parkinson's disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease.1
21NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
22MYO1A-V306MLowLikelyLikely benign

Unknown, Heterozygous
0.00622792Probably benign. Other variants in this gene implicated in causing autosomal dominant nonsyndromic deafness. This variant was also considered potentially pathogenic, but subsequent allele frequency data strongly contradicts such a hypothesis.1
23EFHC1-R182HLowLikelyLikely benign

Unknown, Heterozygous
0.0439673Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.1
24SLC45A2-E272KLowLikelyLikely benign

Unknown, Heterozygous
0.0290946Pigmentation allele for black hair in Caucasian population.1
25MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
26RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Homozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
27TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
28COL5A2-P460SLowUncertainUncertain benign

Unknown, Heterozygous
0.0400632Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.1
29VWF-G2705RLowUncertainUncertain benign

Unknown, Heterozygous
0.0460123Probably benign, seems to be considered an uncommon polymorphism.1
30LRRK2-N2081DLowUncertainUncertain benign

Unknown, Heterozygous
0.0135738Reported as a rare, nonpathogenic variant.1
31MAPT-Q230RLowUncertainUncertain benign

Unknown, Heterozygous
0.0420019Common polymorphism.1
32TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
33RAPSN-R58CLowUncertainUncertain benign

Unknown, Heterozygous
0.0778026Reported as non-pathogenic polymorphism. 1
34BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
35APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
36AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
37ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
38NEUROD1-P197HLowUncertainUncertain benign

Unknown, Heterozygous
0.0200781Tentatively presumed benign. Other disruptive mutations in this gene have been reported to cause type 2 diabetes in a dominant manner, but this was found in a PGP participant who does not report having the disease.1
39PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
40TAS2R38-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
41SLC45A2-L374FLowUncertainUncertain benign

Unknown, Heterozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
42RP1-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
43PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
44TAS2R38-A49PLowUncertainUncertain benign

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

Exome coverage: 31126420 / 33212919 = 93.72%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2834799608993243986138955553-955753, 957581-957641, 957668-957733, 957754-957842, 970657-970704, 976045-976049, 976070-976260, 976553-976765, 976858-977034, 977043, 977055-977082, 977377, 977390-977391, 977395-977404, 977416-977456, 977476, 977508-977542, 978619-978620, 978635-978650, 978663-978781, 978796-978818, 978921-978923, 978936-978958, 978967-978968, 978975, 978984-979099, 979203-979220, 979240-979334, 979348-979384, 979395-979401, 979489-979544, 979551, 979562-979577, 979600, 979606-979637, 979727-979728, 979738, 979752-979753, 979778, 979786, 979804, 980560-980588, 980601-980625, 980641, 980649-980657, 980767, 980777-980787, 980795-980798, 980851, 980855, 980881-980903, 981113-981156, 981192-981193, 981198-981203, 981212-981219, 981230-981256, 981344-981362, 981373-981374, 981427-981429, 981545-981588, 981616-981645, 981777-981801, 981808-981879, 981891-981897, 981902-981918, 981922-981968, 981974-982100, 982200-982293, 982300-982326, 982721-982745, 982755-982782, 982804-982834, 982955-982974, 982986-983028, 983156-983166, 983172-983237, 983246-983259, 983392-983482, 983498-983745, 984247-984401, 984411-984439, 984616-984831, 984947-984948, 984954, 984975-985037, 985042-985051, 985061-985072, 985085-985147, 985154-985175, 985284-985291, 985306, 985317-985335, 985341-985390, 985405, 985620-985676, 985694, 985699, 985706, 985807-985830, 985842-985892, 985916-985942, 986141-986213, 986633-986749, 986833-986919, 986950-986973, 986994-987025, 987108-987162, 987173-987179, 987184-987195, 989205-989208, 989212-989214, 989222, 989291, 989828-989849, 989870-989892, 989898-989899, 989902-989906, 989916, 990228, 990242-990319, 990326, 990329, 990347-990351
2GABRD10.6239882266372351113591950863-1950930, 1956463-1956469, 1957037-1957040, 1957052-1957085, 1957112-1957120, 1957130-1957135, 1957156-1957170, 1959043-1959052, 1959708-1959718, 1960550-1960563, 1960584-1960617, 1960637-1960676, 1960997-1961019, 1961028-1961085, 1961141-1961190, 1961201, 1961430-1961498, 1961530-1961531, 1961536-1961550, 1961552, 1961660-1961684, 1961699, 1961708-1961721
3PEX1010.681957186544343129812337205-2337214, 2337270-2337273, 2337924-2337942, 2337952, 2337988-2338003, 2338030-2338038, 2338164-2338184, 2338192, 2338255-2338297, 2338318-2338334, 2339997-2340039, 2340100-2340107, 2340178-2340194, 2340262, 2340265-2340266, 2340271-2340272, 2343830-2343869, 2343884-2343941
4NPHP410.9259518804017831742815924454-5924455, 5925216, 5925267, 5925320, 5927107, 5934563, 5934643-5934657, 5934695-5934698, 5935041-5935043, 5935078, 5935108-5935113, 5935118-5935121, 5935138-5935160, 5947470-5947519, 5950949-5950963, 5951016, 6021892, 6027362, 6029157-6029194, 6029206, 6029252, 6038330-6038473, 6046251-6046252
5ESPN10.58986354775828105225656485016-6485151, 6485165-6485197, 6485206-6485215, 6485220, 6485224-6485294, 6485301, 6488289-6488337, 6488377-6488392, 6488426-6488432, 6488462-6488479, 6500355-6500358, 6500382-6500492, 6500692, 6500708, 6500712, 6500726, 6500741, 6500751-6500800, 6500813-6500868, 6501026-6501065, 6501097-6501103, 6505726-6505754, 6505845-6505864, 6505872-6505920, 6505931-6505937, 6508701-6508734, 6508747-6508766, 6508807-6508839, 6508851-6508857, 6508881-6508928, 6508959-6508964, 6508976, 6508979, 6508985, 6509080-6509106, 6509139-6509151, 6511677-6511709, 6511735-6511757, 6511907-6511942, 6512106-6512133, 6520082-6520102
6PLEKHG510.972091564753848931896527909, 6528025-6528027, 6528235-6528258, 6530342-6530357, 6530850-6530858, 6531568-6531570, 6532623, 6533410-6533414, 6534089, 6534201-6534204, 6534558-6534562, 6534570-6534574, 6556607, 6556620-6556626, 6557380-6557383
7PEX1410.78130511463845248113410535054-10535056, 10659328-10659335, 10683105-10683117, 10684410-10684411, 10684422-10684453, 10687420, 10689605-10689608, 10689644-10689672, 10689742-10689769, 10689786-10689796, 10689842-10689914, 10689948-10689974, 10690008-10690024
8TARDBP10.9598393574297250124511080649, 11082322-11082362, 11082530, 11082599-11082605
9MASP210.71130519165454595206111097776, 11097814, 11097840, 11102932-11102934, 11102940-11102983, 11102987-11102994, 11103016-11103075, 11103396-11103462, 11103492-11103590, 11105465-11105519, 11105538-11105596, 11106616, 11106624-11106625, 11106634-11106677, 11106688-11106690, 11106702, 11106716-11106717, 11106750-11106753, 11106768-11106772, 11106785-11106788, 11106955, 11106976-11107013, 11107022, 11107068-11107094, 11107110-11107150, 11107159-11107176, 11107260-11107264
10PLOD110.91941391941392176218411994837, 11994866, 11994875, 12008033-12008046, 12009900, 12010514-12010520, 12012704-12012707, 12016998, 12017949, 12018688-12018704, 12020741, 12023662, 12023678-12023680, 12024266, 12024271-12024279, 12024293-12024294, 12024749-12024767, 12024806-12024842, 12026327-12026328, 12026340, 12030757-12030758, 12030763-12030764, 12030773-12030817, 12034742, 12034747, 12034790
11MFN210.999560246262091227412067115
12CLCNKA10.8531976744186303206416353201-16353238, 16354391-16354397, 16354513-16354514, 16355649, 16355652, 16355691, 16355699, 16355716, 16356460-16356473, 16356502-16356508, 16356956-16356979, 16356990-16357019, 16357025-16357070, 16357108-16357154, 16358228-16358274, 16358728, 16358738-16358739, 16358768-16358783, 16358941-16358950, 16360106-16360112
13CLCNKB10.88856589147287230206416377385-16377386, 16377425, 16377469-16377471, 16377481-16377485, 16377515-16377532, 16378017, 16378205-16378218, 16378246, 16378279-16378299, 16378311-16378315, 16378693-16378705, 16378719, 16378766-16378803, 16378814-16378852, 16378877-16378879, 16378895, 16380169-16380171, 16380205, 16381972-16382001, 16382014, 16382175, 16382178-16382182, 16382232-16382253, 16383365
14ATP13A210.93084956251764245354317312731-17312768, 17312794-17312797, 17312810, 17312813, 17312973-17312976, 17313046-17313048, 17313602-17313609, 17313621-17313629, 17313633, 17313676-17313679, 17314942, 17314952-17314955, 17314966, 17320272-17320279, 17322472-17322474, 17322622-17322628, 17322900-17322928, 17322985-17322989, 17323516, 17323535-17323582, 17323668-17323670, 17326508-17326533, 17326558-17326567, 17326619-17326634, 17326750-17326755, 17326905, 17326908, 17338232-17338233
15ALDH4A110.85283687943262249169219200981-19200989, 19201956, 19202917, 19202926, 19203925, 19203947-19203977, 19204011-19204013, 19204025, 19208205-19208206, 19208262-19208267, 19208317-19208327, 19208331, 19208336-19208337, 19209638-19209676, 19209681, 19209687-19209692, 19209773-19209806, 19209827-19209831, 19209875-19209878, 19209913-19209922, 19211993, 19212016, 19212021-19212023, 19212031-19212047, 19213004-19213005, 19215911, 19216506-19216533, 19216561, 19216574-19216579, 19216584-19216599, 19228956-19228959
16PINK110.997709049255444174620960123-20960125, 20960260
17ALPL10.994920634920638157521887125, 21896847-21896848, 21896854-21896858
18HSPG210.96083788706745161317622149879-22149900, 22149920-22149938, 22150179-22150185, 22150849, 22150852, 22151068, 22151103, 22151197, 22154581-22154588, 22154627-22154632, 22154798, 22155421-22155436, 22155555, 22155953-22155959, 22155968, 22165472-22165475, 22167653-22167655, 22168061-22168067, 22168610-22168611, 22169359, 22170765, 22172621-22172634, 22173891, 22173894-22173895, 22173927, 22174533-22174538, 22175461-22175470, 22175521, 22175524, 22176600, 22176665-22176666, 22176669-22176672, 22176871-22176880, 22176971-22176975, 22178067-22178071, 22178079, 22178314-22178328, 22178332, 22178366-22178369, 22178591-22178594, 22178663, 22181137, 22181140-22181143, 22181211-22181215, 22181341-22181345, 22181415-22181453, 22182050, 22186102-22186107, 22186121, 22186154-22186165, 22186341-22186347, 22186361-22186453, 22186477-22186480, 22186490-22186494, 22186706-22186717, 22186720, 22191373-22191377, 22191818-22191820, 22198825, 22198828, 22199142-22199154, 22199208, 22199507-22199524, 22200996, 22207016-22207029, 22263648-22263710
19WNT410.9185606060606186105622456123-22456128, 22456323-22456325, 22469339-22469415
20HMGCL10.99488752556237597824134718-24134722
21FUCA110.9821556031406125140124194407, 24194424-24194426, 24194488, 24194572, 24194630-24194631, 24194635-24194637, 24194690, 24194712-24194723, 24194741
22LDLRAP110.983818770226541592725870250-25870264
23SEPN110.89028776978417183166826126722-26126904
24YARS10.9792060491493433158733256786-33256818
25ZMPSTE2410.999299719887961142840737645
26KCNQ410.8544061302682304208841249766-41249840, 41249851-41249972, 41249985, 41250000-41250013, 41250016-41250041, 41250068-41250071, 41284249-41284308, 41284318-41284319
27CLDN1910.98814814814815867543203968, 43203980-43203981, 43205726-43205730
28LEPRE110.9615558570782585221143212387-43212394, 43212943-43212952, 43232257, 43232381-43232404, 43232503-43232527, 43232596-43232612
29STIL10.997672614429799386747765794-47765801, 47767947
30DHCR2410.996776273372025155155352601-55352605
31PCSK910.9807599807599840207955505553-55505555, 55521669, 55521672-55521674, 55521777-55521783, 55521815-55521819, 55521822, 55521844-55521862, 55524244
32LEPR10.999428244711262349866058406-66058407
33DPYD10.99902534113063307898060622-98060624
34AGL10.9993476842791934599100346321-100346323
35COL11A110.99303646692322385457103364243-103364271, 103412486-103412494
36GSTM110.47945205479452342657110230496-110230531, 110230792-110230823, 110230854, 110231295, 110231299-110231305, 110231691, 110231724-110231737, 110231862-110231947, 110232904-110232988, 110233076-110233142, 110235906-110235917
37VANGL110.99111111111111141575116226655-116226656, 116227958-116227967, 116228048-116228049
38NOTCH210.980717367853291437416120539665-120539714, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120611988-120611992, 120612006
39FLG10.82323978335795215412186152276266-152276279, 152276422-152276428, 152276490, 152276623-152276631, 152276709-152276742, 152276904-152276905, 152277226-152277269, 152277285-152277295, 152277386-152277410, 152277432-152277440, 152277521-152277557, 152278044-152278059, 152278238-152278251, 152278361, 152278406-152278437, 152278626-152278632, 152279202-152279239, 152279331, 152279366, 152279403-152279409, 152279465, 152279469, 152279601, 152279625-152279668, 152279695-152279701, 152279741, 152279747, 152279750, 152279837-152279852, 152280002, 152280008, 152280083-152280119, 152280164, 152280219, 152280282-152280309, 152280350-152280370, 152280468-152280510, 152280547-152280549, 152280573, 152280593-152280609, 152280627-152280639, 152280671, 152280691-152280693, 152280705, 152280864, 152280909, 152280915, 152280960-152280976, 152281038-152281074, 152281142-152281150, 152281224, 152281270, 152281285, 152281319-152281334, 152281388-152281389, 152281401-152281403, 152281523-152281524, 152281534, 152281545-152281547, 152281590-152281596, 152281600-152281605, 152281641-152281669, 152281688, 152281691-152281694, 152281742, 152281752-152281792, 152281798-152281822, 152281875, 152281917-152281925, 152281958-152281994, 152282076-152282125, 152282175-152282216, 152282236-152282242, 152282257-152282290, 152282293-152282297, 152282337-152282386, 152282412-152282449, 152282466, 152282483-152282528, 152282547-152282593, 152282645, 152282693-152282694, 152282706, 152282753, 152282833-152282854, 152282887-152282924, 152283078, 152283083, 152283090-152283099, 152283168, 152283190-152283229, 152283267-152283270, 152283302-152283338, 152283407-152283438, 152283449-152283460, 152283513-152283519, 152283524, 152283626-152283627, 152283736-152283744, 152283781-152283804, 152283835-152283873, 152283948, 152283968, 152283976, 152283981-152283986, 152283989-152283990, 152284010-152284016, 152284044-152284071, 152284077-152284079, 152284167-152284188, 152284241-152284357, 152284398, 152284409-152284410, 152284413, 152284421-152284453, 152284527, 152284571-152284587, 152284665-152284708, 152284816-152284857, 152284914-152284915, 152284937-152284943, 152285035-152285043, 152285119-152285123, 152285131-152285137, 152285165-152285198, 152285219-152285221, 152285230, 152285244, 152285289, 152285352, 152285358, 152285391-152285420, 152285499-152285540, 152285577-152285581, 152285629, 152285648, 152285680, 152285686, 152285694-152285696, 152285806-152285844, 152285885-152285919, 152285981, 152286121-152286123, 152286140-152286175, 152286186-152286194, 152286303-152286337, 152286373-152286406, 152286441, 152286827, 152286842-152286848, 152286882-152286884, 152286951, 152286994-152287036, 152287082, 152287819, 152287849, 152287858
40CHRNB210.98674618952949201509154540559-154540578
41PKLR10.98608695652174241725155269977-155270000
42LMNA10.9559082892416225567156104989-156104995, 156105081-156105098
43LMNA10.95137844611529971995156104989-156104995, 156105081-156105098, 156108325, 156108352-156108386, 156108441-156108476
44SEMA4A10.97900262467192482286156130724, 156131137-156131162, 156131218-156131221, 156131224, 156131230-156131245
45NTRK110.9857800083647342391156830727-156830747, 156830779-156830791
46F510.979325842696631386675169510256-169510296, 169510351-169510383, 169510499-169510548, 169510647-169510653, 169511618-169511624
47DARS210.998452012383931938173794408, 173795918-173795919
48CFH10.98647186147186503696196715005-196715011, 196716353-196716395
49CFHR110.997985901309162993196801042, 196801078
50CACNA1S10.9991106367840655622201012559-201012563
51PKP110.99449793672627122181201282469-201282475, 201282559-201282563
52PSEN210.9970304380103941347227071480-227071483
53ADCK310.640946502057616981944227149089-227149112, 227149196, 227149227, 227149230-227149231, 227149257-227149263, 227152702-227152740, 227152773, 227152788-227152844, 227152857, 227152879-227152881, 227152887-227152929, 227152934, 227152970-227153017, 227153035-227153111, 227153372-227153411, 227153424, 227165161-227165164, 227169762-227169818, 227170406-227170417, 227170456-227170463, 227170595-227170606, 227170651-227170652, 227170661-227170678, 227170688-227170690, 227170699-227170731, 227171268-227171275, 227171328, 227171464-227171516, 227171537-227171555, 227171795-227171825, 227171884-227171918, 227171932, 227172277-227172288, 227172955-227172975, 227173029-227173032, 227174219-227174222, 227174320, 227174415, 227174425-227174435, 227174438
54GJC210.390151515151528051320228345460-228345471, 228345500-228345509, 228345518-228345543, 228345551-228345601, 228345639-228345641, 228345656-228345657, 228345736-228345769, 228345779-228345842, 228345854-228345858, 228345861-228345863, 228345865-228345926, 228345975-228345978, 228345993-228346019, 228346042-228346100, 228346110-228346118, 228346127-228346156, 228346159, 228346165, 228346169, 228346182-228346195, 228346227-228346272, 228346279-228346335, 228346355-228346444, 228346459-228346491, 228346500-228346617, 228346662-228346683, 228346722-228346734, 228346740, 228346744, 228346747, 228346775-228346779
55ACTA110.99118165784832101134229568017-229568018, 229568122-229568127, 229568325-229568326
56ACTN210.99627560521415102685236850015-236850023, 236850026
57NET1100.970407593523175317915454708-5454742, 5454766-5454783
58GATA3100.99775280898876313358100744-8100746
59OPTN100.9936562860438311173413151241, 13151246, 13151249-13151250, 13151272-13151278
60CUBN100.9999080206033811087217032435
61PTF1A100.8237082066869317498723481516-23481519, 23481557-23481590, 23481644-23481655, 23481671, 23481703-23481705, 23481732-23481775, 23481778, 23481901-23481952, 23481965-23481982, 23481991, 23482012-23482014, 23482157
62MASTL100.9954493742889612263727459009-27459010, 27459771, 27459774-27459775, 27470460-27470466
63RET100.94469357249626185334543572707-43572779, 43595968, 43596030-43596050, 43596096, 43596099-43596107, 43596111, 43596138, 43597981, 43597987-43597988, 43600416-43600425, 43600464-43600467, 43600511-43600513, 43600517-43600518, 43600555, 43600561, 43600566, 43600588-43600595, 43600604, 43600610, 43600619-43600624, 43606892-43606901, 43609093-43609095, 43609999, 43613826, 43613835, 43613870, 43615077-43615083, 43619131-43619140, 43619254-43619256
64ERCC6100.9948683623382423448250732355-50732358, 50738781-50738786, 50740820, 50740831, 50740834-50740844
65CHAT100.9635068980863482224750822269-50822281, 50822298, 50822326-50822337, 50822343-50822381, 50822410-50822420, 50822424, 50835778-50835782
66NODAL100.9693486590038332104472201240, 72201312, 72201325-72201342, 72201348, 72201367-72201377
67PCBD1100.9968253968254131572648290
68SLC29A3100.997198879551824142873082579-73082582
69CDH23100.974542561654732561005673437261-73437262, 73439214-73439247, 73442239-73442263, 73442320-73442329, 73447404-73447416, 73461949-73461960, 73462316-73462321, 73462330-73462333, 73462335-73462338, 73464774-73464810, 73464860-73464866, 73464875-73464887, 73472434, 73490279, 73490281-73490284, 73490297-73490299, 73490327, 73494081, 73499404-73499439, 73499467-73499470, 73550114-73550120, 73550160-73550164, 73550170, 73550997, 73551076-73551085, 73552969, 73556923-73556924, 73574901, 73574906-73574915
70VCL100.998237885462566340575758105-75758110
71LDB3100.9565018315018395218488466302-88466330, 88466356, 88466400, 88466465, 88476084-88476087, 88476145, 88476170-88476188, 88476214-88476233, 88476395, 88476401, 88476475-88476491
72GLUD1100.9642218246869460167788854129-88854135, 88854415-88854425, 88854453, 88854457-88854463, 88854469-88854502
73HPS1100.9639126305793762106100177364-100177400, 100177403-100177407, 100177411-100177419, 100189548-100189572
74HPS6100.97594501718213562328103825319, 103825352, 103825442-103825446, 103825449-103825465, 103825498-103825502, 103825691-103825699, 103825743-103825744, 103826015-103826026, 103826238, 103826512-103826514
75EMX2100.9644268774703627759119302934-119302960
76BAG3100.999421296296311728121436228
77HTRA1100.744282744282743691443124221169-124221176, 124221183-124221258, 124221265-124221311, 124221320-124221390, 124221397-124221464, 124221471-124221507, 124221561-124221577, 124221586-124221617, 124221628-124221640
78UROS100.988721804511289798127477437-127477445
79HRAS110.67719298245614184570532636-532637, 532669-532675, 532694-532716, 532736-532737, 532745, 533505, 533529, 533766-533786, 533824, 533833-533878, 533934-533944, 534224-534252, 534279-534285, 534291-534322
80TALDO1110.784023668639052191014747482-747515, 747525, 747545-747578, 758966, 759015-759018, 763344-763364, 763374, 763393, 763406-763435, 763453-763459, 763499, 763768-763772, 763780, 763810, 763844-763845, 763878-763908, 763921-763924, 763930, 763934-763941, 764337-764350, 764392-764408
81SLC25A22110.15432098765432822972791915-791963, 791983-792020, 792029-792031, 792033, 792044-792068, 792142-792161, 792170-792175, 792181-792204, 792209, 792305-792407, 792423, 792435-792458, 792553-792727, 792870-792988, 793529-793559, 793566-793587, 793594, 793619, 794458-794511, 794776-794865, 794873-794885, 794891, 794987-795006
82PNPLA2110.566996699669976561515819719-819756, 819775-819778, 819780-819783, 819790-819905, 821636-821638, 821730-821755, 821811, 821824, 821965-821966, 821994-821997, 822465-822492, 823527, 823539-823540, 823702-823748, 823784, 823829-823832, 823835, 823840-823843, 823998, 824011-824017, 824025-824039, 824051-824071, 824097-824120, 824328, 824364, 824373, 824394-824436, 824525-824556, 824572-824618, 824657-824685, 824711-824813, 824819-824862
83CTSD110.3631961259079978912391774733-1774785, 1774791-1774792, 1774804-1774815, 1774835, 1774854-1774900, 1775033-1775131, 1775224-1775250, 1775260-1775326, 1775347-1775368, 1776145, 1778570-1778576, 1778584-1778589, 1778599-1778638, 1778734-1778742, 1778751-1778753, 1778778, 1778781, 1780199-1780317, 1780746, 1780758-1780770, 1780802-1780869, 1782539-1782590, 1782616-1782639, 1782647-1782692, 1785022-1785089
84TNNI2110.86338797814208755491861454-1861466, 1861635-1861659, 1861758-1861760, 1861768, 1861783, 1861802-1861804, 1861858, 1861861-1861862, 1862078-1862093, 1862261-1862266, 1862373-1862376
85TNNT3110.164736164736166497771946329-1946346, 1947925-1947939, 1950357-1950358, 1950369-1950373, 1951040-1951051, 1951057-1951058, 1953699-1953721, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955786, 1955796-1955814, 1955825-1955829, 1955837-1955844, 1955853-1955885, 1956059-1956149, 1958193-1958233, 1959668-1959722
86H19110.99813258636788210712017829, 2017834
87IGF2110.120956399437416257112154217-2154453, 2154761-2154895, 2156599-2156610, 2156616, 2156633-2156665, 2156672-2156699, 2156722, 2156734-2156756, 2161365-2161519
88TH110.12571428571429137715752185463-2185622, 2186462-2186595, 2186898-2186993, 2187244-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189102, 2189112-2189163, 2189337-2189409, 2189721-2189757, 2189767-2189838, 2189856-2189895, 2190893-2190938, 2190948-2190975, 2190984-2190988, 2191000-2191036, 2191040-2191089, 2191101, 2191920-2192000, 2192952-2192960, 2192970
89KCNQ1110.775480059084245620312466329-2466714, 2592561-2592567, 2593278-2593284, 2594143-2594155, 2604682-2604691, 2606473, 2606477-2606481, 2606537, 2610062-2610084, 2869105, 2869145, 2869156
90CDKN1C110.0378548895899059159512905234-2905359, 2905900-2905991, 2905999-2906531, 2906549-2906679, 2906687-2906719
91HBD110.9842342342342374445255652-5255658
92SMPD1110.99683544303797618966411931-6411936
93SBF2110.99729729729731555509838404-9838418
94KCNJ11110.997442455242973117317408776, 17408917, 17409321
95ABCC8110.9888327012220853474617498176-17498180, 17498276-17498323
96HPS5110.999705014749261339018339332
97LDHA110.996996996997399918422409-18422411
98SLC6A5110.999582289055971239420623007
99FANCF110.996444444444444112522646995-22646998
100WT1110.89189189189189168155432449545, 32456337-32456353, 32456484, 32456487, 32456522, 32456528, 32456533-32456534, 32456568, 32456571, 32456592-32456634, 32456647-32456693, 32456706-32456708, 32456717-32456757, 32456794-32456797, 32456843-32456846
101ALX4110.999190938511331123644286610
102SLC35C1110.991477272727279105645827668-45827669, 45827869, 45832535, 45832538-45832542
103PEX16110.9558117195004846104145935733, 45935736, 45937364, 45937367-45937372, 45939252-45939288
104F2110.9705724986623955186946747418-46747429, 46747439-46747455, 46747616, 46749563-46749583, 46750337-46750339, 46750369
105MADD110.99939320388353494447306502-47306504
106MYBPC3110.9362091503268244382547354142, 47354482, 47367829, 47367835, 47367895-47367909, 47367917-47367921, 47368983-47369003, 47369448-47369451, 47370006-47370010, 47370023, 47370040-47370045, 47370068-47370092, 47371333-47371364, 47371429-47371434, 47371445-47371454, 47371460-47371473, 47371572-47371602, 47371647, 47371651-47371652, 47372790-47372792, 47372897-47372926, 47373014-47373042
107SLC39A13110.9596774193548445111647436401-47436436, 47436601-47436609
108RAPSN110.992736077481849123947459545-47459551, 47460289, 47460306
109BEST1110.996587030716726175861723276, 61723281-61723284, 61723384
110BSCL2110.971922246220339138962472930-62472968
111SLC22A12110.374247894103491040166264359055-64359062, 64359067-64359083, 64359093-64359115, 64359127-64359175, 64359211-64359224, 64359229-64359240, 64359261-64359270, 64359286, 64359313-64359333, 64359347, 64359353, 64359364-64359365, 64359374-64359423, 64359427-64359429, 64360251-64360260, 64360267-64360288, 64360300-64360303, 64360312-64360333, 64360877-64360882, 64360893-64360894, 64360909-64360944, 64360948-64360951, 64360961-64360973, 64361001-64361023, 64361030-64361031, 64361107-64361138, 64361148-64361198, 64361224-64361242, 64361258-64361275, 64365988-64366041, 64366056-64366111, 64366283-64366347, 64366386-64366395, 64367148-64367216, 64367224-64367362, 64367852-64367885, 64367925-64367947, 64368209-64368291, 64368328-64368353, 64368391, 64368401-64368402, 64368407, 64368995
112PYGM110.93040727560301176252964518812, 64521000-64521001, 64521025-64521050, 64521093, 64521108-64521111, 64521114-64521115, 64521139-64521154, 64521351-64521371, 64521393-64521402, 64521407-64521411, 64521422-64521426, 64521430, 64521770-64521771, 64521787, 64522209, 64522304, 64526089, 64526131-64526149, 64527128-64527130, 64527138-64527190, 64527338
113MEN1110.8982683982684188184864572018, 64572042, 64572046, 64572049-64572051, 64572085, 64572135-64572177, 64572552-64572562, 64572567, 64573162-64573164, 64573208, 64575031-64575034, 64577174-64577176, 64577179, 64577259-64577307, 64577329, 64577363-64577377, 64577461, 64577487-64577519, 64577555-64577563, 64577570-64577575
114CST6110.99777777777778145065780301
115SPTBN2110.97755471908546161717366454968-66454974, 66468041, 66468092-66468099, 66468122, 66468127-66468131, 66468297, 66468309, 66468384, 66468388, 66468394-66468399, 66468404, 66468427, 66468503, 66468527-66468532, 66468547, 66472274, 66472290, 66472582-66472587, 66472625-66472632, 66472686-66472687, 66472760-66472765, 66472934, 66473247, 66473298, 66474987, 66475043, 66475053-66475054, 66475079-66475085, 66475099, 66475159-66475165, 66475240-66475261, 66475653-66475695, 66475736, 66476393, 66478097, 66483322-66483326
116PC110.694373763076051081353766616378, 66616381, 66616408, 66616463-66616482, 66616532, 66616704-66616706, 66616724-66616753, 66616789, 66616802-66616805, 66616829-66616841, 66617098-66617099, 66617118-66617152, 66617196-66617209, 66617250-66617271, 66617323-66617326, 66617408-66617413, 66617459, 66617477-66617479, 66617544-66617548, 66617719, 66617757, 66617798, 66617822-66617828, 66617876-66617898, 66617911-66617918, 66618147-66618195, 66618212, 66618249-66618273, 66618289-66618324, 66618362-66618384, 66618393-66618394, 66618542-66618587, 66618593-66618595, 66618598-66618600, 66618603-66618607, 66618655-66618657, 66618665-66618681, 66618704-66618709, 66618712, 66619928, 66619936-66619947, 66619974-66620012, 66620047-66620078, 66620096-66620125, 66620231, 66620771-66620818, 66620828-66620834, 66631245-66631266, 66631298-66631353, 66631412-66631417, 66633661-66633724, 66633740-66633741, 66633777, 66633785, 66636317-66636318, 66637785-66637803, 66637809-66637811, 66637846-66637863, 66637866-66637867, 66637873-66637876, 66638279-66638283, 66638287-66638290, 66638335-66638351, 66638356, 66638526-66638552, 66638554-66638559, 66638576-66638585, 66638613, 66638627-66638657, 66638663-66638668, 66638848, 66638862-66638910, 66638941-66638951, 66639160-66639199, 66639210-66639213, 66639215-66639220, 66639324, 66639341-66639342, 66639495-66639503, 66639560-66639590, 66639610-66639630
117CABP4110.7886473429951717582867222918-67222964, 67223012-67223018, 67223078-67223080, 67223128, 67223131, 67223164-67223180, 67223188, 67223659-67223674, 67223679-67223681, 67223850-67223893, 67225912, 67225921, 67225936-67225940, 67225943-67225950, 67225953-67225970, 67225978, 67226110
118AIP110.2084592145015178699367254477-67254479, 67254496-67254545, 67254570-67254587, 67254649, 67256738-67256926, 67257509-67257685, 67257787-67257928, 67258259-67258464
119NDUFS8110.898894154818336463367799669, 67799795-67799799, 67800433-67800471, 67800675-67800678, 67800687-67800689, 67800708, 67800713-67800720, 67803743-67803744, 67804010
120TCIRG1110.82711592458885431249367808764-67808773, 67808812-67808828, 67809220-67809223, 67810114-67810127, 67810134-67810144, 67810198-67810203, 67810268-67810298, 67810433-67810445, 67810456-67810462, 67810494-67810498, 67810887-67810905, 67810959-67810962, 67811114-67811120, 67811313-67811349, 67811353, 67811599-67811615, 67811637, 67811651-67811654, 67811657, 67811669, 67811792-67811811, 67812528-67812535, 67814909-67814919, 67815002-67815012, 67815152-67815156, 67815250, 67816402-67816413, 67816578-67816612, 67816718, 67816727-67816734, 67817184-67817202, 67817209-67817221, 67817227-67817239, 67817251-67817254, 67817456, 67817480-67817494, 67817507-67817509, 67817514, 67817520-67817525, 67817625-67817627, 67817981-67818001, 67818011, 67818082-67818086, 67818219-67818222
121LRP5110.744224422442241240484868080183-68080271, 68115668-68115686, 68125126, 68125269-68125272, 68125278, 68131237-68131239, 68131244-68131247, 68131297-68131304, 68131315-68131317, 68131326-68131338, 68131361-68131362, 68131387-68131411, 68133049, 68133133-68133150, 68153941-68153948, 68154016-68154063, 68154141-68154180, 68170985-68171022, 68171027-68171042, 68171081, 68171092-68171156, 68171165, 68174075-68174093, 68174116-68174146, 68174240-68174274, 68177382-68177389, 68177491-68177516, 68177527-68177536, 68178904-68178937, 68178956, 68179071-68179088, 68181187, 68181214-68181227, 68181273, 68181318-68181324, 68181337-68181387, 68181412, 68181457-68181480, 68183818-68183823, 68183859, 68191020-68191021, 68191029, 68191139, 68191157-68191164, 68192576-68192578, 68192585, 68192655, 68192684-68192702, 68193519-68193539, 68193608-68193611, 68197142-68197160, 68201096-68201116, 68201184, 68201225-68201284, 68201304, 68204357-68204371, 68204377, 68204400, 68204411, 68204417-68204419, 68204437, 68204446-68204453, 68204459-68204467, 68205985-68205986, 68205990-68205998, 68206004-68206048, 68206063-68206098, 68206126, 68206134, 68207245-68207284, 68207300, 68207310-68207315, 68207345-68207384, 68213904-68213928, 68213965-68213991, 68216284, 68216302-68216340, 68216351-68216353, 68216400, 68216408, 68216415-68216425, 68216450-68216475, 68216485-68216490, 68216513-68216518, 68216522-68216536
122CPT1A110.9793281653746848232268527693-68527718, 68552284-68552305
123IGHMBP2110.9808853118712357298268671445-68671470, 68671477-68671479, 68696733-68696759, 68703959
124DHCR7110.9845938375350122142871146521-71146540, 71146577, 71146626
125MYO7A110.686070998796632087664876841695-76841698, 76853755-76853773, 76853810-76853816, 76853852, 76858853-76858854, 76858890, 76858899-76858945, 76858953-76858996, 76866953-76866956, 76867984-76867986, 76867999, 76868002-76868004, 76868012-76868019, 76868027, 76868046, 76868372, 76868437, 76869323-76869327, 76869457-76869476, 76873263, 76873273-76873284, 76873350-76873363, 76873899-76873912, 76874006-76874026, 76877183-76877191, 76883794-76883931, 76885802-76885960, 76886418-76886510, 76888595-76888637, 76888647-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895640, 76895677, 76895697, 76895720-76895745, 76895757, 76900389-76900398, 76900408-76900411, 76900414, 76900445-76900452, 76900459, 76900462, 76900478-76900480, 76900514-76900515, 76901065-76901074, 76901091, 76901102, 76901105-76901110, 76901125-76901184, 76901759, 76901775, 76901809, 76901819, 76901824, 76901845-76901847, 76901863-76901864, 76901883-76901906, 76903147-76903153, 76903158, 76903181, 76903208, 76903224-76903257, 76903267-76903291, 76903321, 76908627-76908643, 76909549, 76909559-76909560, 76909569, 76909575, 76909585, 76919779, 76922304
126ALG8110.9936748893105610158177820488-77820497
127MTMR2110.997412008281575193295657107-95657111
128DYNC2H1110.99976825028969312945103043968-103043970
129ACAT1110.9992211838006211284108002634
130PTS110.997716894977171438112097167
131DRD2110.998498498498521332113281449-113281450
132APOA1110.991293532338317804116706720, 116706802-116706807
133FXYD2110.62557077625571164438117693034-117693040, 117693101-117693130, 117693241-117693298, 117693325, 117693328-117693330, 117693337-117693339, 117693347-117693349, 117693393-117693432, 117695375-117695393
134TECTA110.9989172467130776465120989164-120989166, 120989178, 120989188, 120989305-120989306
135ROBO3110.99543378995434194161124735490-124735493, 124735578-124735581, 124738888, 124738931-124738940
136ACAD8110.9959935897435951248134129511, 134129515-134129518
137WNK1120.99678276682053237149862888-862910
138CACNA2D4120.99912126537786334141904871-1904873
139CACNA1C120.99497027892093365612676744, 2794934-2794940, 2797833-2797850, 2797945, 2800307, 2800352-2800356
140VWF120.9630419331911931284426122647-6122650, 6125328-6125375, 6125722-6125728, 6125801-6125819, 6127532-6127538, 6127655-6127661, 6127726-6127744, 6127865-6127871, 6128064-6128087, 6128167-6128174, 6128228-6128263, 6128339-6128357, 6128449-6128451, 6128476-6128508, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166080-6166084
141TPI1120.794666666666671547506976731-6976764, 6976788-6976818, 6976825-6976845, 6978063-6978104, 6978428, 6978852, 6978906-6978908, 6979248-6979268
142ATN1120.99916036943745335737045892-7045894
143CDKN1B120.968174204355111959712871049-12871065, 12871127-12871128
144ABCC9120.999569892473122465022025633-22025634
145KRAS120.98947368421053657025380187, 25380291-25380295
146DNM1L120.998190863862514221132854460-32854461, 32866252, 32866295
147PKP2120.9773269689737557251433049443-33049453, 33049465-33049471, 33049495-33049501, 33049545-33049561, 33049619-33049633
148LRRK2120.9973628691983120758440618934, 40626085-40626087, 40629499, 40629502, 40629505, 40637415-40637418, 40646781-40646785, 40761522-40761525
149MLL2120.982364271096672931661449425798-49425802, 49426149-49426163, 49426622-49426642, 49426726-49426798, 49426852-49426871, 49427034-49427062, 49427114-49427121, 49427252, 49427315-49427323, 49427628-49427638, 49427649-49427685, 49431247-49431275, 49431287-49431288, 49431291-49431293, 49431498-49431500, 49431749-49431758, 49431834-49431842, 49431907-49431908, 49433323-49433325, 49434039-49434040, 49434050
150TUBA1A120.969298245614041445649522235-49522241, 49522383-49522389
151AQP2120.985294117647061281650347941-50347944, 50347947, 50349293-50349299
152KRT81120.9637681159420355151852684022-52684058, 52684899-52684905, 52685172-52685181, 52685193
153KRT86120.967830253251247146152696045-52696051, 52696893-52696932
154AAAS120.99817184643513164153703053, 53708550, 53708606
155ITGA7120.9959136018680714342656101429-56101442
156RPS26120.98563218390805534856436351-56436355
157CYP27B1120.999345121152591152758159900
158TSFM120.99897750511247197858176614
159CEP290120.9974462365591419744088519073-88519085, 88535007-88535012
160TMPO120.9875299760191826208598909790-98909791, 98909838-98909841, 98909886-98909895, 98927911, 98927914-98927919, 98928073-98928074, 98928078
161GNPTAB120.9981437284539973771102224433-102224439
162UNG120.993630573248416942109535559, 109535563-109535567
163ATP2A2120.9974432726110683129110719599, 110719666-110719672
164ATXN2120.866818873668195253942112036588-112036606, 112036616, 112036619-112036621, 112036627-112036630, 112036646-112036665, 112036679-112036838, 112036847-112036881, 112036890-112036896, 112036907-112036933, 112036951-112037090, 112037109, 112037120-112037144, 112037197-112037232, 112037256-112037302
165SDS120.992907801418447987113835104-113835106, 113836573-113836576
166HNF1A120.933016877637131271896121416600-121416606, 121416617-121416651, 121416693-121416700, 121416842, 121434358-121434361, 121434367, 121434372-121434376, 121435323-121435324, 121435330, 121435342, 121437359-121437370, 121437382-121437408, 121438886-121438908
167HPD120.9839255499154191182122285100, 122286965, 122286981, 122292686-122292687, 122294278-122294291
168PUS1120.879283489096571551284132414275-132414281, 132414286-132414295, 132414318, 132414331-132414334, 132414452-132414460, 132414471-132414501, 132414508-132414559, 132414574-132414598, 132414680, 132425976-132425982, 132425992, 132426008-132426010, 132426319, 132426400-132426401, 132426433
169PDX1130.99647887323944385228494591-28494593
170B3GALTL130.9712758851035443149731774222-31774243, 31774271-31774291
171FREM2130.98769716088328117951039261530, 39261533-39261534, 39261564-39261592, 39261617-39261649, 39261686-39261687, 39261846-39261849, 39261907-39261937, 39261965, 39261968-39261976, 39261994-39261998
172SLC25A15130.99227373068433790641382658-41382664
173SUCLA2130.99856321839082139248528294, 48528367
174RB1130.998205956225335278748878113-48878115, 49039181, 49039186
175GPC6130.998201438848923166893879847, 93879868-93879869
176ZIC2130.888680425265791781599100634390-100634412, 100634465-100634468, 100634591, 100634594-100634602, 100634682-100634693, 100634828-100634829, 100635008-100635013, 100635063-100635065, 100637631-100637633, 100637702-100637722, 100637758-100637761, 100637801-100637870, 100637879-100637889, 100637918-100637926
177PCCA130.99039780521262212187100741409, 100741418-100741423, 101101506-101101519
178COL4A1130.99021956087824495010110959322-110959368, 110959373-110959374
179F7130.143820224719111431335113760156-113760219, 113765004-113765128, 113765142-113765164, 113768081-113768090, 113768168-113768215, 113768242-113768272, 113769974-113770107, 113771085, 113771094-113771113, 113771128-113771129, 113771154-113771189, 113771787-113771802, 113771816-113771836, 113771855-113771910, 113772727-113773014, 113773024-113773049, 113773060-113773095, 113773117-113773322
180F10130.631220177232455411467113777170-113777189, 113777201-113777202, 113777209-113777239, 113798224-113798233, 113798292-113798332, 113798344-113798407, 113801756, 113801772-113801779, 113803230-113803242, 113803269-113803270, 113803292-113803316, 113803334-113803432, 113803456-113803465, 113803491-113803497, 113803521-113803592, 113803599-113803689, 113803700, 113803726-113803753, 113803777-113803780, 113803801-113803811, 113803831
181GRK1130.831560283687942851692114321726, 114321730-114321731, 114321753-114321795, 114321821, 114321847-114321848, 114321853, 114321857-114321861, 114321892, 114321906-114321934, 114321946-114321978, 114322026, 114322046, 114322134-114322179, 114322207-114322254, 114322358-114322372, 114325822-114325823, 114325866-114325867, 114325870-114325872, 114325941-114325971, 114426047-114426061, 114426065, 114426077-114426078
182RPGRIP1140.9979279979288386121769371, 21802849-21802855
183PABPN1140.923995656894687092123790700-23790714, 23790917-23790964, 23791005, 23791008-23791013
184NRL140.896358543417377471424550526-24550528, 24550555, 24550595-24550641, 24550690-24550691, 24551719-24551736, 24551895-24551896, 24552024
185PCK2140.999479979199171192324572446
186TINF2140.9697640117994141135624711485-24711525
187FOXG1140.69659863945578446147029236532-29236540, 29236586, 29236620-29236964, 29237035-29237083, 29237093-29237096, 29237177, 29237219, 29237266-29237270, 29237287-29237290, 29237303-29237326, 29237634, 29237637, 29237773
188COCH140.9933454325468811165331344173-31344178, 31344270-31344272, 31344278, 31344284
189CFL2140.9940119760479350135183744-35183746
190NKX2-1140.90464344941957115120636986599-36986602, 36986667, 36986692-36986709, 36986821-36986845, 36986864-36986905, 36986912-36986922, 36986925-36986927, 36986967, 36988362-36988364, 36988367-36988373
191MGAT2140.996279761904765134450088124-50088127, 50088133
192C14orf104140.94033412887828150251450100595, 50100603-50100605, 50100609, 50100630-50100637, 50100683-50100687, 50100725, 50100876-50100884, 50100944-50100951, 50100963, 50100983-50100985, 50101053, 50101113-50101145, 50101278, 50101370, 50101415-50101430, 50101462, 50101465, 50101470, 50101526-50101571, 50101795-50101803
193PYGL140.999213836477992254451410947, 51411120
194GCH1140.7848605577689216275355369084-55369090, 55369113-55369138, 55369146-55369161, 55369213-55369247, 55369255-55369301, 55369338-55369368
195VSX2140.9281767955801178108674706366-74706368, 74706381-74706393, 74706404-74706427, 74706431-74706432, 74706449-74706477, 74706479-74706482, 74706485-74706486, 74706511
196ESRRB140.9927963326784511152776964692, 76964695-76964704
197POMT2140.94185530403906131225377786777-77786795, 77786821-77786824, 77786847-77786888, 77786924-77786937, 77786958-77787009
198ATXN3140.997237569060773108692537355-92537357
199AMN140.04772393538913412971362103389033-103389068, 103390051, 103390058-103390099, 103390103-103390105, 103390117-103390143, 103390151-103390153, 103390163-103390166, 103390272-103390303, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992, 103395999-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
200INF2140.1834666666666730623750105167703-105167739, 105167774-105167801, 105167807, 105167824-105168023, 105168037-105168062, 105168073-105168093, 105169442-105169443, 105169458, 105169525-105169528, 105169632-105169699, 105169724-105169770, 105170253-105170276, 105170280, 105172372-105172462, 105172469-105172510, 105173247-105173258, 105173282-105173293, 105173299-105173355, 105173358-105173362, 105173371, 105173381-105173386, 105173590-105173605, 105173627, 105173651, 105173655, 105173683-105173688, 105173691-105173696, 105173708-105173738, 105173744-105174339, 105174773-105174924, 105175008-105175069, 105175618-105175654, 105175675-105175695, 105175701-105175707, 105175715-105175716, 105175720, 105175957-105176042, 105176425-105176525, 105177274-105177300, 105177337-105177344, 105177416-105177523, 105177993-105178022, 105178036, 105178770-105178856, 105178880-105178890, 105179165-105179329, 105179544-105179646, 105179782-105179883, 105179891-105179943, 105180540-105180550, 105180565, 105180576-105180587, 105180593, 105180636-105180842, 105180848-105180871, 105180880-105180994, 105181007-105181036, 105181042-105181193, 105181633
201NIPA1150.8202020202020217899023086234-23086411
202OCA2150.999602701628921251728273141
203TRPM1150.998753117206986481231332373-31332378
204IVD150.967213114754142128140698023-40698047, 40698139-40698155
205CHST14150.9708222811671133113140763479, 40763504, 40763512-40763542
206STRC150.9876126126126166532843896303-43896312, 43900150-43900156, 43907745-43907751, 43910440, 43910863-43910903
207STRC150.996410256410267195044007207-44007213
208SPG11150.9979541734860915733244859734-44859740, 44912444, 44914060-44914065, 44918637
209DUOX2150.9939746072735128464745403309, 45403328, 45403393-45403397, 45403582-45403597, 45403620-45403621, 45404061-45404063
210GATM150.99371069182398127245670612-45670619
211CLN6150.99358974358974693668500489-68500494
212HEXA150.9886792452830218159072668274-72668291
213HCN4150.82862679955703619361273614891-73614894, 73615107-73615114, 73615147-73615178, 73615247, 73615595-73615602, 73615741, 73615868, 73615871-73615875, 73615915, 73616144-73616156, 73616465, 73659842-73659863, 73659957-73659998, 73660005-73660016, 73660022-73660025, 73660028, 73660034-73660038, 73660064-73660075, 73660104-73660206, 73660235-73660278, 73660285-73660287, 73660291-73660296, 73660304-73660467, 73660473-73660537, 73660551-73660611
214MPI150.9905660377358512127275182891-75182902
215PSTPIP1150.0367705835331731205125177310489-77310589, 77310798-77310820, 77310831-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
216RPS17150.887254901960784640882821268, 82822746, 82823310, 82824389-82824394, 82824427, 82824442, 82824490-82824524
217RPS17150.843137254901966440883205611, 83207086-83207094, 83207653, 83208732-83208737, 83208770, 83208785, 83208823-83208867
218POLG150.998387096774196372089876828-89876833
219MESP2150.77051926298157274119490319589-90319624, 90319717, 90319791-90319798, 90319863-90319874, 90319908-90319941, 90319964-90319977, 90319986-90320031, 90320039-90320067, 90320108-90320176, 90320182-90320188, 90320353-90320370
220BLM150.96567936060179146425491326096, 91337397-91337420, 91337457-91337458, 91337461-91337476, 91337532-91337558, 91337573-91337587, 91346788-91346795, 91352410, 91354468, 91354476-91354478, 91354481-91354485, 91354498-91354500, 91354507, 91354513-91354516, 91354533, 91354540-91354543, 91354622, 91354631, 91358412-91358415, 91358441-91358454, 91358465-91358468, 91358504-91358509
221IGF1R150.999756335282651410499192900
222HBZ160.56177156177156188429202957, 202963, 202975-203003, 203935-203941, 203955-203993, 204004-204025, 204041-204082, 204271-204293, 204300-204304, 204366-204377, 204393-204399
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226IGFALS160.23033126293996148719321840601-1840618, 1840624-1840680, 1840724-1840768, 1840774-1840775, 1840789-1840894, 1840918-1841011, 1841021-1841201, 1841218-1841318, 1841322, 1841331-1841333, 1841344-1841351, 1841359, 1841378-1841394, 1841416-1841479, 1841494-1841599, 1841606-1841615, 1841621-1841672, 1841685-1841734, 1841750-1841796, 1841814-1841828, 1841878-1841880, 1841889-1842048, 1842054-1842066, 1842078-1842081, 1842087-1842112, 1842136-1842168, 1842190-1842223, 1842233-1842258, 1842266-1842324, 1842362, 1842368-1842472, 1842479-1842516, 1843647-1843653
227GFER160.302588996763754316182034220-2034477, 2034748-2034787, 2034818-2034830, 2034849-2034903, 2035867-2035868, 2035872-2035882, 2035885-2035893, 2035911-2035945, 2035985, 2035991-2035993, 2035997-2035999, 2036005
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229PKD1160.003794919454770712863129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143658, 2143679-2143739, 2143812-2143871, 2143884-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168736, 2168747-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185485, 2185493-2185690
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231MEFV160.99744245524297623463304654, 3306340-3306344
232SLX4160.997275204359671555053632594-3632608
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234GLIS2160.2368253968254120215754382292-4382312, 4382351-4382352, 4382358-4382362, 4382375-4382452, 4383348-4383373, 4383393-4383426, 4383472-4383489, 4383498-4383520, 4384802-4384811, 4384821-4384826, 4384834-4384838, 4384850-4384910, 4384934-4384978, 4385061-4385078, 4385099-4385130, 4385148-4385178, 4385194, 4385276-4385286, 4385289-4385307, 4385312-4385318, 4385341-4385394, 4386726-4386745, 4386779-4386839, 4386854-4386878, 4386886-4386890, 4386897-4387009, 4387041-4387274, 4387283-4387480, 4387487-4387525
235ALG1160.9218637992831510913955128834-5128871, 5130969-5131005, 5131019-5131052
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237OTOA160.9932748538011723342021768480-21768502
238OTOA160.9929718875502799622584620-22584626
239SCNN1B160.999479979199171192323364313
240COG7160.995676610462610231323403787, 23409374-23409376, 23409383, 23436161-23436165
241TUFM160.978070175438630136828857544-28857573
242ATP2A1160.9860279441117842300628890899-28890904, 28898791-28898796, 28898859, 28898862-28898866, 28900109, 28900119-28900133, 28900261-28900267, 28915502
243PHKG2160.9967239967244122130760152-30760155
244FUS160.9614168247944361158131193881-31193899, 31195277-31195279, 31195292-31195294, 31195308, 31195660, 31196408-31196411, 31196415-31196427, 31196430-31196444, 31196447, 31196450
245SLC5A2160.996532937097577201931500010-31500012, 31500016-31500019
246NOD2160.998078770413066312350745853-50745858
247SALL1160.998490566037746397551175656-51175661
248MMP2160.996974281391836198355513392-55513397
249SLC12A3160.969285483349595309356899203-56899222, 56904035-56904041, 56913092, 56913102, 56914154, 56921860-56921870, 56921876-56921888, 56921892-56921927, 56921937-56921941
250CETP160.995276653171397148257012150-57012156
251GPR56160.9515503875969100206457684211, 57687230-57687235, 57687955-57687963, 57689389-57689415, 57689883-57689884, 57690455-57690477, 57691336-57691338, 57691352, 57694728, 57694732, 57695609-57695620, 57695685-57695697, 57695742
252CNGB1160.999467518636852375657918203-57918204
253TK2160.933982683982686192466583864-66583868, 66583876-66583878, 66583901-66583902, 66583942, 66583946-66583948, 66583972-66584018
254HSD11B2160.82101806239737218121867465152-67465324, 67465373-67465416, 67470000
255LCAT160.32350718065004895132367973831-67973832, 67973845-67973923, 67973935-67973937, 67973942-67973944, 67973947-67973992, 67973999-67974007, 67974021, 67974029-67974038, 67974041-67974042, 67974061-67974072, 67974097-67974121, 67974124-67974128, 67974146-67974174, 67974182-67974242, 67974264-67974266, 67974280-67974282, 67974314-67974343, 67974358-67974381, 67976266-67976267, 67976320, 67976335, 67976346-67976347, 67976350, 67976359-67976421, 67976435-67976464, 67976470-67976490, 67976574-67976669, 67976764-67976830, 67976851-67976853, 67976864-67976879, 67976959-67977012, 67977020-67977115, 67977851-67977879, 67977900-67977914, 67977926, 67977930-67977942, 67977950-67977952, 67977963-67977983, 67977992-67978004
256CDH3160.9959839357429710249068679563, 68679567-68679571, 68679584, 68718598, 68721463, 68725713
257CDH1160.996602491506239264968771338-68771346
258CIRH1A160.9912663755458518206169167520, 69170695, 69187508, 69197063-69197077
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260AARS160.997248022015828290770298887, 70303521-70303527
261GCSH160.9904214559387552281129822, 81129871-81129874
262GAN160.9777034559643340179481348719-81348754, 81348859-81348861, 81348875
263MLYCD160.90688259109312138148283932855-83932887, 83932930-83932947, 83932980-83933010, 83933040-83933041, 83933048-83933052, 83933088-83933128, 83933163, 83933190-83933196
264LRRC50160.9660238751147874217884179086-84179093, 84205951-84205981, 84209657, 84209715, 84209851-84209883
265FOXF1160.9517543859649155114086544207-86544224, 86544226-86544238, 86544241-86544242, 86544301-86544317, 86544921, 86544972-86544975
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267JPH3160.58566978193146931224787636898, 87636901, 87636946-87636952, 87677902-87677905, 87677926-87677971, 87678011-87678017, 87678130-87678144, 87678148-87678149, 87678176, 87678179-87678202, 87678297-87678322, 87678351, 87678382-87678402, 87678412, 87678441-87678449, 87678565-87678567, 87678579-87678619, 87678628-87678630, 87717748-87717751, 87717804-87717857, 87717864, 87723252-87723255, 87723260, 87723267, 87723271, 87723276, 87723281-87723284, 87723290-87723464, 87723489-87723788, 87723799, 87723838-87723841, 87723853-87723861, 87723868, 87723872, 87723876, 87723903-87724034, 87724110-87724132
268CYBA160.2925170068027241658888709761-88709976, 88712524-88712565, 88712572-88712604, 88713163, 88713213-88713214, 88713217, 88713232, 88713235-88713246, 88713509-88713510, 88713527-88713567, 88713583, 88714454-88714458, 88714511, 88717364-88717421
269APRT160.0718232044198950454388876106-88876248, 88876478-88876556, 88876852-88876935, 88876937-88876946, 88876964, 88877958-88878064, 88878228-88878307
270GALNS160.54939451880178707156988880847-88880862, 88880867-88880869, 88880880-88880933, 88884415-88884532, 88888997-88889033, 88889052-88889118, 88891175-88891208, 88891229-88891277, 88893152-88893185, 88893203, 88893207, 88893242, 88898478, 88901637-88901638, 88901641, 88901657-88901658, 88901664-88901667, 88902609-88902610, 88902660-88902667, 88904040, 88904047, 88904054, 88904113, 88904138-88904172, 88907403-88907457, 88908351-88908379, 88909114-88909122, 88909135-88909150, 88909203, 88909206, 88909220, 88909237, 88923166-88923285
271SPG7160.9874371859296530238889574826-89574831, 89574837-89574845, 89574989, 89598366-89598371, 89598391, 89623484-89623490
272FANCA160.96978021978022132436889805028, 89805055-89805068, 89805080-89805084, 89806411-89806418, 89837011-89837026, 89837031, 89838108, 89842165-89842170, 89877355, 89882945-89883023
273TUBB3160.58906134515891556135389989810-89989866, 89998979-89998999, 89999060-89999072, 90001137-90001150, 90001245-90001282, 90001328-90001336, 90001372-90001390, 90001423-90001460, 90001568-90001608, 90001630-90001674, 90001685-90001686, 90001689-90001692, 90001695, 90001706, 90001732-90001765, 90001779-90001811, 90001837-90001838, 90001867-90001878, 90001883-90001926, 90001935-90001936, 90001939-90001941, 90001950-90001971, 90001983-90001984, 90001991-90002008, 90002031-90002073, 90002096, 90002176-90002212
274PRPF8170.997146118721462070081578446-1578460, 1587789-1587793
275CTNS170.8038237738985923612033552182-3552185, 3558537-3558584, 3559793-3559812, 3559836-3559842, 3559853-3559856, 3559880, 3559970-3559992, 3559995-3559996, 3560015-3560018, 3560053-3560077, 3561346, 3561431-3561449, 3563172-3563175, 3563181-3563182, 3563236-3563261, 3563590, 3563911-3563914, 3563943-3563958, 3563991-3564006, 3564020-3564028
276CHRNE170.8542510121457521614824802157, 4802166-4802186, 4802329, 4802494-4802516, 4802570-4802600, 4802625-4802663, 4802763-4802776, 4802821-4802852, 4804089-4804099, 4804125-4804127, 4804285-4804287, 4804290-4804293, 4804349-4804356, 4804360, 4804421-4804438, 4804468-4804472, 4805378
277PITPNM3170.9548717948717913229256358675-6358702, 6358726-6358745, 6358781-6358790, 6358824-6358845, 6373606-6373609, 6374482-6374489, 6374492, 6374649-6374654, 6376063-6376070, 6377814-6377815, 6381379, 6459705-6459726
278ACADVL170.991361788617891719687123304, 7123324, 7123467, 7123480-7123485, 7125271-7125277, 7128339
279CHRNB1170.991367861885791315067348447-7348448, 7348456-7348464, 7348489, 7348723
280GUCY2D170.980676328502426433127906382-7906399, 7906467-7906497, 7906665, 7907170-7907171, 7907196, 7907201-7907211
281ALOXE3170.99859550561798321368013251, 8013772-8013773
282HES7170.8952802359882716788024892-8024904, 8024991-8025022, 8025026, 8025042-8025060, 8025124, 8025144, 8025214-8025215, 8025220, 8025230
283MYH2170.9915894267078649582610424689, 10424693, 10428245-10428251, 10428345-10428351, 10429078-10429080, 10433028-10433034, 10446278-10446281, 10446415-10446433
284MYH3170.998797870513487582310554829-10554835
285ELAC2170.998790810157193248112906808-12906810
286TNFRSF13B170.97505668934242288216843779-16843799, 16852144
287FLCN170.9804597701149434174017127345, 17127433, 17131218-17131249
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361LDLR190.92140921409214203258311200273-11200278, 11215930-11215931, 11215964-11215965, 11216116, 11216185, 11216191-11216192, 11218185, 11221344, 11221351-11221352, 11221377, 11222213-11222215, 11222277-11222284, 11223969-11223982, 11224025-11224038, 11224046-11224052, 11224065-11224067, 11224226, 11224237-11224265, 11224270, 11224292, 11226847-11226857, 11231160-11231187, 11233984-11233985, 11238699, 11240203-11240228, 11240234-11240239, 11240318-11240346
362LDLR190.894736842105263028511240318-11240346, 11242057
363PRKCSH190.91115311909263141158711556237, 11557889-11557903, 11557970-11557975, 11558254, 11558270-11558271, 11558283-11558297, 11558323, 11558338-11558409, 11558508-11558518, 11558544-11558556, 11558575, 11558599, 11559088-11559089
364MAN2B1190.94795783926219158303612759097, 12766633-12766651, 12767765, 12767846-12767850, 12768270-12768305, 12768341-12768348, 12768360-12768369, 12768921-12768944, 12769156-12769158, 12769242, 12769262-12769285, 12769299-12769324
365GCDH190.9757023538344732131713002149-13002150, 13006869-13006894, 13007025-13007028
366CACNA1A190.92939768647786531752113318186, 13318197, 13318202-13318203, 13318212, 13318233-13318304, 13318319, 13318339-13318425, 13318433-13318435, 13318448-13318467, 13318477-13318480, 13318492-13318576, 13318579-13318617, 13318625-13318726, 13318742-13318803, 13318810-13318814, 13318850-13318855, 13319605-13319627, 13319634, 13319694-13319696, 13325052, 13325410-13325417, 13335481-13335482, 13335501, 13409521
367NOTCH3190.96425495262705249696615281322-15281324, 15281327-15281328, 15284981-15284987, 15285030-15285031, 15285052-15285054, 15285059-15285062, 15285096-15285098, 15285112, 15285203-15285205, 15288497, 15288621-15288623, 15290980-15290981, 15300210-15300211, 15302413-15302418, 15302423-15302424, 15302556-15302558, 15302670-15302678, 15302771-15302774, 15302809-15302830, 15302863-15302870, 15302873-15302888, 15302890-15302891, 15302944-15302948, 15302984-15302987, 15303046, 15303061-15303073, 15303188-15303208, 15311601-15311672, 15311678-15311702
368JAK3190.91644444444444282337517940917-17940918, 17940931, 17940951-17940998, 17941374-17941409, 17942051-17942060, 17946858, 17949085-17949090, 17950365-17950370, 17950373-17950376, 17951085-17951092, 17952480, 17952492-17952509, 17953133-17953137, 17953150, 17953185-17953220, 17953263, 17953305, 17953312-17953315, 17953320-17953322, 17953346-17953349, 17953351, 17953357-17953370, 17953839-17953841, 17953847, 17953908-17953912, 17954222-17954241, 17954284-17954287, 17954643-17954645, 17954677-17954693, 17955079, 17955097-17955099, 17955191-17955204
369SLC5A5190.9560041407867585193217983129-17983130, 17983285-17983293, 17983374-17983379, 17984947-17984968, 17984984-17985008, 17985303-17985314, 17986761-17986769
370IL12RB1190.93966817496229120198918180391-18180393, 18180426, 18180432, 18183020-18183025, 18183091, 18186592-18186608, 18186621-18186627, 18186632, 18188326, 18188460, 18191758-18191759, 18191777-18191779, 18191799-18191804, 18193062-18193065, 18193068, 18193071, 18197570-18197633
371COMP190.56420404573439991227418893729-18893756, 18893864-18893890, 18893896-18893900, 18893950-18893969, 18894000, 18894003, 18895001, 18895724, 18896343, 18896349-18896356, 18896504, 18896514-18896585, 18896659, 18896804-18896807, 18896841-18896889, 18896904, 18896923-18896925, 18896933-18896945, 18897084-18897093, 18897409, 18898311, 18898320, 18898352-18898374, 18898422-18898426, 18899024-18899119, 18899127-18899128, 18899233-18899260, 18899286-18899323, 18899401-18899421, 18899429-18899505, 18899522-18899528, 18899536-18899559, 18899662, 18899683-18899722, 18899969-18900106, 18900751-18900781, 18900788-18900795, 18900801-18900838, 18900861-18900879, 18900886-18900916, 18901371-18901372, 18901394, 18901402-18901403, 18901408-18901417, 18901663-18901744, 18902022-18902026, 18902067-18902078
372CEBPA190.47725162488394563107733792338-33792340, 33792384-33792397, 33792408, 33792489-33792526, 33792568-33792578, 33792591-33792593, 33792600-33792616, 33792668-33792695, 33792701-33792779, 33792785-33792805, 33792818-33792820, 33792848-33792914, 33792919-33792932, 33792941-33792946, 33792950, 33792956-33792959, 33792977-33792993, 33793004-33793036, 33793052-33793078, 33793091-33793106, 33793132-33793210, 33793220-33793263, 33793272, 33793285-33793320
373SCN1B190.950433705080554080735521725-35521764
374HAMP190.97254901960784725535773518-35773524
375MAG190.90483785220627179188135786312-35786318, 35786520-35786521, 35786546-35786548, 35790458-35790502, 35790541-35790566, 35790590-35790606, 35790646-35790652, 35790696-35790717, 35791068-35791095, 35791134, 35791245-35791253, 35791306-35791307, 35793524-35793531, 35793582-35793583
376TYROBP190.784660766961657333936398125, 36398348-36398370, 36398378-36398386, 36398434, 36398448, 36399071-36399108
377SDHAF1190.6522988505747112134836486177-36486202, 36486212-36486250, 36486273-36486279, 36486310-36486341, 36486403-36486417, 36486444-36486445
378WDR62190.9962817147856517457236595739-36595755
379RYR1190.947807104584247891511738931402-38931403, 38976651-38976676, 38980065-38980074, 38981308, 38986858-38986859, 38986878, 38987111-38987119, 38987500-38987517, 38987524-38987549, 38998421-38998428, 38998431, 39037117-39037126, 39037160-39037166, 39055599-39055651, 39055674-39055688, 39055715-39055769, 39055787-39055813, 39055821-39056108, 39056117-39056137, 39056150-39056186, 39056195, 39056198-39056199, 39056211-39056257, 39056273, 39056283-39056287, 39056308-39056336, 39056347-39056394, 39075703-39075730, 39076583, 39076591-39076599, 39076602
380ACTN4190.92726608187135199273639138417-39138431, 39138457, 39138462-39138489, 39138506-39138542, 39214964-39214965, 39215109-39215134, 39216364-39216375, 39219720-39219725, 39219929-39219956, 39219987-39219996, 39220034-39220067
381DLL3190.91168551427033164185739989621, 39989625, 39989869-39989871, 39989884-39989886, 39990030, 39993459-39993497, 39993588-39993629, 39993655-39993688, 39994793-39994803, 39994874-39994880, 39997789, 39997840-39997854, 39997897, 39998087-39998091
382PRX190.96215230278158166438640901300-40901302, 40901614, 40902390-40902393, 40902759, 40902776, 40903411-40903422, 40903468-40903471, 40903613, 40903675-40903677, 40909613-40909698, 40909712-40909714, 40909723-40909769
383TGFB1190.9658994032395640117341848094-41848101, 41854243-41854257, 41854318-41854319, 41858918-41858932
384RPS19190.98401826484018743842364858, 42364862, 42364870-42364872, 42364894-42364895
385ATP1A3190.86188145731376508367842470746-42470800, 42470809-42470817, 42470842-42470907, 42470914-42470956, 42470963, 42470967-42470978, 42471007-42471075, 42471087-42471088, 42471095-42471107, 42471131-42471172, 42471198-42471203, 42471273-42471280, 42471306-42471337, 42471344-42471383, 42471415-42471449, 42471877-42471886, 42474600-42474615, 42480568-42480584, 42480609-42480615, 42480692-42480716
386BCAM190.93746687864335118188745312382-45312392, 45312402-45312463, 45323977-45323988, 45324025-45324044, 45324063-45324075
387APOE190.99266247379455795445412207-45412213
388BLOC1S3190.912972085385885360945682846, 45682919-45682923, 45682988-45683024, 45683066-45683068, 45683103-45683107, 45683110-45683111
389ERCC2190.91371003066141197228345867001-45867004, 45867075-45867097, 45867117-45867121, 45867133-45867137, 45867151-45867169, 45867244-45867265, 45867278-45867279, 45867324-45867341, 45867352, 45867493-45867526, 45867682-45867698, 45868166, 45873445-45873490
390SIX5190.75495495495496544222046268765, 46268768-46268780, 46268863-46268875, 46268889-46268895, 46268902, 46268905, 46268950-46268984, 46269100, 46269107, 46269112-46269123, 46269179-46269226, 46269244, 46269708, 46269717-46269722, 46269749, 46269758, 46269763, 46270065-46270083, 46270110-46270111, 46270114, 46270131-46270138, 46270141, 46270145-46270203, 46270246-46270250, 46270334-46270336, 46270368, 46270371-46270388, 46271308-46271312, 46271315-46271317, 46271326, 46271340, 46271381-46271383, 46271440, 46271453-46271454, 46271465-46271467, 46271564-46271603, 46271636, 46271644, 46271681-46271727, 46271733-46271762, 46271786-46271801, 46271804, 46271831-46271839, 46271842, 46271870, 46271875-46271876, 46271881-46271957, 46271979-46271983, 46272031-46272052, 46272065-46272071, 46272097, 46272100-46272102
391DMPK190.87248677248677241189046273749-46273755, 46273826-46273852, 46274268, 46274270-46274288, 46274297-46274318, 46280652, 46280800, 46280835-46280848, 46281432-46281450, 46281849-46281863, 46282533-46282543, 46282751-46282759, 46283054-46283060, 46285523-46285610
392FKRP190.37096774193548936148847258708-47258720, 47258725-47258726, 47258730, 47258747-47258757, 47258770-47258786, 47258804-47258810, 47258817, 47258819-47258829, 47258838-47258839, 47258842-47258844, 47258854-47258870, 47258913-47258955, 47258994, 47259005-47259022, 47259027-47259104, 47259128-47259196, 47259208-47259262, 47259265-47259266, 47259283-47259294, 47259322-47259471, 47259480-47259560, 47259576-47259597, 47259604-47259748, 47259757-47259763, 47259792-47259809, 47259837-47259858, 47259867-47259887, 47259927-47259930, 47259940-47259943, 47260031-47260033, 47260036-47260040, 47260043, 47260046, 47260050, 47260087-47260104, 47260112-47260181
393DBP190.4826175869120750697849134097, 49134159-49134206, 49134248-49134249, 49136805-49136833, 49138837-49139054, 49139064-49139079, 49139094-49139243, 49140149, 49140154-49140155, 49140192-49140230
394BCAT2190.9652247667514841117949303039, 49303062-49303095, 49303248, 49303333-49303336, 49303457
395FTL190.99810606060606152849469573
396GYS1190.94399277326107124221449494570, 49494573-49494581, 49494594-49494596, 49494616-49494638, 49494698, 49494717, 49494726-49494740, 49496256-49496259, 49496280-49496335, 49496359-49496369
397MED25190.89661319073084232224450321632, 50321635, 50321638-50321642, 50321647, 50321692-50321719, 50321849-50321852, 50332293-50332298, 50333055, 50333768-50333792, 50334047-50334051, 50334085, 50334115-50334134, 50335389-50335414, 50338418-50338421, 50338424, 50338791-50338798, 50338829-50338862, 50339026-50339027, 50339110-50339118, 50339194-50339202, 50339483-50339499, 50339524-50339535, 50339546, 50339588-50339594, 50340190, 50340197-50340199
398MYH14190.9774177712322138611150752998-50752999, 50760682-50760687, 50762411, 50764801-50764852, 50764859-50764892, 50770185-50770227
399KCNC3190.85224274406332336227450823520-50823521, 50823525, 50823531-50823546, 50823573-50823582, 50826427-50826432, 50826465-50826473, 50826477-50826479, 50831723-50831732, 50831739-50831752, 50831763-50831764, 50831882, 50831926-50831965, 50831977-50832026, 50832130-50832135, 50832148-50832149, 50832152, 50832169, 50832178-50832339
400NLRP12190.95731324544884136318654297303-54297339, 54299242-54299247, 54301614, 54304512-54304530, 54304550-54304555, 54304597-54304600, 54307355-54307376, 54312850-54312851, 54312861-54312872, 54312964, 54313587-54313588, 54313638-54313641, 54313661-54313667, 54314098, 54314419-54314430
401PRKCG190.9875835721107926209454392988, 54392992, 54401764, 54401845, 54403989, 54409614, 54409963, 54409974, 54409979-54409980, 54410088-54410103
402PRPF31190.46810150054621659-54621680, 54621694-54621701, 54621735-54621739, 54621784-54621792, 54621828-54621829, 54625251-54625255, 54625318-54625322, 54625908, 54625922-54625938, 54626849-54626852, 54626879-54626889, 54626915-54626918, 54627128-54627175, 54627201-54627205, 54627901-54627949, 54627990-54627996, 54628021-54628034, 54629936-54629992, 54631448-54631528, 54631538-54631575, 54631680-54631752, 54632432-54632511, 54632518-54632560, 54632647-54632742, 54634738-54634863
403TSEN34190.957127545551984093354695296-54695306, 54695362-54695368, 54695399-54695418, 54695434, 54695437
404NLRP7190.999678869621071311455451050
405TNNT1190.8086185044359915178955644310-55644328, 55645255-55645256, 55645264-55645267, 55645270-55645295, 55645477-55645479, 55645507, 55645511-55645513, 55648472-55648483, 55649329-55649358, 55649421-55649438, 55652298-55652321, 55652599-55652601, 55652666-55652670, 55658072
406TNNI3190.883415435139577160955665489-55665504, 55666143-55666174, 55667673-55667695
407TPO20.9279086366880820228021481089-1481097, 1481218-1481220, 1497574, 1520655-1520721, 1520734-1520735, 1520747-1520754, 1544366-1544371, 1544393-1544412, 1544425-1544495, 1546193-1546206, 1546239
408RPS720.97264957264957165853623200-3623203, 3623240-3623251
409KLF1120.9746588693957139153910183847-10183885
410LPIN120.998877665544333267311911777-11911778, 11911793
411MYCN20.9856630824372820139516082307-16082313, 16082397-16082400, 16082542-16082550
412APOB20.99802804557406271369221224800-21224803, 21266748-21266768, 21266794-21266795
413HADHB20.9908771929824613142526502875, 26502885-26502889, 26508379-26508385
414OTOF20.795462128795461226599426684785-26684789, 26687884-26687890, 26688693, 26690048, 26690255-26690257, 26690261, 26690304-26690308, 26693461-26693496, 26693554-26693556, 26695410-26695452, 26696026-26696048, 26696156-26696162, 26696274-26696279, 26696320-26696340, 26696368-26696383, 26696871-26696915, 26696926-26696933, 26696967, 26696978, 26697381-26697455, 26697461-26697490, 26697522-26697539, 26698230-26698232, 26698332-26698352, 26698782-26698787, 26698794-26698824, 26698843-26698850, 26698861-26698906, 26698996-26699085, 26699101-26699146, 26699156-26699185, 26699759-26699911, 26700053-26700078, 26700110-26700117, 26700129-26700156, 26700311-26700348, 26700517-26700562, 26700596-26700603, 26702187-26702190, 26702224-26702229, 26702341-26702381, 26702421-26702461, 26702511-26702520, 26703071-26703075, 26703107-26703136, 26703173-26703179, 26703654-26703659, 26703684-26703716, 26703740-26703764, 26703792-26703834, 26703863-26703877, 26705338-26705344, 26705357-26705359, 26705444-26705446, 26706397, 26706485, 26712129
415EIF2B420.996323529411766163227592343, 27592857-27592861
416ALK20.9977380217972411486329443623-29443630, 29451772, 30143499-30143500
417SPAST20.93084819016748128185132288989-32289006, 32289012, 32289016-32289020, 32289031-32289037, 32289077-32289079, 32289123-32289139, 32289184-32289246, 32289292, 32289301-32289309, 32289312-32289315
418CYP1B120.9417892156862795163238301971, 38301988-38301993, 38302005-38302022, 38302042-38302047, 38302190-38302193, 38302203-38302228, 38302263-38302266, 38302302-38302316, 38302410-38302416, 38302422-38302429
419SOS120.999000499750124400239224399, 39281926, 39285829-39285830
420ABCG820.9777448071216645202244099225-44099231, 44099395, 44102326-44102349, 44102359-44102371
421LRPPRC20.9839904420549667418544222948-44222960, 44222968-44222998, 44223064-44223086
422SIX320.99399399399399699945169430-45169432, 45169557-45169559
423EPCAM20.968253968253973094547596645, 47596662-47596690
424MSH220.9960784313725511280547630456-47630465, 47630535
425MSH620.97281410727406111408348010373-48010379, 48010443, 48010455-48010467, 48010473-48010481, 48010487-48010546, 48010564-48010572, 48010579-48010590
426LHCGR20.999047619047622210048982764, 48982767
427EFEMP120.999325236167341148256144945
428ATP6V1B120.999351491569391154271191617
429DYSF20.987264150943481636071801339-71801341, 71801345-71801348, 71801354-71801360, 71801450-71801453, 71825783-71825784, 71825825, 71825829, 71825843-71825847, 71829909-71829920, 71838597, 71847677-71847697, 71847720-71847739
430SPR20.984732824427481278673114608, 73114615-73114616, 73114715-73114716, 73114757-73114763
431ALMS120.99840051183621201250473613032-73613037, 73827996-73828002, 73828339-73828345
432MOGS20.91129673826571223251474688500-74688502, 74688520, 74688675-74688681, 74688857-74688863, 74688912-74688917, 74689002-74689049, 74689066-74689094, 74689262-74689277, 74689361-74689366, 74689590, 74689907-74689912, 74691638-74691681, 74692257-74692262, 74692267-74692287, 74692320-74692324, 74692352-74692368
433HTRA220.993464052287589137774757246-74757254
434REEP120.9983498349835160686564622
435EIF2AK320.9829901521933857335188926558, 88926561, 88926624, 88926630, 88926675, 88926723-88926739, 88926746-88926753, 88926765-88926791
436TMEM12720.926080892608095371796930878-96930887, 96930958-96930961, 96931050-96931058, 96931087-96931116
437ZAP7020.90806451612903171186098340593-98340625, 98340719-98340767, 98340778, 98340790-98340800, 98340822-98340825, 98340831-98340833, 98340840-98340847, 98340857-98340869, 98349359, 98349408, 98349760-98349779, 98350012, 98350043, 98351001, 98351145-98351146, 98351156-98351175, 98351796, 98354556
438RANBP220.945943152454785239675109345588-109345589, 109352142, 109352185-109352200, 109352560-109352569, 109357110-109357130, 109363251-109363254, 109365376, 109365536, 109367831-109367879, 109367984-109367990, 109368074-109368111, 109368406-109368450, 109369546-109369548, 109369896-109369902, 109371656-109371662, 109374947-109374971, 109378557-109378564, 109378651, 109382635-109382677, 109382787-109382793, 109382916-109382946, 109383050-109383059, 109383084-109383113, 109383142-109383148, 109383268-109383314, 109383334-109383360, 109383672-109383678, 109383825, 109383872-109383916, 109384167, 109384202, 109384454-109384472, 109384664
439MERTK20.99633333333333113000112656315-112656325
440GLI220.950850661625712344761121555017-121555021, 121708956-121708960, 121709008-121709021, 121712943-121712966, 121727992-121727995, 121728146-121728151, 121728154, 121729542, 121729605-121729611, 121745829-121745835, 121746143-121746179, 121746205-121746249, 121746303-121746318, 121746341-121746342, 121746372-121746373, 121746385-121746388, 121746506-121746533, 121746589-121746592, 121746646, 121746686-121746698, 121746701, 121747020-121747023, 121747118, 121747489, 121747697
441BIN120.893378226711561901782127806124-127806130, 127808042-127808059, 127808459-127808487, 127808774-127808796, 127811481-127811511, 127811519, 127811574, 127815049-127815123, 127834266, 127834269-127834272
442PROC20.95743145743146591386128180493-128180496, 128180634-128180636, 128180647-128180650, 128180663-128180689, 128180699-128180717, 128180747, 128180872
443CFC120.8705357142857187672131279407-131279413, 131279621-131279627, 131280364-131280389, 131280789-131280834, 131285322
444NEB20.999449284069291119974152432756, 152432763-152432765, 152432791-152432797
445SCN1A20.99783224945806135997166929933-166929945
446ABCB1120.9992435703479633966169781202-169781204
447ITGA620.9972527472527593276173292517-173292525
448HOXD1320.99031007751938101032176957670-176957679
449PRKRA20.9766454352441622942179301037, 179308031-179308038, 179312298-179312307, 179314974, 179314977, 179315745
450DFNB5920.97261567516525291059179318305-179318333
451CERKL20.9943714821763691599182468649-182468657
452NDUFS120.9990842490842522184207017190, 207017195
453WNT10A20.9944178628389271254219745753-219745754, 219757869-219757873
454DES20.98513800424628211413220283274-220283282, 220283592-220283595, 220283704-220283710, 220283714
455OBSL120.950096643823582845691220416292, 220416381-220416384, 220416840-220416841, 220416894, 220416901, 220417370, 220417590-220417622, 220417699-220417711, 220435313-220435318, 220435391-220435398, 220435416, 220435578-220435614, 220435635-220435643, 220435652-220435691, 220435693, 220435699-220435783, 220435896-220435903, 220435922-220435954
456CHRND20.98970398970399161554233390934-233390948, 233390955
457AGXT20.732824427480923151179241808283-241808319, 241808332-241808380, 241808403-241808419, 241808587-241808590, 241808595, 241808614-241808644, 241808651-241808680, 241808734-241808735, 241808761-241808779, 241810061-241810068, 241810078-241810079, 241810084-241810086, 241810115-241810119, 241810784-241810821, 241810830-241810866, 241813410-241813412, 241813459-241813460, 241816992-241817003, 241817501-241817508, 241818147-241818153
458D2HGDH20.846104725415072411566242689608-242689626, 242689693, 242695409-242695429, 242707125-242707131, 242707150-242707277, 242707299-242707362, 242707382
459C20orf54200.9985815602836921410746355, 746358
460AVP200.670707070707071634953063288-3063291, 3063305, 3063337-3063340, 3063344-3063373, 3063389-3063442, 3063623-3063665, 3063676, 3063679, 3063689-3063694, 3063720-3063732, 3063770-3063775
461PANK2200.950963222416818417133869787, 3869799, 3869866-3869868, 3870009-3870030, 3870100, 3870146-3870159, 3870186-3870190, 3870226-3870229, 3870268-3870300
462JAG1200.9759365600218888365710620147-10620151, 10621460, 10621577-10621581, 10653351, 10653387-10653388, 10653397, 10653497-10653517, 10653560-10653577, 10653611-10653617, 10653625-10653628, 10654137-10654138, 10654158-10654178
463C20orf7200.99903660886321103813782132
464SNTA1200.86166007905138210151832000209-32000232, 32000424-32000427, 32000571-32000583, 32031154-32031162, 32031167-32031193, 32031204-32031238, 32031240, 32031251, 32031260-32031270, 32031305, 32031309, 32031316-32031321, 32031324-32031328, 32031342-32031343, 32031346-32031405, 32031409-32031410, 32031413-32031417, 32031424-32031426
465GSS200.993684210526329142533523395-33523403
466GDF5200.9833997343957525150634021780-34021784, 34022290, 34025102-34025106, 34025112, 34025153, 34025156, 34025159-34025160, 34025188-34025189, 34025195-34025197, 34025275-34025278
467HNF4A200.9915789473684212142543052773-43052775, 43052786, 43052822-43052828, 43052894
468ADA200.9679487179487235109243252853, 43252856-43252857, 43255200-43255209, 43257756-43257771, 43280216-43280217, 43280226-43280229
469CTSA200.9632598530394155149744520003-44520017, 44520234-44520267, 44520334, 44523770-44523772, 44526375, 44526738
470VAPB200.978142076502731673257014066-57014081
471GNAS200.983739837398371273857415194-57415205
472GNAS200.96403339755941112311457428720, 57429101, 57429435-57429446, 57429479-57429482, 57429491-57429503, 57429641-57429651, 57429675-57429702, 57429716-57429734, 57429851-57429861, 57430083-57430094
473COL9A3200.457420924574211115205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450574-61450604, 61450614, 61450625-61450645, 61451281-61451334, 61452533-61452568, 61452860-61452863, 61453109-61453140, 61453148-61453162, 61453463-61453516, 61453943-61453947, 61453962-61453984, 61455797-61455853, 61456320-61456373, 61457169-61457209, 61457556-61457573, 61457602-61457609, 61458119-61458120, 61458131-61458172, 61458593-61458638, 61459275-61459328, 61460131-61460163, 61460275-61460298, 61460315-61460317, 61460980-61461005, 61461118-61461121, 61461127-61461161, 61461712-61461736, 61461755-61461765, 61461869-61461940, 61463519-61463541, 61464409-61464416, 61467273-61467305, 61467539, 61467572-61467584, 61467637-61467652, 61467673, 61468505-61468506, 61468511, 61468516, 61468537, 61468549
474CHRNA4200.174097664543521556188461978090-61978163, 61978193-61978215, 61981005-61981057, 61981067-61981310, 61981322-61981558, 61981567-61981809, 61981848-61981868, 61981874-61981894, 61981917-61982001, 61982031-61982033, 61982037, 61982040, 61982047-61982051, 61982067-61982085, 61982095, 61982098, 61982124, 61982151-61982195, 61982238-61982263, 61982279-61982318, 61982340-61982351, 61982363-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
475KCNQ2200.147002672775872234261962037997-62038168, 62038189-62038280, 62038301-62038381, 62038390-62038456, 62038462-62038728, 62039766-62039889, 62044803-62044934, 62045441-62045453, 62045456-62045459, 62045511-62045546, 62046263-62046307, 62046316-62046348, 62046353-62046354, 62046367, 62046394-62046400, 62046435-62046464, 62050978, 62050987, 62051007, 62055535-62055536, 62055542-62055559, 62059735-62059788, 62062693-62062697, 62065162-62065226, 62065232-62065256, 62069978-62069993, 62070010, 62070025-62070054, 62070064-62070073, 62070951-62071042, 62071054-62071061, 62073759-62073884, 62076012-62076187, 62076591, 62076609-62076717, 62078100-62078190, 62103521-62103816
476SOX18200.20952380952381913115562679519-62679521, 62679526-62679588, 62679619-62679626, 62679666-62679669, 62679730-62679754, 62679821-62679828, 62679833-62679834, 62679838-62679889, 62679903-62680003, 62680010-62680119, 62680129-62680147, 62680156-62680315, 62680512-62680869
477APP210.997405966277566231327542882-27542887
478IFNGR2210.9280078895463573101434775850-34775922
479RCAN1210.916996047430836375935987186-35987219, 35987225-35987242, 35987256-35987258, 35987267, 35987283-35987286, 35987308-35987310
480CLDN14210.8361111111111111872037833292-37833358, 37833533-37833554, 37833566-37833588, 37833895, 37833969, 37833981-37833982, 37833992-37833993
481HLCS210.996790463090337218138309234-38309240
482TMPRSS3210.9897435897435914136543805525-43805538
483CSTB210.99326599326599229745196123-45196124
484AIRE210.207570207570211298163845705890-45706006, 45706440-45706540, 45706551, 45706579-45706614, 45706861-45706900, 45706904-45706913, 45706951-45707016, 45707401-45707428, 45707449-45707474, 45708244-45708260, 45708264-45708281, 45708303, 45708310, 45708315-45708317, 45708325, 45709540-45709542, 45709568, 45709576-45709599, 45709625-45709680, 45709871, 45709881-45709951, 45710998-45711085, 45712191-45712244, 45712255-45712284, 45712876-45713058, 45713672-45713720, 45713732-45713736, 45713746-45713765, 45713772-45713774, 45713778-45713780, 45713786-45713788, 45714284-45714386, 45716266-45716328, 45717539-45717610
485ITGB2210.62251082251082872231046306697, 46306703, 46306729-46306817, 46308620-46308810, 46309191-46309313, 46309324-46309390, 46309401, 46309893-46309927, 46309947-46309982, 46309994-46310039, 46310052-46310066, 46310097-46310135, 46311738-46311833, 46311898-46311911, 46313319-46313336, 46313356-46313368, 46313388-46313403, 46313409, 46313428-46313459, 46320246-46320270, 46320334, 46320379-46320380, 46320383-46320388, 46326930-46326933
486COL18A1210.510351377018042578526546875475-46875478, 46875734-46875740, 46875906-46875940, 46876195-46876201, 46876215-46876220, 46876224-46876244, 46876328-46876333, 46876389, 46876414-46876423, 46876464-46876486, 46876497-46876533, 46876555-46876587, 46876615-46876621, 46876632-46876667, 46876685-46876689, 46876778-46876795, 46888156-46888157, 46888161-46888162, 46888171-46888172, 46888175, 46888183, 46888212, 46888237-46888240, 46888326-46888350, 46888467-46888478, 46888520-46888568, 46888628-46888660, 46895397-46895400, 46896284-46896313, 46896334, 46896363-46896365, 46896368-46896382, 46896389-46896391, 46897347-46897360, 46897721-46897728, 46897878, 46899819-46899866, 46899984-46899990, 46899999-46900002, 46900008, 46900032-46900042, 46900407-46900423, 46900669-46900699, 46900726, 46900732, 46900768-46900772, 46906775-46906777, 46906798-46906878, 46906888, 46906898, 46907366-46907373, 46907403-46907414, 46908342-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912616, 46912625-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915315, 46915334-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925281-46925345, 46925752-46925847, 46925854-46925880, 46927475-46927507, 46929274-46929314, 46929340-46929350, 46929353-46929363, 46929373-46929411, 46929419-46929439, 46929452-46929454, 46929466-46929511, 46929983-46930064, 46930070-46930170, 46931025-46931092, 46931109-46931113, 46931122-46931123, 46932102-46932105, 46932117-46932120, 46932130, 46932145-46932170, 46932173-46932184, 46932193, 46932201, 46932206, 46932216-46932312
487COL6A1210.411726595400061816308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409037, 47409044-47409051, 47409522-47409545, 47409555-47409565, 47409666-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410704, 47410713-47410740, 47410893-47410919, 47410931, 47410933-47410934, 47410944-47410955, 47411924-47411948, 47411974-47411986, 47412078-47412079, 47412087-47412116, 47412277-47412283, 47412672-47412675, 47412685-47412689, 47412723-47412724, 47414081-47414088, 47414092-47414116, 47414122-47414143, 47417335-47417397, 47417614-47417663, 47418035-47418085, 47418312-47418347, 47418811-47418870, 47419077-47419099, 47419115-47419117, 47419121-47419132, 47419571-47419606, 47420245-47420256, 47420279-47420281, 47420677-47420681, 47421199-47421210, 47421217, 47421275-47421281, 47421875, 47422303-47422315, 47422574-47422613, 47423321-47423324, 47423389, 47423446-47423467, 47423479-47423507, 47423514-47423518, 47423557-47423575, 47423616-47423624, 47423649-47423662, 47423696-47423722, 47423725-47423727, 47423821, 47423825, 47423892-47423927
488COL6A2210.233333333333332346306047531391-47531416, 47531431-47531475, 47531481-47531505, 47531893-47531923, 47531931-47531948, 47531958, 47531965, 47531971-47532020, 47532030-47532036, 47532065-47532082, 47532094-47532131, 47532174-47532202, 47532249-47532250, 47532268, 47532271, 47532276-47532312, 47532315-47532317, 47532322-47532324, 47532342-47532359, 47532379-47532401, 47532414-47532442, 47532461, 47532468, 47532476-47532477, 47532487-47532491, 47533922-47533976, 47535807-47535814, 47535839, 47535923-47535967, 47536291-47536292, 47536298-47536304, 47536313-47536317, 47536565-47536591, 47536684-47536728, 47537314-47537367, 47537788-47537850, 47538528-47538542, 47538562-47538590, 47538944-47538945, 47538954-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542426, 47542437-47542445, 47542789-47542795, 47542826-47542851, 47544576-47544612, 47544626-47544627, 47544799-47544834, 47545180-47545213, 47545224-47545225, 47545386-47545392, 47545406-47545409, 47545418, 47545422, 47545428-47545429, 47545444, 47545454, 47545510-47545531, 47545699-47545738, 47545754-47545865, 47545873, 47545877-47545878, 47545884, 47545895-47545896, 47545909-47546014, 47546022-47546028, 47546036-47546076, 47546083-47546090, 47546097-47546142, 47546417-47546433, 47546443-47546448, 47551868-47552401, 47552409-47552466
489COL6A2210.0204678362573133534247552183-47552401, 47552409-47552524
490FTCD2101626162647556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
491PCNT210.94785735690745221001147744143-47744178, 47766115-47766122, 47766854-47766862, 47766883-47766891, 47769041-47769043, 47769070-47769075, 47769607-47769608, 47771345-47771354, 47771401-47771433, 47773982, 47775431-47775441, 47775511, 47783473-47783477, 47783552, 47783615-47783619, 47783685-47783689, 47783692, 47783738-47783779, 47786586-47786634, 47786653-47786747, 47786762-47786768, 47786817, 47786938-47786940, 47786947-47786948, 47786977-47787035, 47787042-47787054, 47801695-47801696, 47801742-47801752, 47808770, 47817372-47817375, 47818164-47818169, 47822356-47822364, 47831449-47831461, 47836429-47836432, 47836712-47836724, 47848348-47848355, 47848358-47848361, 47848444-47848448, 47848475-47848499
492PEX26220.99564270152505491818561219-18561222
493PRODH220.69994453688297541180318901004, 18901007-18901018, 18904409-18904436, 18905859, 18905888, 18905931-18905975, 18908898-18908936, 18909867-18909871, 18910339-18910387, 18910401-18910422, 18910636-18910673, 18918550-18918573, 18918688, 18918700-18918701, 18923528-18923800
494GP1BB220.03703703703703759862119711093-19711102, 19711377-19711521, 19711536-19711940, 19711950-19711987
495TBX1220.46975806451613789148819747169-19747200, 19748428-19748712, 19750845-19750850, 19751701-19751720, 19753294-19753316, 19753330, 19753427, 19753430-19753470, 19753491-19753525, 19753912-19754002, 19754010-19754018, 19754022-19754075, 19754089-19754124, 19754152-19754207, 19754216-19754239, 19754263-19754264, 19754280, 19754298-19754354, 19754370, 19754377-19754390
496SMARCB1220.9861830742659816115824175826-24175841
497HPS4220.998579545454553211226859940-26859942
498CHEK2220.9500283929585588176129083889-29083917, 29083941-29083965, 29085163-29085171, 29090020-29090024, 29091840-29091841, 29126408-29126409, 29126459-29126474
499NF2220.9938478747203611178830000066-30000076
500TCN2220.9867601246105917128431006860, 31010369-31010370, 31022451-31022457, 31022483-31022489
501DRG1220.993659420289867110431796677, 31796680-31796685
502MYH9220.9894611592724862588336685270, 36688082-36688102, 36689518-36689520, 36689523, 36690211-36690212, 36690989, 36691551-36691556, 36697082, 36697622-36697623, 36698653-36698663, 36700123-36700126, 36712688-36712692, 36718559-36718562
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736ARXX0.88040260509177202168925031163-25031169, 25031419-25031447, 25031482-25031515, 25031533-25031577, 25031653, 25031655, 25031657-25031689, 25031698, 25031717-25031729, 25031768-25031773, 25031776-25031779, 25031803, 25031889-25031915
737DMDX0.9996382709350741105832398717, 32490303, 32509402, 32509405
738RPGRX0.79387106100029713345938144805-38144816, 38144878, 38144955-38144970, 38145051, 38145054-38145056, 38145155, 38145178-38145251, 38145267-38145781, 38145826-38145867, 38145914, 38145943-38145962, 38146010-38146017, 38146148-38146150, 38147222-38147226, 38150212-38150221, 38150229
739ATP6AP2X0.998100664767332105340440353-40440354
740NYXX0.75103734439834360144641332744-41332753, 41332764-41332766, 41332806-41332808, 41332856-41332859, 41332875-41332885, 41332947-41332968, 41332978-41332983, 41333016-41333025, 41333048, 41333097-41333121, 41333154-41333169, 41333175-41333253, 41333274-41333315, 41333344-41333377, 41333439-41333467, 41333477-41333478, 41333509-41333517, 41333546-41333556, 41333724-41333727, 41333761, 41333951-41333981, 41334059-41334065
741RP2X0.999050332383671105346739129
742SYN1X0.999527856468371211847433751
743SYPX0.99469214437367594249048216-49048220
744CACNA1FX0.9890461745871365593449061640-49061642, 49061646-49061647, 49061653-49061664, 49061700-49061701, 49062994-49062995, 49063058-49063071, 49065040, 49065737-49065740, 49065769, 49065774-49065782, 49066090, 49066103, 49066203-49066213, 49067451-49067452
745FOXP3X0.997685185185193129649114784-49114786
746SMC1AX0.997568881685589370253410106-53410114
747FGD1X0.9993069993072288654494253-54494254
748ARX0.9746652189648970276366765159-66765168, 66766353-66766412
749DLG3X0.996332518337419245469665400-69665408
750MED12X0.999846954392411653470361112
751TAF1X0.97993664202746114568270586165-70586228, 70586265-70586314
752PHKA1X0.999455337690632367271915571, 71915632
753SLC16A2X0.9929424538545113184273641396-73641398, 73641402-73641407, 73641411-73641414
754BRWD3X0.9963024588648520540980064940-80064951, 80064963-80064970
755CHMX0.996941896024466196285212882-85212887
756PCDH19X0.9969751966122210330699663353, 99663571-99663576, 99663580-99663582
757NDUFA1X0.9061032863849820213119005945, 119007268-119007276, 119007302-119007310, 119010478
758CUL4BX0.98103574033552522742119691811-119691816, 119694061-119694084, 119694104, 119694114-119694116, 119694358, 119694368-119694378, 119694457-119694461, 119694466
759XIAPX0.98862115127175171494123020086, 123025123-123025131, 123040945-123040951
760OCRLX0.99630450849963102706128674422-128674425, 128674428-128674433
761ZIC3X0.99715099715141404136651115-136651118
762SOX3X0.739000745712163501341139585917, 139585920, 139585945-139585983, 139585996-139586000, 139586031-139586036, 139586043-139586073, 139586140-139586199, 139586303-139586326, 139586338-139586362, 139586436-139586447, 139586461-139586520, 139586523-139586524, 139586527-139586529, 139586560-139586575, 139586670-139586696, 139586796-139586821, 139586859-139586864, 139586975-139586976, 139587222-139587225
763FAM58AX0.8979591836734775735152858095-152858099, 152858103, 152860025, 152864420, 152864443-152864451, 152864462-152864480, 152864483-152864521
764SLC6A8X0.541404612159338751908152954030-152954291, 152955830-152955850, 152955891-152955893, 152956765-152956808, 152956879-152956880, 152956936-152956965, 152957497-152957525, 152957535-152957558, 152958508-152958509, 152958520, 152958546, 152958551, 152958629-152958630, 152958728-152958759, 152958797-152958821, 152958917-152958939, 152958945-152958971, 152959014, 152959385-152959403, 152959461-152959472, 152959616, 152959619-152959621, 152959632-152959655, 152959690-152959692, 152959701, 152959708-152959710, 152959799-152959813, 152959821-152959868, 152959896, 152959900-152959901, 152960000-152960020, 152960079-152960088, 152960174-152960182, 152960201-152960313, 152960337, 152960529-152960553, 152960587-152960599, 152960649-152960669
765ABCD1X0.599195710455768972238152990722-152990811, 152990828, 152990837-152990915, 152990922-152991060, 152991080, 152991084-152991085, 152991103-152991108, 152991115-152991167, 152991188-152991192, 152991201-152991218, 152991243-152991262, 152991275, 152991278-152991282, 152991294, 152991301, 152991333, 152991336-152991338, 152991341-152991343, 152991413-152991422, 152991429, 152991435, 152991445-152991491, 152991504-152991518, 152991527-152991559, 152991562, 152991617-152991621, 153001566-153001567, 153001577, 153001656-153001659, 153001681-153001683, 153001806, 153001817-153001842, 153001888-153001896, 153001938-153001962, 153002611-153002636, 153002662, 153002667, 153002672, 153005689, 153006073-153006085, 153006141, 153008473-153008497, 153008675-153008688, 153008705-153008734, 153008756-153008791, 153008943-153008949, 153008981-153008987, 153009006-153009047, 153009082-153009159, 153009181
766L1CAMX0.941971383147852193774153128310-153128316, 153129003-153129004, 153129367, 153129440, 153129879-153129885, 153130103-153130105, 153130307-153130347, 153130603, 153130754-153130776, 153130790, 153130809-153130811, 153131183, 153131187, 153131195, 153131211, 153132851, 153133330, 153133806-153133808, 153134389-153134390, 153135012-153135013, 153135063-153135079, 153135114-153135118, 153135260, 153135271-153135275, 153135346, 153135511-153135533, 153135589-153135604, 153135641, 153135674, 153135845-153135847, 153135865-153135881, 153136406, 153136512-153136533, 153136608-153136609, 153137625
767MECP2X0.97394789579158391497153297866, 153363078-153363081, 153363089-153363122
768OPN1LWX0.98264840182648191095153418453-153418471
769OPN1MWX0.94885844748858561095153458979-153458989, 153459039-153459083
770OPN1MWX0.95799086757991461095153496125, 153496157-153496201
771FLNAX0.5133434038267938667944153577217-153577232, 153577289-153577334, 153577377-153577404, 153577730-153577749, 153577753, 153577775-153577783, 153577796-153577836, 153577876-153577884, 153577888, 153577923-153577928, 153578024-153578025, 153578029, 153578034-153578066, 153578200-153578234, 153578401-153578407, 153578410-153578425, 153578467, 153578557, 153579282, 153579293, 153579347-153579362, 153579973, 153579979, 153579990, 153579993-153579994, 153580034-153580041, 153580269-153580326, 153580336-153580381, 153580549-153580565, 153580587-153580618, 153580627-153580673, 153580699, 153580706-153580719, 153580722, 153580729, 153580761-153580786, 153580811-153580815, 153580936-153580982, 153580998, 153581005-153581011, 153581033-153581043, 153581140-153581163, 153581173, 153581177, 153581228, 153581239-153581292, 153581369, 153581383-153581434, 153581450-153581505, 153581527, 153581530-153581557, 153581566-153581572, 153581672-153581686, 153581689, 153581710-153581762, 153581781-153581818, 153581933-153582013, 153582021-153582028, 153582056-153582095, 153582283-153582287, 153582324-153582330, 153582348-153582390, 153582404-153582411, 153582549-153582586, 153582614-153582643, 153582648-153582659, 153582764-153582778, 153582803-153582827, 153582847-153582851, 153582984-153583079, 153583193-153583248, 153583259-153583265, 153583301-153583315, 153583334-153583440, 153585628-153585642, 153585802-153585823, 153585830-153585907, 153585914-153585918, 153585921-153585931, 153585989, 153586575-153586578, 153586583-153586656, 153586699, 153586702-153586703, 153586824-153586869, 153587366, 153587373-153587386, 153587389, 153587393, 153587400, 153587412-153587415, 153587418, 153587452, 153587455, 153587479-153587503, 153587506, 153587617-153587668, 153587686-153587689, 153587697, 153587702-153587709, 153587740-153587744, 153587749-153587756, 153587759, 153587764-153587774, 153587852-153587972, 153587985, 153587988-153587989, 153588000-153588014, 153588100-153588113, 153588120-153588165, 153588179, 153588190-153588244, 153588250, 153588264-153588273, 153588359-153588456, 153588464-153588505, 153588518-153588521, 153588560-153588656, 153588709-153588732, 153588832-153588912, 153588920, 153588930, 153588934, 153588955, 153589676-153589795, 153589809-153589842, 153589850-153589852, 153589861, 153589868, 153589878, 153589881, 153589927-153589938, 153590038-153590041, 153590067-153590080, 153590092, 153590096-153590103, 153590106-153590111, 153590142-153590155, 153590347-153590358, 153590385-153590386, 153590395, 153590398-153590399, 153590402, 153590417, 153590454, 153590466, 153590470-153590482, 153590492, 153590610-153590637, 153590644-153590685, 153590696-153590700, 153590795-153590880, 153590937-153590946, 153591038-153591063, 153591107, 153592403-153592412, 153592441-153592464, 153592525-153592533, 153592649-153592651, 153592667, 153592894-153592895, 153592939, 153592975, 153592991-153592994, 153593001-153593008, 153593191, 153593205-153593240, 153593254-153593260, 153593504-153593527, 153593577-153593605, 153593627, 153593761, 153593786-153593790, 153593800, 153593814-153593845, 153594392-153594432, 153594445-153594487, 153594528, 153594690, 153594807-153594809, 153594815-153594825, 153594930-153594944, 153595211, 153595214-153595218, 153595765-153595773, 153595819, 153595830-153595837, 153596014-153596047, 153596062-153596097, 153596210-153596255, 153596265-153596286, 153596293-153596295, 153596299, 153596305-153596308, 153596311, 153596333-153596376, 153596408, 153596413, 153596444-153596458, 153599241-153599256, 153599280-153599321, 153599333, 153599336, 153599344-153599503, 153599515-153599578, 153599597-153599613
772EMDX0.70065359477124229765153607863-153607867, 153607891, 153607894-153607917, 153607921-153607922, 153608050-153608103, 153608112, 153608124-153608154, 153608313-153608357, 153608711-153608727, 153609133-153609145, 153609256-153609257, 153609264-153609267, 153609354, 153609393-153609411, 153609446, 153609456, 153609465, 153609469, 153609542-153609547
773TAZX0.9062103929024174789153640205-153640250, 153640289, 153640445, 153640452, 153640464-153640465, 153640484, 153640502-153640506, 153640512, 153640517-153640531, 153641556
774GDI1X0.97172619047619381344153665609, 153666880-153666882, 153667185-153667188, 153668394, 153668408-153668418, 153668422-153668434, 153669538-153669542
775G6PDX0.911477411477411451638153760215-153760234, 153760264-153760291, 153760403, 153760457, 153760612, 153760646-153760677, 153760913-153760934, 153761311-153761322, 153761821, 153762268, 153762617, 153762669, 153762674, 153763545, 153775026-153775027, 153775033, 153775067-153775085
776IKBKGX0.9972677595628441464153780382, 153788749-153788750, 153788753
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3MBL2-G54Dhomozygous0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
2SP110-M579Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M523Thomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
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
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
2CYP2C9-R144Chet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-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
2H6PD-R453Qhomozygous0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
1.5KRT5-G138Ehet unknown0.052Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5VSX1-G160Dhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.011 (benign)
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-L14LVLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5SFTPA1-L50Vhet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5SFTPA1-R219Whet unknown0.085Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
1SLC26A3-C307Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-N830Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
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
1PLAC4-W81ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V417Ihomozygous0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1CCDC66-D5ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1CCDC66-E592Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-V17Mhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-D25Ghet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A222Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCN5A-H558Rhomozygous0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC22A1-R61Chet unknown0.057Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M408Vhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M420Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-G465Rhet unknown0.019Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-R29HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027052-T53ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-Y63NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), 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
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1MS4A14-Q612Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHAT-A120Thomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
1CHAT-D400Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N106ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF880-N140NNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-R198Shomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N202Hhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-K471Rhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-L2688Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-C1414Yhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TJP1-D1347Ahomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCSK1-S690Thomozygous0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CACNA1S-R1539Chomozygous0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-A69Ghet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RHBG-G315Rhomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RHBG-P424ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1F5-M1764Vhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1USH2A-I1665Thomozygous0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-G713Rhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75UNC13D-A1085Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75UNC13D-T321Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.75DYX1C1-E417*het unknown0.201Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
0.75DYX1C1-E191Ghet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.249 (possibly damaging)
0.75ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ALK-R1248*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75ALK-V476Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ARSA-L100Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WHAMM-H736Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5SLC28A1-L140LVhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-R510Chet unknown0.041Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCR7-M7Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.364 (possibly damaging)
0.5CNGB1-K911Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-L745Ihet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-G238Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NPEPPS-G322Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PDE8A-L55Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PDE8A-R368Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TAT-P15Shomozygous0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5NOB1-Y366Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging)
0.5NOB1-R231Qhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5MYO15A-F1774Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-T2654Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-L2662Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNRG-D746Nhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SYNRG-T222Ahet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5SYNRG-A40Ghet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-S12Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-I7Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-F6Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-R4Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.24 (possibly damaging)
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-Q440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP1-M1184Vhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP1-V1059Mhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5NLRP1-V939Mhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NLRP1-L155Hhet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.064 (benign)
0.5MYH13-R1822Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYH13-D1076Ehet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYH13-M1071Vhet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTF3C1-R1630Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SULT1A2-K282Ehomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SULT1A2-Y62Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COX10-R159Qhomozygous0.486Unknown
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
0.5KLF1-S102Phet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLF1-M39Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF154-R192*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF154-L182Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAJC5G-G27Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5EIF2B4-R326Ghet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPN1-H39Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPN1-G523Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EMP3-I125Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.878 (probably damaging)
0.5BCKDHA-P39Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-AE6PKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CARD8-V43Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CARD8-C10*het unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-C688Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC4A5-H253Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.5HTRA2-A141Shet unknown0.017Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-R392Chomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thomozygous0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2100Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N3304Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V1B1-T30Ihomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRD5A2-L88Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRD5A2-A48Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5FSHR-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
0.5AURKAIP1-K199Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5PRODH2-R525Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging), Testable gene in GeneTests
0.5DSG3-S771Fhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DSG3-T912Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-S61Ahomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-P1208Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5NPC1-R1266Qhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-E453Qhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASKIN2-R835Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5LAMA1-L2144Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LAMA1-K2002Ehomozygous0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-A1763Vhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-D1682Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.656 (possibly damaging)
0.5LAMA1-M1340Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5LAMA1-N674Thomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.167 (benign)
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ZNF57-T223Nhomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.654 (possibly damaging)
0.5FCHO1-R186Qhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5IL12RB1-G378Rhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5IL12RB1-M365Thomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-Q214Rhomozygous0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.5ZNF792-N425Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRAMD1A-R448Whet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5UNC13A-A1220Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A447Thomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNASEH2A-L202Shet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNASEH2A-D205Ehet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1024-N258Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5CCDC130-S22Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5MLH3-S966Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1A1-I462Vhet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.488 (possibly damaging)
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
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP54-G1514Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5LRIT2-T510Phomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRIT2-V496Ahet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRIT2-L220Fhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5LRIT2-K179Nhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.827 (possibly damaging)
0.5ZNF248-K218Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADARB2-A626Thomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ADARB2-A44Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ECHDC3-A69Thomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-D162Nhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-G1264Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RGR-S245Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2C8-K399Rhet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F2-T165Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MICAL2-L1106Phet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAG3-R71Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TACC2-E719Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-G2730Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-A2732Thomozygous0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IFITM3-H3Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.804 (possibly damaging)
0.5ACADSB-R13Khomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RSPO1-K162Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LEPRE1-M549Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5PTPRF-H1730Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5GJA4-R132Chet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5GJA4-P319Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5PEX10-T274Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX10-L113Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5TNFRSF1B-M196Rhomozygous0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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-M562Thomozygous0.889Unknown
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
0.5ACOT11-R20Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.938 (probably damaging)
0.5NGF-A35Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5ZNF687-G259Ehet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF687-G636Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5PGLYRP4-G192Vhomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PGLYRP4-Q92Rhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.719 (possibly damaging)
0.5PGLYRP4-I13Lhomozygous0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASPM-L3132Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG6-Y131Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), 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
0.5GFI1-S36Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A1-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
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-ML1444IFhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-P52Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-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
0.5GALC-R184Chet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTGER2-C83Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5REM2-R79Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R521Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPM1-H1498Qhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRPM1-E1375*het unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VPS13C-D3715Yhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5VPS13C-S2913Nhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-V2322Mhomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-I1495Vhomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5VPS13C-Y1302Chomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-R974Khomozygous0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AAGAB-V139Ihet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM7-T1482Ihet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5TRPM7-I75Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USP8-D443Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B4-H452Nhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP8B4-N225Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP8B4-R13Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shomozygous0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-H2562Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1772Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1155Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-G2705Rhet unknown0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N2081Dhet unknown0.014Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
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-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ST14-R85Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-V1956Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BCL9L-L1232Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BCL9L-R1231Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PARP4-I1564Thomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1550Phomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1459Yhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1394Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-R1108Chomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1080Rhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-V1065Ahomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-M936Thomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-A899Thomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I81Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MYO1A-V306Mhet unknown0.006Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5WDR62-L850Shet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-M1134Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-G1375Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhet unknown0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFP57-D368Vhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MDC1-D1855Ehet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5MDC1-V1791Ehet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5MDC1-P1745Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5MDC1-R1299Qhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MDC1-P1283Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.766 (possibly damaging)
0.5MDC1-L1207Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MDC1-S1112Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MDC1-P1100Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5MDC1-R179Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-A47Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-H179Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T204Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
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
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G77Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A70Vhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), 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
0.5SLC22A16-V252Ahomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.5SLC22A16-H49Rhomozygous0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5REV3L-V3064Ihet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5REV3L-T1224Ihomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5REV3L-S1220Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.201 (possibly damaging)
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R182Hhet unknown0.044Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.038 (benign), Testable gene in GeneTests
0.5EFHC1-I619Lhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TCTE1-E157Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TCTE1-P35Lhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.408 (possibly damaging)
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLPS-R55Hhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
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
0.5CAPN11-L142Phet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CAPN11-V266Mhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-A19Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-I59Vhet unknown0.606Unknown
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
0.5SLC26A2-T689Shet unknown0.197Unknown
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
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-V12Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T4220Ahet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
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-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5WFS1-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
0.5N4BP2-D611Nhet unknown0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5N4BP2-G1737Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GPRIN3-V446Ahet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN3-P390Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5GPRIN3-L39Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OSMR-G578Dhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5LECT2-G63Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LECT2-I58Vhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC25C-G297Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NR3C1-N363Shet unknown0.022Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SPINK5-D106Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-D386Nhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-H1002Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5EPB41L4A-R630Hhet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPB41L4A-R587Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-I1647Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5AKAP12-K117Ehet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K216Qhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-S887Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5AKAP12-E1531EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKAP12-E1600Dhet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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-T8687Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (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-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOL8-K165Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V771Mhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SVEP1-A2750Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-D2702Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SVEP1-L1648Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-Q581Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5EXOSC3-Y225Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5AQP7-G264Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IFNA16-D95Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.726 (possibly damaging)
0.5IFNA16-V65Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA17-H57Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IFNA1-V10Ahet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA1-A163Ghet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-P562Ahet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H2BFWT-R123Hhomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.5H2BFWT-R87Whet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5UTP14A-N753Hhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5IGBP1-I203Thet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC35A2-S354SSShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC35A2-P15Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-R1045Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-Q1938Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOSPD2-S240Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5HDAC6-R832Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-A829Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MDH2-K301Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5HOXA1-H146Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
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
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK1-K558Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFHX4-P1228Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.679 (possibly damaging)
0.5ZFHX4-P2424Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5MLL3-S3588Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MLL3-G845Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5MLL3-N729Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-L687Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5TMEM176A-R109Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TMEM176A-T122Ahomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM176A-L187Fhet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.95 (probably damaging)
0.5TMEM176A-T208Ahomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZCWPW1-T153Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CFTR-R75Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS1-S181Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-M183Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC23B-V426Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC23B-P433Lhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.686 (possibly damaging)
0.5SEC23B-H489Qhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5COL18A1-V144Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-A288Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-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-S3091Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.312 (possibly damaging), Testable gene in GeneTests
0.5PCNT-R3245Shet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5ITGB2-R285Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC3-M840Thet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-D1751Hhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC22A14-L238Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A14-V284Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-S292Ghomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-P560Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FOXL2-GPAASYGPYT250DPAASFGPYPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FOXL2-A179Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TF-G277Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TF-I448Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBC1D5-I696Vhomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBC1D5-L95Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CIDEC-T49Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-N51Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
0.5SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-H615Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-E276Khomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R25715Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5DL492456-R148Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-W104*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SSFA2-P836Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5COL4A3-P116Thet unknownUnknown
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-D326Yhet unknown0.169Unknown
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
0.5ALPP-E37Qhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALPP-I89Lhet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T1368Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A4-S1400Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-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-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FREM2-R1344Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TRIOBP-P89Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-H1300Rhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.375TRIOBP-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.375TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.375OTOF-D736Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375NLRP7-QL310RIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375AIM1-E1196Ahet unknown0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.375AIM1-W1545*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.375HNF1A-T354Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CPN2-A252Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.375ACAT1-R258Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SEMA3F-A370Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SEMA3F-L503Mhomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-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
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-N226Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-M510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
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
0.25OR2T4-C60Shomozygous0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.066 (benign)
0.25OR2T4-A104Vhomozygous0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR2T4-F135Lhomozygous0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25OR2T4-V137Lhomozygous0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR2T4-M150Shifthet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25OR2T4-M168Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OR2T4-G259Rhomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR2T4-P300Shomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.067 (benign)
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25OBSCN-Q502Rhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.25OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25OBSCN-A1532Vhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25OBSCN-E1595Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OBSCN-D2106Ehomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25OBSCN-H4381Rhomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.25OBSCN-C4450Rhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.25OBSCN-S4642Chomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.25OBSCN-I5335Shifthet 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
0.25FMN2-Q216Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FMN2-P912Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HEATR1-E2017Ghet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.25HEATR1-N1967Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.25HEATR1-V1854Ahet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-N1694Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-S1559Nhet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-A1430Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEATR1-M607Vhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.25HEATR1-G570Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEATR1-H348Rhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IRF2BP2-A254Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IRF2BP2-T201Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-T49Shet unknownUnknown
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
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C17orf57-V312IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SH2B1-T484Ahet unknown0.343Unknown
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
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-G1132Rhet unknown0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AKAP9-Q2975Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25AKAP9-P2979Shet unknown0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GFM1-N43Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GFM1-V215Ihet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25BRCA1-S1533Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-Q356Rhet unknown0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25ZC3H3-P554Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZC3H3-LPPRTGVA235PPPRTGVGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EEF1D-D189Ehomozygous0.930Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EEF1D-L142*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25NSUN4-A32Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NSUN4-T51Ahomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-D295Shifthet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP4B1-M332Ihet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R341Chet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R376Chet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NEUROD1-P197Hhet unknown0.020Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC16A2-S107Phet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAP7D3-Q628Rhomozygous0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.365 (possibly damaging)
0.25MAP7D3-E502Ahomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAP7D3-Q308Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAGEA4-V40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAGEA4-A173Thet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXNB3-P682Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLXNB3-A921Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLXNB3-L952Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25XIAP-Q423Phet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HTR2C-C23Shet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25GSG2-V378Ahet unknown0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GSG2-V473Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CNGA1-D187Nhet unknown0.121Unknown
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)
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.207Unknown
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
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMAN1-V39Ahet unknown0.102Unknown
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-A245Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNH1-P170Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.25RNH1-C159Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNH1-LE149RKhet 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
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPRXL-S70Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TPRXL-P69Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDHB10-T213Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.885 (probably damaging)
0.25PCDHB10-R543Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25GANC-L11Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GANC-Q44Rhomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GANC-S234Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MST1-S565GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-T294Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.17 (benign)
0.25MST1-E202VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-V121Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25JAG2-YD652SAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25JAG2-F482Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25JAG2-E463Khomozygous0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25JAG2-R212*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FAM161B-V644Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM161B-K487Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.246 (possibly damaging)
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK126213-M228Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK126213-R224Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG1-D429Ehet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.25PCNXL3-Q258Rhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCNXL3-Q1741*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TXNDC11-Q840*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TXNDC11-V756Lhet unknown0.506Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS9-A455Thet unknown0.173Unknown
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
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NM_014727-R343Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_014727-Q1489*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NM_014727-K1496Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_014727-D2361Ghomozygous0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_014727-P2363Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELA1-Q243Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Q10Hhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.463 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-R149Chet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25EYS-R2326Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1873Vhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-S1517Ghet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-R1515Whet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1451Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1361Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q1325Ehet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1263Vhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TBX4-G6Ahet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.25HPS4-Q620Hhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CAPN12-V704Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CAPN12-G210Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25TAS2R10-L292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TAS2R10-T156Mhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0TREX1-T104Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0VHL-C77Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0SIAE-M89Vhet unknown0.040Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0LMX1B-L23Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,717,647,183 bases (95.9% of callable positions, 89.9% of total positions)

Coding region coverage: 31,126,420 bases (93.7% of all genes, 94.5% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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