- GET-Evidence variant report

Variant report for

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1LRP5-V667MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0413646This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.1
2COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
3MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
4WFS1-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
5LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.110367In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. 1
6OCA2-A481TLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00148726This variant is associated with lower melanin production and may result in less pigmentation in skin or eyes. The variant is suggested to play a role in oculocutaneous albinism when combined with more severe variants, but these findings lack statistical significance.1
7BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
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
9TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
10H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
11ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0609779This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.1
12ABCC6-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
13NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
14KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
15LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
16NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
17CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
18ALOX12B-P127SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.0167317This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.1
19GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
0.0716676This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).1
20TYR-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
21APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
22F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
23FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
24PCCA-I475VLowUncertainUncertain benign

Unknown, Heterozygous
0.0377394Reported as a polymorphism, tentatively presumed benign.1
25MAPT-Q230RLowUncertainUncertain benign

Unknown, Heterozygous
0.0420019Common polymorphism.1
26BRCA1-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
27TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
28PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
29PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
30F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
31PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
32SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
33TAS2R38-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
34FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
35ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31208216 / 33212919 = 93.96%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.1174649723036854176138955553-955753, 957581-957610, 957618, 957631-957842, 970657-970704, 976045-976260, 976553-976777, 976858-977082, 977336-977345, 977377-977378, 977383, 977394, 977404, 977408-977538, 978619-978785, 978796-978837, 978918-978946, 978972-979112, 979203-979240, 979267-979403, 979489-979637, 979714-979756, 979785-979819, 980542-980549, 980556-980626, 980634-980657, 980755, 980761-980773, 980781-980806, 980809-980811, 980821, 980826-980828, 980839-980903, 981113-981187, 981195-981234, 981241-981256, 981344-981433, 981446-981468, 981540-981557, 981573, 981580-981604, 981615-981645, 981777-982115, 982200-982337, 982707-982779, 982790-982826, 982953-982998, 983006-983037, 983044-983050, 983059-983067, 983159-983166, 983174-983247, 983260-983275, 983392-983745, 984247-984336, 984344-984439, 984616-984825, 984946-985011, 985019-985060, 985072-985134, 985148-985175, 985283-985407, 985413-985417, 985613-985614, 985623-985625, 985629, 985632, 985643-985709, 985807-985847, 985866-985899, 985913, 985926, 985939-985971, 986106-986137, 986140, 986157-986217, 986633-986749, 986833-986905, 986926-986928, 986941-987024, 987108-987195, 989133, 989144-989161, 989177, 989190-989199, 989207-989220, 989234-989245, 989283-989290, 989313-989337, 989352, 989829-989833, 989843-989844, 989854-989881, 989884-989897, 990204-990361
2GABRD10.3119941133186293513591950863-1950930, 1956397, 1956408-1956470, 1956487-1956493, 1956793-1956840, 1956957-1956967, 1956980-1957070, 1957079-1957177, 1959037, 1959041, 1959044-1959050, 1959067, 1959076-1959078, 1959081-1959085, 1959615-1959660, 1959677-1959711, 1960562-1960611, 1960621-1960647, 1960661-1960693, 1960704, 1960993-1961034, 1961066-1961083, 1961090-1961122, 1961167-1961190, 1961200-1961201, 1961437-1961499, 1961520, 1961523-1961526, 1961536, 1961541-1961548, 1961551-1961568, 1961577-1961618, 1961636-1961670, 1961676-1961721
3PEX1010.613659531090723799812337229-2337250, 2337273, 2337923-2337969, 2337981, 2338050, 2338159-2338189, 2338259-2338290, 2338313-2338318, 2339973, 2339984, 2339987, 2339998-2340054, 2340141-2340189, 2340200, 2340204, 2340268-2340282, 2343830-2343941
4NPHP410.9411352487736525242815923966-5923995, 5924416-5924417, 5925253-5925257, 5935061-5935067, 5935123-5935156, 5950949-5950952, 6038330-6038473, 6046220, 6046236-6046239, 6046268-6046285, 6046343, 6046348-6046349
5ESPN10.6900584795321679525656485016-6485234, 6485241-6485309, 6488301-6488332, 6488377-6488392, 6488426-6488433, 6488461-6488479, 6500374-6500419, 6500449-6500490, 6500499-6500500, 6500708-6500733, 6500746-6500811, 6500850-6500868, 6501011-6501035, 6501059-6501065, 6501097-6501103, 6505805, 6505845-6505877, 6508727-6508753, 6508817-6508857, 6508881-6508928, 6508973-6508994, 6509139-6509151, 6512127-6512133
6PLEKHG510.9642521166509911431896528120, 6528124, 6528242-6528267, 6529702, 6530849, 6530855-6530859, 6531127-6531132, 6531859, 6532640-6532669, 6533177-6533178, 6533412, 6533416-6533419, 6534083-6534086, 6534116-6534120, 6534520, 6534577-6534578, 6534615, 6535188, 6556558, 6556562, 6556565-6556578, 6556605, 6557380-6557383
7PARK710.98245614035088105708030955-8030964
8PEX1410.87918871252205137113410535037-10535056, 10684437-10684456, 10689724-10689773, 10689979-10690024, 10690044
9TARDBP10.9598393574297250124511082322-11082362, 11082396-11082402, 11082530, 11082583
10MASP210.80494905385735402206111090894-11090912, 11097750-11097776, 11097795, 11097798, 11097840, 11097843, 11097847, 11103016-11103021, 11103029, 11103033-11103064, 11103073-11103079, 11103442, 11103451-11103473, 11103497-11103522, 11103532-11103577, 11105465-11105470, 11105480-11105539, 11105558, 11105580-11105596, 11106615-11106626, 11106633, 11106656-11106672, 11106748-11106780, 11106960-11106965, 11106969-11106992, 11107123-11107144, 11107172-11107176, 11107260-11107264
11PLOD110.9894688644688623218412026362-12026373, 12034853, 12034856-12034865
12CLCNKA10.81298449612403386206416349179, 16353065-16353082, 16353192-16353193, 16353240, 16353244, 16354520, 16354590, 16355256-16355266, 16355644-16355649, 16355656-16355657, 16355701-16355769, 16355791-16355794, 16356460-16356461, 16356522-16356528, 16356986-16357039, 16357052-16357090, 16357103-16357130, 16357163-16357166, 16358205-16358237, 16358302-16358310, 16358698-16358704, 16358710-16358786, 16358949-16358951, 16360106-16360111
13CLCNKB10.92684108527132151206416372129-16372133, 16374895-16374901, 16375714-16375736, 16377027-16377040, 16378208-16378232, 16378262-16378267, 16378741-16378757, 16378767-16378804, 16381930-16381932, 16382170-16382176, 16383364-16383369
14ATP13A210.95766299745978150354317313036, 17313593-17313626, 17313648, 17313652-17313654, 17318570, 17320272-17320277, 17322493-17322508, 17322565-17322591, 17322901-17322921, 17323605-17323606, 17323617, 17326506-17326526, 17326783-17326787, 17332273, 17338224-17338233
15ALDH4A110.92730496453901123169219203969-19203987, 19203992, 19203997-19203999, 19208250-19208262, 19208324-19208332, 19209649-19209667, 19209819-19209851, 19215882, 19215923-19215947
16PINK110.998281786941583174620960208-20960209, 20960333
17HSPG210.9138585306618111351317622149809-22149858, 22149872-22149902, 22149906-22149908, 22149915-22149916, 22149928, 22149935, 22149943-22149969, 22149972-22149979, 22150139-22150140, 22150153-22150160, 22150199-22150212, 22150629-22150635, 22150664-22150668, 22150677-22150697, 22150813-22150851, 22150859-22150861, 22150865, 22151037, 22151043-22151053, 22151056, 22151065-22151092, 22151197-22151235, 22151266-22151272, 22154400, 22154542-22154549, 22154572-22154574, 22154583-22154585, 22154590, 22154631-22154638, 22154642-22154645, 22154764, 22154807, 22154831-22154847, 22154879-22154919, 22155328-22155341, 22155380-22155397, 22155474-22155520, 22155530-22155548, 22155554, 22155908-22155923, 22155935-22155979, 22156005-22156007, 22156051-22156059, 22156511-22156544, 22156565-22156584, 22157558-22157566, 22157582, 22157993, 22163418-22163426, 22165417, 22165420, 22165428-22165429, 22165444, 22165448-22165456, 22165901, 22166448, 22167658-22167662, 22168075-22168076, 22168082-22168095, 22168123-22168143, 22168518, 22168522-22168523, 22168838, 22169325, 22169401-22169402, 22170745-22170766, 22172720, 22172976, 22172979, 22173066-22173072, 22173879, 22173903-22173935, 22174206, 22174279, 22174317, 22174529-22174541, 22174576-22174585, 22175204, 22175217, 22175221, 22175229-22175230, 22175234-22175235, 22175392, 22175397, 22175441, 22176946-22176948, 22176951, 22178049, 22178066-22178069, 22178093, 22178149, 22178308-22178311, 22178401-22178405, 22178590, 22178601, 22178694, 22179528, 22181397, 22181409-22181426, 22182366-22182372, 22186073, 22186101-22186109, 22186162, 22186167, 22186381-22186442, 22186460, 22186469, 22186473, 22186481-22186484, 22186490-22186495, 22186670-22186678, 22191406-22191411, 22191450, 22191454, 22191466-22191467, 22191560, 22191563, 22199141-22199165, 22199496-22199500, 22199522-22199530, 22206864-22206878, 22206989-22207010, 22207262, 22211096-22211098, 22211103, 22211141-22211162, 22263648-22263710
18WNT410.9166666666666788105622456321-22456331, 22469339-22469415
19FUCA110.90720913633119130140124194421-24194433, 24194446-24194476, 24194514, 24194518, 24194559, 24194572-24194575, 24194632-24194688, 24194711, 24194715, 24194725, 24194729-24194738, 24194768-24194776
20LDLRAP110.976267529665592292725870231-25870240, 25870263-25870273, 25889632
21SEPN110.89028776978417183166826126722-26126904
22COL9A210.996135265700488207040769254-40769257, 40769621-40769624
23KCNQ410.85584291187739301208841249766-41249817, 41249826, 41249846-41249935, 41249944-41250016, 41250040, 41284200-41284213, 41284275-41284314, 41296769-41296770, 41296976, 41300698-41300724
24LEPRE110.9950248756218911221143232390-43232400
25POMGNT110.995461422087759198346660578, 46663399-46663404, 46663449-46663450
26DHCR2410.9896840747904616155155331114-55331119, 55352603-55352612
27PCSK910.9740259740259754207955505553-55505558, 55521671, 55521674, 55521764-55521800, 55521848-55521854, 55524299, 55524303
28COL11A110.99157045995968465457103364252-103364295, 103544344-103544345
29GSTM110.54185692541857301657110230499-110230531, 110230792-110230793, 110230807-110230813, 110230825-110230867, 110231295-110231313, 110231718-110231728, 110231847-110231867, 110231879-110231947, 110232904, 110232908-110232910, 110232951, 110232960-110232976, 110232979-110232988, 110233076-110233130, 110233138, 110233152-110233159
30NOTCH210.977346278317151687416120539665-120539714, 120539913-120539939, 120548022-120548062, 120548091-120548097, 120572529-120572550, 120572569-120572576, 120572609-120572610, 120611960, 120612000-120612009
31HFE210.9937548790007881281145415433-145415440
32PRPF310.9965886939571272052150315794, 150315900-150315901, 150315904, 150315912, 150315915, 150316710
33FLG10.9592154931889149712186152276259-152276260, 152276264-152276265, 152276268, 152276276, 152276713, 152277248-152277271, 152277432, 152277528-152277530, 152277945-152277969, 152278137-152278143, 152278238-152278240, 152278405-152278437, 152278771, 152278917-152278923, 152279109-152279115, 152279210-152279213, 152279380, 152279392, 152279406, 152279743, 152280603-152280617, 152281287-152281335, 152281353, 152281581, 152281589, 152281764-152281765, 152281788-152281789, 152281946-152281947, 152281950-152281957, 152281972, 152282108-152282136, 152282243-152282245, 152282251-152282253, 152282256-152282260, 152282299, 152282302, 152282380-152282394, 152282550-152282553, 152282566-152282568, 152282660, 152282963, 152283102, 152283213, 152283236, 152283246, 152283252, 152283255, 152283332, 152283513, 152283519, 152283525-152283530, 152283533, 152283623, 152283736-152283746, 152283864, 152284072-152284090, 152284208-152284209, 152284239, 152284242, 152284245, 152284325-152284344, 152284587-152284632, 152284995-152285011, 152285185-152285219, 152285241-152285282, 152285404-152285405, 152285679, 152285753, 152285844, 152285860, 152285959-152285961, 152286730
34CHRNB210.9980119284294231509154544426-154544428
35GBA10.9956548727498471611155205040-155205046
36PKLR10.9947826086956591725155269990-155269998
37LMNA10.985890652557328567156105046-156105053
38LMNA10.99047619047619191995156084726, 156105046-156105053, 156108289-156108293, 156108456-156108460
39SEMA4A10.9991251093613322286156131137-156131138
40NTRK110.99121706398996212391156830727-156830741, 156830794-156830798, 156830853
41F510.9988014981273486675169510348, 169510480-169510486
42CFHR110.988922457200411993196797200-196797207, 196797238, 196797244, 196797292
43ASPM10.99961663791451410434197094075, 197094084, 197115491, 197115566
44TNNT210.99549549549554888201338964-201338967
45ADCK310.854938271604942821944227152799-227152817, 227152831-227152842, 227152856-227152861, 227152901, 227152904, 227152911, 227152915-227152916, 227152963-227152975, 227153091-227153095, 227153099, 227153376-227153382, 227153412, 227153415, 227153424-227153428, 227169770-227169771, 227169780-227169847, 227170618-227170630, 227170663-227170705, 227171304-227171317, 227171473-227171505, 227171510-227171511, 227171800-227171806, 227171813-227171814, 227171817-227171818, 227171889, 227172955-227172974
46GJC210.2424242424242410001320228345481, 228345531-228345563, 228345594-228345623, 228345630-228345663, 228345674-228345695, 228345720-228345722, 228345725, 228345737-228345742, 228345746-228345768, 228345774-228345886, 228345897-228345993, 228346001-228346240, 228346270, 228346282-228346301, 228346318-228346508, 228346533-228346588, 228346600-228346642, 228346654-228346701, 228346711-228346748
47ACTA110.89682539682541171134229567308-229567310, 229567766, 229567804-229567874, 229567919-229567930, 229568017-229568020, 229568117-229568121, 229568127, 229568131-229568135, 229568146-229568151, 229568175-229568178, 229568356-229568360
48NET1100.988274706867672117915454659-5454663, 5454704, 5454714-5454715, 5454748-5454760
49GATA3100.977528089887643013358100724-8100753
50OPTN100.9890426758938919173413151239-13151241, 13151252-13151267
51PTF1A100.8044579533941219398723481511-23481540, 23481617-23481634, 23481649, 23481659-23481674, 23481737-23481783, 23481802-23481808, 23481862-23481874, 23481898-23481911, 23481941-23481953, 23481969-23481985, 23482054-23482063, 23482154-23482160
52PDSS1100.997596153846153124826986667-26986669
53RET100.92406576980568254334543572707-43572779, 43595993-43596005, 43596076-43596105, 43596111-43596114, 43596119-43596120, 43597885-43597887, 43597933-43597946, 43598038-43598050, 43598059-43598064, 43600444-43600447, 43600452-43600468, 43600516-43600518, 43600526, 43600570-43600609, 43601859-43601860, 43604542, 43604546, 43606853, 43607598-43607604, 43609007, 43609928-43609929, 43614979, 43615041-43615048, 43619237, 43619251-43619256
54ERCC6100.9964301651048616448250740821-50740836
55CHAT100.9804183355585244224750822271-50822282, 50822348-50822378, 50857563
56EGR2100.9930118798043310143164573019-64573021, 64573024-64573030
57SLC29A3100.997899159663873142873082579-73082581
58CDH23100.99651949085123351005673406331-73406337, 73447462, 73461851, 73462329-73462331, 73462420, 73464759, 73464807-73464808, 73464811, 73464863, 73464869-73464882, 73468876, 73468905, 73468963
59VCL100.999706314243761340575758117
60LDB3100.9560439560439696218488466326-88466328, 88466332, 88466442-88466446, 88469675-88469723, 88476088-88476094, 88476108-88476111, 88476342, 88476346-88476352, 88476460-88476478
61GLUD1100.9803220035778233167788854363-88854369, 88854382, 88854386-88854395, 88854443-88854454, 88854479-88854481
62HPS1100.99192782526116172106100177367, 100177369-100177384
63HPS6100.97723367697594532328103825270-103825279, 103825282-103825287, 103825372, 103825440-103825450, 103825460-103825461, 103825573, 103825600, 103825722-103825742
64COL17A1100.99732977303071124494105816786, 105816913-105816923
65EMX2100.996047430830043759119302796-119302798
66BAG3100.97916666666667361728121411188-121411209, 121411357-121411367, 121436730-121436732
67HTRA1100.738738738738743771443124221169-124221408, 124221425-124221451, 124221464-124221507, 124221523, 124221528-124221529, 124221570-124221604, 124221613-124221640
68HRAS110.52631578947368270570532636-532641, 532666-532689, 532733-532739, 532748-532755, 533467-533533, 533550, 533557, 533768-533777, 533804-533829, 533864, 533879-533944, 534215-534257, 534263-534267, 534278, 534282, 534303, 534321-534322
69TALDO1110.881656804733731201014747491-747515, 747523, 747530, 747542-747578, 755939-755940, 763344-763358, 763396-763416, 763419, 763422-763426, 763433-763442, 763446, 763485
70SLC25A22110.43827160493827546972791937-791946, 791987-792028, 792042-792043, 792058-792068, 792142-792143, 792177-792217, 792313-792362, 792419, 792453-792458, 792553-792727, 792872-792898, 792936, 792940-792965, 792974-792988, 793553-793574, 793589-793619, 794776-794822, 794841-794842, 794845, 794881-794892, 794895, 794900, 794987-795006
71PNPLA2110.472607260726077991515819719-819760, 819776-819801, 819817-819905, 821699, 821714-821755, 821801-821804, 821989, 822485, 822488-822492, 822500-822505, 823563, 823576-823587, 823694-823706, 823757-823758, 823760-823780, 823788-823815, 823998-824018, 824031-824084, 824097-824124, 824314-824315, 824331-824436, 824526-824545, 824569, 824572-824602, 824612-824843, 824853-824862
72CTSD110.5076674737691761012391774750, 1774753-1774755, 1774761-1774774, 1774837-1774852, 1774871-1774884, 1775101-1775120, 1775233-1775266, 1775275-1775277, 1775306-1775368, 1778563-1778567, 1778593-1778622, 1778651-1778660, 1778685-1778717, 1778761-1778786, 1780204-1780233, 1780259-1780317, 1780750-1780778, 1780784, 1780807-1780822, 1780849-1780853, 1780868-1780869, 1782539-1782640, 1782662-1782687, 1785022-1785089
73TNNI2110.785063752276871185491861466, 1861633-1861674, 1861760, 1861771-1861808, 1861816-1861823, 1861886, 1862055, 1862070-1862076, 1862124, 1862355-1862369, 1862697, 1862742-1862743
74TNNT3110.172458172458176437771944785-1944802, 1946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953708-1953718, 1953722, 1954951-1954966, 1954996-1955067, 1955161-1955222, 1955234-1955238, 1955562-1955594, 1955614-1955675, 1955776-1955885, 1956059-1956067, 1956078-1956149, 1958193-1958233, 1959668-1959722
75H19110.8954248366013111210712017755, 2017758-2017761, 2017769-2017806, 2017820-2017831, 2017900-2017938, 2017982, 2017986, 2017996, 2018167-2018168, 2018264, 2018336, 2018356-2018366
76IGF2110.222222222222225537112154217-2154316, 2154327-2154421, 2154445-2154453, 2154759, 2154768-2154819, 2154830-2154833, 2154867-2154895, 2156597-2156622, 2156641-2156682, 2156688, 2156708-2156748, 2161368-2161520
77TH110.085079365079365144115752185463-2185622, 2186462-2186584, 2186590-2186595, 2186898-2186916, 2186927-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189384, 2189390, 2189393-2189395, 2189721-2189872, 2189892-2189895, 2190880-2190884, 2190893-2190960, 2190971-2191089, 2191920-2192000, 2192927-2192959, 2192974, 2192977, 2192981-2192984, 2193001-2193002
78KCNQ1110.7794190054160544820312466329-2466714, 2591973, 2593243-2593256, 2593265-2593281, 2593326-2593331, 2606473-2606475, 2608892, 2790121-2790127, 2799249-2799261
79CDKN1C110.0515247108307059029512905234-2905364, 2905900-2906540, 2906548-2906552, 2906567-2906588, 2906600-2906640, 2906658-2906719
80HBD110.9842342342342374445255652-5255658
81SMPD1110.992088607594941518966411931-6411942, 6411948-6411949, 6411954
82ABCC8110.9964180362410517474617498290-17498306
83WT1110.994208494208499155432456487-32456490, 32456728-32456732
84ALX4110.999190938511331123644331275
85PEX16110.9596541786743542104145931663-45931671, 45932478-45932484, 45939256-45939257, 45939262-45939285
86MYBPC3110.97045751633987113382547353640-47353646, 47365062-47365066, 47369210-47369218, 47370037-47370047, 47371450-47371473, 47371652-47371654, 47372060-47372091, 47372790-47372802, 47372892-47372900
87SLC39A13110.975806451612927111647431821-47431826, 47434971-47434974, 47436425-47436441
88RAPSN110.88297013720743145123947459526-47459528, 47459532-47459569, 47460286-47460297, 47460442-47460444, 47462736, 47463166-47463210, 47463443-47463471, 47469538-47469548, 47469685-47469687
89TMEM216110.871212121212123426461161417, 61165316-61165348
90BEST1110.996018202502847175861723369-61723375
91BSCL2110.9892008639308915138962458779-62458793
92SLC22A12110.50902527075812816166264359097-64359115, 64359147-64359182, 64359316-64359349, 64359355-64359391, 64359407-64359430, 64360251-64360275, 64360282-64360291, 64360300-64360346, 64360352-64360354, 64360877-64360905, 64360926, 64360964-64360972, 64360995-64361017, 64361107-64361122, 64361126, 64361130, 64361150-64361218, 64361267-64361275, 64365988-64365995, 64366015-64366036, 64366280-64366343, 64366349, 64366352-64366354, 64366359-64366363, 64366367-64366387, 64367148-64367201, 64367209-64367362, 64367839-64367843, 64367915-64367922, 64367946-64367947, 64368207-64368233, 64368250-64368287, 64368331, 64368364, 64368960-64368968
93PYGM110.95769078687228107252964521021-64521059, 64521074-64521099, 64521145, 64521355, 64521392, 64521396, 64521765-64521766, 64521787, 64521799-64521802, 64522254, 64525272, 64525742, 64525745, 64527128, 64527138-64527160, 64527171-64527173
94MEN1110.9669913419913461184864572609, 64572615-64572622, 64575024-64575040, 64577330-64577334, 64577337, 64577515, 64577523-64577550
95EFEMP2110.9894894894894914133265637630-65637643
96CST6110.966666666666671545065780297-65780305, 65780328, 65780377-65780381
97SPTBN2110.9725358985083197717366468002-66468029, 66468197-66468200, 66468272-66468273, 66468320-66468337, 66468453, 66468462, 66468465, 66468524-66468529, 66468735-66468737, 66468745, 66469136, 66472168-66472180, 66472211-66472219, 66472240, 66472245, 66472299, 66472519-66472521, 66472631, 66472709-66472712, 66472842, 66472873, 66473245-66473247, 66473250-66473253, 66475084, 66475127-66475129, 66475181, 66475210, 66475240-66475267, 66475636-66475647, 66475651-66475654, 66475719, 66475751-66475755, 66478089-66478100, 66478176-66478178, 66478183-66478184, 66478478, 66481787-66481801
98PC110.9872773536895745353766617573-66617575, 66617734, 66618378, 66618572, 66618575, 66619935, 66620039-66620044, 66620107-66620108, 66620299, 66631311, 66636347, 66638855-66638858, 66638898-66638904, 66639190-66639199, 66639205, 66639214-66639215, 66639514-66639515
99CABP4110.6799516908212626582867222948, 67222951-67222970, 67222973-67222974, 67222993, 67223067-67223115, 67223125-67223128, 67223139-67223182, 67223205, 67223209, 67223236-67223239, 67223247-67223256, 67223659-67223686, 67223821-67223833, 67223836-67223845, 67225078-67225090, 67225138-67225153, 67225874-67225878, 67225905-67225936, 67225960-67225966, 67225979-67225982
100AIP110.2799597180261871599367254477-67254503, 67254523, 67254526, 67254532-67254534, 67254562-67254582, 67254606-67254635, 67256745, 67256749-67256751, 67256762-67256766, 67256772-67256834, 67256847-67256848, 67256868, 67256878-67256926, 67257509-67257515, 67257525-67257582, 67257591-67257685, 67257787-67257928, 67258259-67258464
101NDUFS8110.5560821484992128163367799636-67799644, 67799659-67799672, 67799766-67799802, 67800390-67800420, 67800586-67800617, 67800638-67800723, 67803728-67803740, 67803774-67803775, 67803785-67803800, 67803820, 67803843, 67803931, 67803941-67803971, 67803994-67804000
102TCIRG1110.66546329723225834249367808779, 67808782-67808784, 67808822-67808828, 67808852-67808855, 67810110-67810149, 67810171, 67810192-67810208, 67810259-67810320, 67810429-67810460, 67810901-67810943, 67811038-67811076, 67811102-67811103, 67811292-67811325, 67811333-67811365, 67811599-67811605, 67811611-67811619, 67811648-67811688, 67811728-67811732, 67811755, 67811758-67811790, 67812533-67812535, 67812538, 67815022-67815031, 67815173, 67815227-67815254, 67815353, 67815435-67815439, 67816349, 67816390-67816393, 67816548, 67816569-67816595, 67816639-67816645, 67816698-67816721, 67816746-67816761, 67817130-67817131, 67817175-67817219, 67817225-67817254, 67817429-67817434, 67817438-67817439, 67817469, 67817480-67817489, 67817604-67817632, 67817641-67817660, 67817681-67817720, 67817954-67817961, 67817985-67818011, 67818034, 67818082-67818089, 67818119-67818125, 67818210-67818230, 67818253-67818286
103LRP5110.96390264026403175484868080183-68080273, 68115417, 68131215-68131227, 68131270, 68131303-68131310, 68131368, 68201227-68201233, 68201304, 68204410-68204411, 68204445-68204453, 68205972-68205978, 68207347-68207376, 68216342-68216343, 68216519-68216520
104CPT1A110.999569336778641232268571490
105IGHMBP2110.96009389671362119298268671421-68671422, 68671471-68671497, 68671500, 68696689-68696702, 68702832-68702848, 68702857-68702858, 68704028-68704030, 68704073-68704113, 68704254-68704265
106MYO7A110.759626955475331598664876858890-76858913, 76873919-76873923, 76874022, 76883794-76883805, 76883816-76883832, 76883841, 76883847, 76883857-76883858, 76883879-76883912, 76883920-76883921, 76885802-76885883, 76885892-76885954, 76886418-76886490, 76886509-76886510, 76888595, 76888602-76888605, 76888608-76888673, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892557, 76892578-76892630, 76892997-76893100, 76893142-76893200, 76893469-76893504, 76893533-76893593, 76893613, 76893624-76893634, 76894113-76894167, 76894174-76894202, 76895651-76895661, 76895707-76895732, 76895756-76895760, 76900389-76900393, 76900406-76900419, 76900422-76900423, 76900499-76900515, 76901065-76901069, 76901110-76901112, 76901117-76901151, 76901182, 76901756-76901773, 76901811, 76901849-76901870, 76901904-76901915, 76903111, 76903176-76903224, 76903252-76903264, 76903288-76903296, 76903300-76903301, 76909663-76909666
107FZD4110.999380421313511161486666089
108TRPC6110.9992846924177422796101359770-101359771
109RDX110.9971461187214651752110108223-110108227
110APOA1110.9266169154228959804116706625-116706626, 116706711-116706753, 116706795-116706807, 116706815
111FXYD2110.9566210045662119438117693196-117693199, 117693249-117693251, 117693255, 117693299-117693309
112ROBO3110.9980773852439384161124735502, 124738751-124738757
113WNK1120.99846132326199117149862821-862831
114CACNA2D4120.997949619215734141909565-1909569, 2027436-2027437
115CACNA1C120.99862825788752965612794934-2794940, 2800299-2800300
116VWF120.99538024164893984426131926-6131961, 6132030, 6166051, 6166138
117TNFRSF1A120.989766081871351413686438610-6438616, 6438653-6438659
118TPI1120.89066666666667827506976731-6976766, 6976818-6976845, 6979461-6979478
119ATN1120.991603694374483035737045905-7045918, 7047212-7047218, 7050647-7050655
120PEX5120.99841772151899318967343925-7343927
121PKP2120.9852824184566437251433049443-33049470, 33049550-33049558
122LRRK2120.998813291139249758440761539, 40761542-40761549
123COL2A1120.9975358422939111446448372471, 48398061-48398069, 48398080
124MLL2120.971229083905144781661449420772-49420780, 49424109-49424110, 49424145, 49424462-49424481, 49425026-49425029, 49425096-49425125, 49425784-49425799, 49426194, 49426558-49426576, 49426589-49426665, 49426703, 49426716-49426717, 49426737-49426738, 49426772-49426774, 49426781, 49426784, 49426906-49426908, 49426914-49426926, 49426956-49426972, 49427043-49427044, 49427047-49427049, 49427052-49427078, 49427083, 49427086, 49427089, 49427093, 49427120-49427122, 49427251-49427282, 49427314-49427322, 49427570-49427572, 49427658-49427661, 49427664-49427676, 49430978, 49431152, 49431209-49431216, 49431269-49431305, 49431343-49431345, 49431350-49431353, 49431522, 49431525-49431528, 49431566, 49431674-49431676, 49431720, 49431743, 49431853-49431859, 49431863, 49431870, 49431882-49431883, 49431898-49431914, 49431979-49431990, 49432040-49432043, 49432211, 49432381-49432384, 49432409, 49432509, 49432515, 49432526, 49432535-49432537, 49433275, 49433317-49433318, 49433325, 49433370-49433380, 49433761-49433762, 49434043, 49434074, 49434078-49434087, 49434092, 49434520, 49440508-49440509, 49440572-49440573
125DHH120.993282955499588119149483742-49483747, 49488206, 49488229
126TUBA1A120.728070175438612445649522213, 49522266-49522314, 49522383-49522414, 49522445, 49522457, 49522468, 49522572-49522605, 49522621-49522625
127ACVRL1120.9715608465608543151252307397-52307439
128KRT81120.9637681159420355151852682999-52683005, 52684021-52684061, 52685185-52685190, 52685204
129KRT86120.9712525667351142146152696893-52696933, 52697952
130KRT6B120.9699115044247851169552844243, 52844246, 52844265, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845797-52845805
131KRT6C120.9687315634218353169552864929-52864951, 52865903, 52865906, 52865918, 52865925, 52867187-52867193, 52867257-52867263, 52867324, 52867339-52867342, 52867457-52867463
132KRT6A120.9469026548672690169552886619-52886669, 52886708-52886714, 52886772-52886796, 52886908-52886914
133KRT5120.99605188945297177352908850, 52908897-52908900, 52912892-52912893
134RPS26120.951149425287361734856436209-56436225
135GNS120.9783001808318336165965152965-65152987, 65153008-65153020
136HAL120.995947315096258197496370219-96370226
137TMPO120.999520383693051208598909897
138UNG120.9798301486199619942109535566-109535584
139MMAB120.9747675962815419753110011256-110011274
140TRPV4120.98662079510703352616110230599-110230602, 110234348-110234354, 110234472-110234478, 110238549-110238555, 110240811-110240819, 110240939
141MYL2120.99401197604793501111348904-111348906
142ATXN2120.830035514967026703942112036589-112036590, 112036595, 112036612-112037157, 112037178-112037290, 112037311-112037318
143SDS120.998986828774061987113836605
144HNF1A120.97943037974684391896121434194-121434198, 121434350-121434363, 121437306-121437307, 121437315-121437329, 121437361, 121437396-121437397
145HPD120.9923857868020391182122286961-122286964, 122286967, 122287599, 122287602-122287604
146ATP6V0A2120.9980552314274652571124197193, 124197202-124197204, 124229162
147PUS1120.92601246105919951284132414305-132414341, 132414452-132414467, 132414509, 132414551-132414554, 132414607-132414630, 132425959, 132426000-132426004, 132426051, 132426446-132426451
148PDX1130.987089201877931185228494553-28494563
149B3GALTL130.9772879091516434149731774222-31774227, 31774254-31774281
150FREM2130.999894847528921951039262057
151TNFSF11130.9937106918239695443148451-43148452, 43148496, 43148502-43148504
152RB1130.999641191245071278748878114
153ZIC2130.869918699186992081599100634390-100634422, 100634517-100634529, 100634565-100634594, 100634605-100634611, 100634701-100634704, 100634801-100634812, 100635008-100635010, 100635059-100635066, 100637310-100637311, 100637726-100637760, 100637780-100637812, 100637825-100637852
154COL4A1130.98463073852295775010110864255, 110864264, 110864266-110864269, 110959291-110959300, 110959314-110959374
155F7130.07640449438202212331335113760156-113760219, 113765004-113765030, 113765037-113765164, 113768079-113768083, 113768161-113768248, 113768254-113768274, 113769974-113770057, 113770078-113770114, 113771080-113771143, 113771158-113771165, 113771169-113771189, 113771787-113771822, 113771827-113771831, 113771843-113771875, 113771895-113771910, 113772727-113773322
156F10130.841172460804362331467113777177-113777239, 113798215, 113798231, 113798263-113798273, 113801693-113801714, 113803238-113803240, 113803368, 113803393-113803427, 113803445-113803451, 113803536-113803551, 113803564-113803587, 113803618-113803655, 113803689-113803690, 113803757-113803763, 113803808-113803809
157GRK1130.96572104018913581692114321768-114321774, 114322228-114322240, 114322368-114322370, 114325870-114325878, 114325956, 114426083-114426093, 114436003-114436015, 114438260
158RPGRIP1140.9989639989644386121769149-21769151, 21785864
159PABPN1140.921824104234537292123790839-23790879, 23790896-23790902, 23790914, 23790924, 23790927, 23790942-23790961, 23790977
160MYH6140.999656357388322582023858209, 23858837
161MYH7140.9975895316804414580823884838-23884847, 23886753, 23887578, 23887581, 23895994
162NRL140.98739495798319971424550675-24550683
163PCK2140.999479979199171192324572450
164TINF2140.994837758112097135624711500-24711506
165TGM1140.975957620211959245424718610, 24723914-24723917, 24724411-24724425, 24725243-24725246, 24727562-24727583, 24731440-24731444, 24731449-24731456
166FOXG1140.77414965986395332147029236486-29236487, 29236531-29236542, 29236576-29236592, 29236620-29236725, 29236741-29236861, 29236872-29236945
167COCH140.998185117967333165331344279, 31344282-31344283
168NKX2-1140.9668325041459440120636986618-36986625, 36986832-36986837, 36986891-36986892, 36986903, 36988368-36988373, 36988377-36988389, 36989331-36989334
169MGAT2140.996279761904765134450088122, 50088133-50088134, 50088145, 50088458
170C14orf104140.9677804295942781251450100372, 50100666-50100670, 50100683, 50100689, 50100712, 50100717, 50100949, 50100970, 50100976-50100996, 50101078-50101101, 50101131-50101137, 50101269-50101272, 50101346, 50101353, 50101365, 50101370, 50101374, 50101396-50101397, 50101458, 50101555, 50101563-50101565, 50101706
171GCH1140.99203187250996675355369293-55369298
172VSX2140.9539594843462250108674706337, 74706369-74706370, 74706382-74706386, 74706418-74706440, 74706462-74706480
173EIF2B2140.993371212121217105675471587-75471593
174MLH3140.999082989454384436275506635-75506638
175ESRRB140.998690242305172152776964678, 76964691
176POMT2140.9875721260541528225377786842, 77786869-77786870, 77786894-77786898, 77786967-77786979, 77786983-77786989
177ATXN3140.9594843462246844108692537279, 92559627-92559662, 92563075-92563081
178AMN140.03817914831130713101362103389045, 103389052-103389053, 103389057-103389068, 103390066-103390123, 103390130-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
179INF2140.441620943750105167709-105167751, 105167766-105167770, 105167787-105167790, 105167801, 105167807, 105167817-105167835, 105167841-105167956, 105167962-105167965, 105167983-105167999, 105168011, 105168035-105168040, 105168055-105168056, 105169481-105169500, 105169533, 105169536-105169551, 105169648-105169687, 105169699-105169729, 105169743-105169767, 105169781-105169791, 105170253-105170285, 105172372-105172392, 105172395, 105172398-105172401, 105172424, 105173250-105173252, 105173262, 105173273-105173292, 105173308, 105173356, 105173371, 105173592, 105173600, 105173603, 105173616-105173619, 105173622-105173627, 105173649-105173664, 105173674-105173816, 105173844-105174339, 105174773-105174789, 105174810-105174831, 105174887-105174906, 105174912-105174924, 105175008-105175014, 105175044-105175064, 105175685, 105175961-105175997, 105176018-105176042, 105176425-105176467, 105176505-105176525, 105177274-105177276, 105177305-105177327, 105177416-105177446, 105177459-105177461, 105177464-105177523, 105177966-105177969, 105178006-105178013, 105178024-105178036, 105178774-105178789, 105178816-105178833, 105178846-105178883, 105178889-105178890, 105179165-105179224, 105179251-105179295, 105179307-105179329, 105179544-105179555, 105179578-105179638, 105179784-105179802, 105179821-105179882, 105179910-105179943, 105180556-105180573, 105180587-105180588, 105180591-105180609, 105180616-105180617, 105180645, 105180665-105180674, 105180677-105180680, 105180719, 105180753, 105180756, 105180774-105180790, 105180860, 105180906-105180943, 105180954-105180965, 105180977-105181036, 105181084-105181087, 105181097-105181098, 105181131, 105181134, 105181137-105181154, 105181623
180NIPA1150.8202020202020217899023086234-23086411
181UBE3A150.9920091324200921262825615777-25615783, 25616251-25616257, 25616620-25616626
182IVD150.99921935987511128140698038
183CHST14150.87709991158267139113140763427, 40763431, 40763452-40763497, 40763503-40763553, 40763566-40763589, 40763678-40763693
184CDAN1150.999185667752443368443022925-43022926, 43028677
185STRC150.9934309309309335532843896303-43896312, 43897496-43897502, 43900150-43900156, 43907745-43907751, 43908558, 43908561, 43909899, 43910440
186STRC150.995897435897448195044007207-44007213, 44009361
187SPG11150.999590834697223733244864890-44864892
188DUOX2150.9937594146761429464745403367-45403385, 45403427, 45403582-45403590
189TPM1150.99649122807018385563336014-63336016
190MAP2K1150.999153976311341118266679714
191CLN6150.955128205128214293668500480-68500490, 68521853-68521883
192NR2E3150.999094202898551110472103873
193HCN4150.81478405315615669361273615052-73615061, 73615132-73615166, 73615170-73615176, 73615439-73615440, 73615518-73615528, 73616146-73616154, 73616209-73616215, 73616438-73616440, 73616490-73616492, 73659932-73659964, 73659989-73660084, 73660105-73660311, 73660332-73660473, 73660489-73660571, 73660581-73660583, 73660594-73660611
194PSTPIP1150.0367705835331731205125177310489-77310589, 77310798-77310823, 77310834-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
195FANCI150.997742663656889398789790907-89790915
196POLG150.9965053763440913372089871751-89871753, 89872036-89872038, 89876828-89876833, 89876841
197MESP2150.75628140703518291119490319644-90319671, 90319726, 90319760-90319772, 90319784-90319822, 90319843-90319874, 90319930-90319971, 90320011-90320050, 90320091-90320093, 90320096, 90320102-90320146, 90320149, 90320161, 90320185, 90320383-90320425, 90321509
198BLM150.9967089797837314425491304224, 91337546-91337558
199IGF1R150.9946393762183222410499192887-99192904, 99500519-99500520, 99500524-99500525
200HBZ160.4032634032634256429202949-202973, 202981-203003, 203891-203899, 203931-203981, 203991-204010, 204022, 204027-204042, 204047, 204059-204064, 204070-204095, 204271-204328, 204350-204356, 204359-204360, 204370-204371, 204381-204384, 204387-204391
201HBA2160.62004662004662163429222912-222930, 222961-223006, 223126-223153, 223210-223254, 223298-223305, 223478-223493, 223529
202GNPTG160.90958605664488839181401967-1401980, 1401991-1402018, 1402114-1402133, 1402154, 1402240-1402241, 1402283-1402300
203CLCN7160.53267162944582113024181496632-1496666, 1496689-1496718, 1497007-1497087, 1497396-1497443, 1497450, 1497460, 1497470-1497508, 1497515-1497569, 1497656-1497701, 1497712-1497715, 1498356-1498364, 1498371-1498422, 1498447-1498457, 1498459-1498479, 1498483-1498485, 1498682-1498767, 1498967-1499044, 1499052-1499069, 1499277-1499313, 1499322-1499328, 1500498-1500506, 1500545-1500562, 1500612-1500626, 1500638-1500667, 1501624-1501634, 1501701-1501717, 1502756-1502780, 1502793-1502825, 1502848-1502854, 1502876, 1502884-1502894, 1503844, 1503846-1503848, 1503851-1503870, 1503875-1503876, 1503879, 1504412-1504423, 1504459-1504466, 1505145-1505171, 1505183-1505220, 1505732-1505738, 1506114-1506120, 1506147-1506164, 1506182-1506207, 1507255-1507264, 1507338, 1507743-1507745, 1509112-1509115, 1509124, 1509186-1509188, 1524841, 1524849-1524850, 1524858-1524953
204IGFALS160.37111801242236121519321840601, 1840622-1840694, 1840703-1840716, 1840729-1840754, 1840760-1840787, 1840803-1840834, 1840843-1840896, 1840950-1840967, 1840985-1841011, 1841019-1841037, 1841051, 1841056-1841057, 1841073, 1841076, 1841084-1841182, 1841206-1841327, 1841341-1841361, 1841372-1841394, 1841451-1841479, 1841495-1841592, 1841609-1841650, 1841668-1841671, 1841678-1841686, 1841698-1841707, 1841755-1841757, 1841769-1841775, 1841799-1841925, 1841950-1841981, 1842001-1842047, 1842062-1842095, 1842113-1842146, 1842157, 1842189, 1842197-1842198, 1842208-1842209, 1842212, 1842240-1842247, 1842277-1842340, 1842349, 1842360-1842416, 1842422-1842440, 1842488, 1842491, 1842499-1842500, 1842505, 1843638-1843653
205GFER160.396440129449843736182034220-2034255, 2034272-2034477, 2034748-2034782, 2034794-2034798, 2034840-2034846, 2034879-2034893, 2034901-2034910, 2034918-2034943, 2035867-2035869, 2035917-2035946
206TSC2160.21386430678466426454242098621-2098642, 2098719-2098749, 2100423-2100449, 2100462-2100487, 2103343-2103348, 2103358-2103453, 2105409, 2106197-2106212, 2106665-2106671, 2108748-2108766, 2108788, 2108813-2108836, 2108866-2108874, 2110671-2110673, 2110705-2110722, 2110730-2110795, 2110804, 2111872, 2111891-2111940, 2111956-2111959, 2112004-2112009, 2112533-2112555, 2112568-2112600, 2112977-2113023, 2113032-2113040, 2113046-2113053, 2114273-2114278, 2114293-2114338, 2114352-2114428, 2115532-2115533, 2115538-2115571, 2115576-2115581, 2115590-2115636, 2120462-2120469, 2120478-2120537, 2120546-2120579, 2121512-2121563, 2121577-2121617, 2121785-2121935, 2122242-2122259, 2122286-2122289, 2122313-2122364, 2122850-2122854, 2122872-2122897, 2122905-2122906, 2122924-2122955, 2122973-2122984, 2124201-2124390, 2125800-2125815, 2125822-2125828, 2125851-2125889, 2126069-2126131, 2126140, 2126148-2126171, 2126492-2126585, 2127599-2127623, 2127636-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132444-2132505, 2133696-2133817, 2134229-2134651, 2134659-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
207PKD1160.001006815365551512899129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147737, 2147751-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
208ABCA3160.8801564027370561351152327956-2327964, 2327978-2328007, 2328062-2328070, 2328319, 2328388, 2328391, 2328979-2328987, 2329045-2329060, 2329106-2329112, 2331384-2331405, 2331413-2331434, 2331500, 2333187-2333218, 2333258, 2333266, 2333329, 2334292-2334322, 2334337-2334375, 2334426, 2334922, 2334951-2334999, 2335443-2335445, 2335497, 2336918-2336933, 2338030-2338035, 2338190, 2338320, 2339511-2339514, 2339553-2339569, 2342149-2342194, 2345591-2345611, 2345630, 2345726, 2345738, 2347331-2347337, 2347343, 2347364, 2347382-2347385, 2347393-2347407, 2347410-2347438, 2347442, 2347782, 2347895, 2347898, 2348390-2348403, 2348526-2348541, 2349404-2349409, 2349450, 2349454-2349465, 2349468, 2349494-2349510, 2350013-2350030, 2354090-2354091, 2354099, 2358609-2358612, 2367737-2367765, 2369689-2369696, 2369789-2369800, 2374503-2374510
209MEFV160.9569479965899410123463293369, 3293462-3293463, 3293607-3293634, 3296544, 3297058, 3299489-3299497, 3304455, 3304495, 3304498-3304501, 3304599-3304617, 3306340-3306373
210SLX4160.990190735694825455053632574-3632582, 3639263, 3639267, 3639276, 3639361, 3639455-3639456, 3639767, 3639849, 3639919, 3641278, 3642834, 3642848-3642853, 3646283, 3646286, 3647474, 3647852, 3647896-3647919
211CREBBP160.9751671442215918273293778156-3778164, 3778297-3778298, 3778388, 3778404, 3778440-3778442, 3778446-3778458, 3778462-3778464, 3778796-3778813, 3778897-3778934, 3779020-3779026, 3779031, 3779071-3779079, 3779132-3779161, 3779208-3779210, 3779254, 3779415, 3779458-3779469, 3929833-3929852, 3929893-3929902
212GLIS2160.32126984126984106915754382282-4382295, 4382316-4382340, 4382390, 4382453, 4383348-4383371, 4383424-4383430, 4383434-4383437, 4383452-4383460, 4383470-4383475, 4383487-4383491, 4383498, 4383503-4383513, 4383518-4383520, 4384802-4384817, 4384834-4384868, 4384889-4384892, 4384898-4384914, 4384941, 4384957, 4384960-4384971, 4384976-4384977, 4385061-4385067, 4385087, 4385099, 4385102-4385110, 4385121-4385126, 4385134-4385147, 4385159-4385160, 4385163-4385177, 4385190, 4385276-4385286, 4385299-4385301, 4385308-4385371, 4385382-4385394, 4386726-4386754, 4386789, 4386794-4386842, 4386847-4386848, 4386852, 4386860, 4386863, 4386873-4386948, 4386963-4387525
213ALG1160.9182795698924711413955128853-5128860, 5130949-5131009, 5131019-5131023, 5131036, 5131040, 5131043-5131044, 5131049, 5134774, 5134813-5134846
214ABCC6160.771498226950351031451216253339-16253342, 16253345-16253356, 16253393-16253401, 16255295-16255321, 16255356-16255362, 16255373, 16255379-16255384, 16255404-16255408, 16256850-16256907, 16256932, 16256980-16256988, 16256992-16257018, 16257029, 16259480-16259650, 16259750-16259772, 16259790, 16263503-16263528, 16263536-16263558, 16263576-16263710, 16267141-16267225, 16267229-16267230, 16267251-16267261, 16269768-16269789, 16269798-16269843, 16271314-16271348, 16271357, 16271372-16271439, 16271452-16271456, 16271459-16271483, 16272669-16272710, 16272766-16272782, 16276278, 16276290-16276304, 16276344-16276360, 16276671, 16276717, 16276737, 16278816-16278832, 16278869-16278890, 16282795-16282801, 16292008-16292016, 16302586, 16313411-16313415, 16315631-16315658, 16317290
215UMOD160.996879875195016192320359861-20359863, 20359874-20359875, 20360220
216OTOA160.999122807017543342021696618-21696620
217CLN3160.995444191343966131728497676-28497677, 28497686-28497689
218TUFM160.9736842105263236136828857274-28857276, 28857283, 28857415-28857419, 28857425-28857427, 28857544, 28857547-28857548, 28857551-28857569, 28857574-28857575
219ATP2A1160.9870259481037939300628898988-28899014, 28900267-28900274, 28915521-28915524
220PHKG2160.9811629811629823122130760148-30760152, 30760156-30760158, 30760163, 30760209, 30760235, 30764728, 30764731, 30764738-30764740, 30764789, 30768340, 30768347-30768350, 30768371
221FUS160.9930423782416211158131193966, 31195291, 31195679-31195685, 31196440-31196441
222SLC5A2160.985141158989630201931495998, 31500021-31500025, 31500049, 31500052-31500071, 31500474-31500476
223SALL1160.999245283018873397551175656-51175658
224RPGRIP1L160.9946808510638321394853672291-53672294, 53672307-53672323
225SLC12A3160.9903006789524730309356904023-56904024, 56912062-56912073, 56920921-56920922, 56921860-56921867, 56921900, 56921926-56921930
226COQ9160.9926854754441795757481470-57481476
227CNGB1160.999467518636852375657993947, 58001047
228TK2160.971861471861472692466583901-66583903, 66583912, 66583928-66583932, 66583937, 66583974-66583976, 66583979-66583988, 66584020-66584021, 66584036
229HSD11B2160.80459770114943238121867465152-67465348, 67465356-67465377, 67465395, 67465405, 67465414-67465416, 67469964, 67470891-67470892, 67470896-67470906
230LCAT160.80876795162509253132367973876-67973879, 67973920-67973973, 67974013-67974046, 67974164-67974178, 67974211-67974217, 67976400, 67976445-67976488, 67976608-67976612, 67976773-67976785, 67976873-67976879, 67976959-67976993, 67977012-67977013, 67977110-67977115, 67977906-67977923, 67977976-67977983
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301GAA170.92514865337531214285978078423-78078429, 78078538-78078540, 78078559-78078560, 78078569-78078574, 78078661-78078663, 78078707-78078734, 78078906, 78079650-78079656, 78081401, 78081511-78081521, 78081631-78081637, 78082097, 78082100-78082105, 78082162-78082179, 78082207-78082208, 78082357-78082362, 78082371, 78083752-78083765, 78084769, 78086392-78086399, 78086421, 78086453-78086464, 78086675, 78087051, 78091403-78091415, 78091448-78091491, 78092533-78092541
302SGSH170.52153744201458722150978184318-78184344, 78184349-78184352, 78184372, 78184392-78184393, 78184401-78184405, 78184435, 78184457-78184505, 78184557-78184564, 78184598-78184627, 78184637-78184677, 78184690, 78184704-78184754, 78184781-78184782, 78184809-78184810, 78185870-78185886, 78185941, 78185953-78185990, 78186002-78186030, 78186039-78186043, 78186045, 78186048-78186065, 78187606-78187631, 78187667-78187672, 78187974-78187978, 78187981-78187983, 78187991-78188037, 78188069-78188088, 78188432-78188448, 78188451, 78188473-78188503, 78188546-78188564, 78188832-78188838, 78188847-78188878, 78188901-78188914, 78190831-78190865, 78190872-78190921, 78190945-78190982, 78194043-78194080
303ACTG1170.82358156028369199112879477716-79477734, 79477979-79477983, 79477985-79478010, 79478021-79478023, 79478037-79478041, 79478276-79478327, 79478496-79478499, 79478504-79478509, 79478512, 79478580-79478612, 79478644-79478651, 79478937-79478941, 79479258-79479274, 79479347-79479361
304FSCN21701479147979495558-79496383, 79502078-79502234, 79503172-79503293, 79503648-79503815, 79503901-79504106
305AFG3L2180.9791144527986650239412370849, 12376973-12376976, 12377032-12377068, 12377074-12377081
306MC2R180.99888143176734189413885142
307NPC1180.9947875944748520383721166266-21166274, 21166297-21166307
308LAMA3180.99880023995201121000221269688-21269694, 21269702, 21269715-21269718
309MYO5B180.9981972237245410554747428968-47428974, 47429034-47429036
310FECH180.999224806201551129055253803
311CCBE1180.9582309582309651122157134049-57134053, 57134067-57134111, 57364545
312TNFRSF11A180.9654240950837464185159992587, 59992589-59992651
313CTDP1180.8998613998614289288677439948-77440119, 77440131-77440196, 77440228, 77440232, 77440236, 77440243-77440256, 77496468, 77496472, 77496475-77496483, 77496501-77496521, 77513720-77513721
314ELANE190.10820895522388717804852329-852369, 852387-852395, 852876-852970, 852984, 852993-853032, 853262-853403, 855564-855621, 855635-855669, 855692-855787, 855958-856155, 856163-856164
315KISS1R190.684210526315793781197917520-917548, 917578-917589, 917600-917663, 917730-917733, 918545-918551, 918554-918555, 918558-918566, 918575-918595, 918606-918607, 918627-918632, 918635, 918644-918668, 919524, 919527-919529, 919624-919625, 919927-919930, 919933-919971, 920062-920106, 920290-920343, 920353-920357, 920362-920369, 920377, 920381, 920386, 920440-920446, 920578-920579, 920686-920707, 920748
316STK11190.19431643625192104913021206913, 1206949, 1206954-1206965, 1206987, 1206990, 1206993, 1207017, 1207022-1207056, 1207062-1207075, 1207183-1207199, 1218416-1218437, 1218465-1218499, 1219323-1219386, 1219397-1219412, 1220372-1220504, 1220580-1220716, 1221212-1221339, 1221948-1222005, 1222984-1223007, 1223018-1223171, 1226453-1226646
317NDUFS7190.819314641744551166421383926-1383941, 1387822, 1388576, 1388905-1388906, 1388937, 1390917-1390922, 1391003-1391012, 1391123-1391124, 1391130, 1391133-1391136, 1393256-1393258, 1393265, 1395403-1395446, 1395464-1395487
318GAMT190.660493827160492758101398697-1398744, 1398799, 1398804-1398810, 1398814, 1398846-1398859, 1398875-1398897, 1398926, 1398939-1398944, 1398969, 1398990-1399017, 1399157-1399159, 1399792-1399802, 1399868-1399896, 1399915-1399921, 1399934-1399937, 1401295-1401327, 1401379-1401403, 1401414-1401420, 1401427-1401441, 1401456-1401458, 1401462-1401469
319RAX2190.0468468468468475295553770619-3770735, 3770748-3770957, 3771525-3771561, 3771576-3771740
320MAP2K2190.7090606816292635012034090606, 4090611-4090614, 4090623-4090650, 4090666-4090706, 4094487-4094496, 4095386-4095387, 4095396, 4095412-4095419, 4095429, 4095445, 4097282-4097284, 4097301, 4097320-4097321, 4099199-4099231, 4099242-4099248, 4099267-4099295, 4099399-4099412, 4101131-4101141, 4110525, 4110556-4110558, 4117448-4117453, 4117499-4117525, 4117553, 4117559-4117581, 4123781-4123872
321NDUFA11190.89671361502347444265894863-5894865, 5903623-5903663
322TUBB4190.99700374531835413356502220-6502223
323C3190.991386217948724349926707094-6707099, 6707147-6707153, 6707280-6707284, 6709727-6709731, 6713504-6713511, 6714007, 6714051-6714053, 6714181-6714185, 6714188-6714190
324INSR190.989154013015184541497122727-7122728, 7152752-7152761, 7152805-7152810, 7152815, 7152818, 7152936-7152938, 7163043-7163047, 7163069-7163075, 7184498, 7184518, 7293835-7293841, 7293889
325MCOLN1190.986804360298342317437594508, 7595251-7595260, 7595308, 7598458-7598468
326PNPLA6190.9425200803212922939847600867-7600874, 7606911-7606925, 7607484-7607485, 7614798-7614816, 7615275-7615293, 7615407, 7615415-7615421, 7615472-7615519, 7615880-7615912, 7615920-7615977, 7615992, 7616248-7616255, 7616291-7616300
327STXBP2190.966329966329976017827702036-7702046, 7706955-7706998, 7707133-7707137
328ADAMTS10190.986714975845414433128649820-8649843, 8650509, 8654162-8654175, 8654436, 8669951-8669952, 8670016, 8670178
329TYK2190.82323232323232630356410463123-10463156, 10463182-10463188, 10463645-10463670, 10463705-10463725, 10463748-10463774, 10464204-10464233, 10464236-10464239, 10464307-10464322, 10464762-10464770, 10464831, 10465275, 10467251, 10467320-10467323, 10468463-10468466, 10468469-10468476, 10468479, 10468534-10468568, 10468690-10468694, 10468771, 10468774, 10468781-10468782, 10468810-10468814, 10469856, 10469869-10469892, 10469905-10469915, 10469963-10469969, 10475339-10475350, 10475377-10475384, 10475424, 10475433, 10475576, 10475585-10475601, 10475702-10475710, 10476214-10476242, 10476272, 10476276-10476281, 10476312-10476321, 10476350, 10476357-10476398, 10476424-10476425, 10476430-10476451, 10476477-10476489, 10488897-10488900, 10488904-10488965, 10488968, 10488975, 10488982-10489082
330DNM2190.9670876387294386261310870465, 10897351-10897352, 10912964-10912969, 10922948-10922987, 10923011-10923043, 10940865-10940867, 10941676
331LDLR190.79519938056523529258311213347, 11215949-11215952, 11215958, 11215963-11215969, 11215973, 11215979-11215986, 11215995-11216002, 11216156-11216165, 11216175-11216243, 11218078, 11218081, 11218108, 11218134-11218153, 11218181-11218186, 11221328, 11221387-11221435, 11222203-11222211, 11222226, 11222238, 11222252-11222287, 11223963-11224007, 11224029, 11224054-11224084, 11224087-11224092, 11224123-11224125, 11224226-11224308, 11224346-11224352, 11224398-11224426, 11226788-11226789, 11227600, 11230895, 11231197, 11233850-11233853, 11233941, 11233985-11233991, 11238703-11238734, 11240211-11240245, 11240329-11240332, 11241977
332LDLR190.940350877192981728511240329-11240332, 11241977, 11242044, 11242099-11242109
333PRKCSH190.9829867674858227158711547012-11547017, 11558341-11558346, 11558508-11558522
334MAN2B1190.95388669301713140303612758048, 12758331-12758334, 12759072, 12767831-12767853, 12767863, 12768270-12768319, 12768340, 12768343-12768369, 12769050-12769056, 12769083-12769088, 12769130-12769134, 12769266-12769267, 12769289-12769297, 12769322-12769324
335CACNA1A190.90453397154634718752113318150-13318181, 13318204, 13318212-13318231, 13318235-13318238, 13318264-13318266, 13318272-13318332, 13318345-13318414, 13318427-13318453, 13318474-13318559, 13318566-13318716, 13318730-13318735, 13318755-13318807, 13318830-13318867, 13319605-13319643, 13319692-13319697, 13320258, 13409478-13409486, 13409574-13409602, 13409605-13409606, 13409847-13409851, 13409882-13409899, 13616941-13616987, 13617012-13617018, 13617022, 13617027-13617028
336NOTCH3190.8946310651737734696615271977, 15272172, 15272202, 15272206-15272209, 15272212, 15281344, 15284987, 15285024, 15285049-15285077, 15285163, 15288369-15288400, 15288510-15288513, 15288540-15288541, 15288546, 15288618-15288659, 15288792-15288816, 15288900, 15291839, 15291868-15291894, 15291933, 15299914-15299948, 15299971-15299982, 15300100, 15300175-15300179, 15300218, 15302242-15302285, 15302300-15302399, 15302461-15302462, 15302556-15302587, 15302638-15302655, 15302673-15302674, 15302677, 15302771-15302796, 15302836, 15302844, 15302850, 15302853-15302855, 15302868, 15302880-15302907, 15302910-15302914, 15302919, 15302954-15302955, 15302975, 15302992-15303013, 15303017-15303020, 15303035-15303041, 15303047-15303049, 15303063-15303109, 15303188-15303195, 15303271-15303277, 15303295-15303305, 15303311-15303313, 15303321-15303324, 15308360-15308361, 15311601-15311716
337JAK3190.93748148148148211337517940917-17940918, 17940954-17940964, 17940992-17940997, 17941378-17941384, 17941393, 17942144-17942153, 17950351-17950352, 17950368-17950371, 17952569-17952571, 17953159-17953177, 17953187-17953222, 17953249, 17953252-17953256, 17953300-17953305, 17953315-17953316, 17953343-17953349, 17953836-17953851, 17953883-17953914, 17953964-17953979, 17954205-17954220, 17954602-17954607, 17954632, 17954708-17954709
338SLC5A5190.91459627329193165193217983129-17983139, 17983171-17983186, 17983211-17983224, 17983272-17983277, 17983298, 17983308-17983310, 17983315, 17983327-17983362, 17984965-17984982, 17985306-17985309, 17985473-17985485, 17985504, 17985511-17985512, 17985537-17985540, 17993010, 17993022, 17994530, 17994534-17994535, 17999140-17999158, 17999244-17999254
339IL12RB1190.9582704876822583198918188326, 18188335, 18188351, 18188393-18188402, 18191749, 18191760-18191785, 18197570-18197611, 18197627
340COMP190.58135444151275952227418893747-18893771, 18893896-18893897, 18893905-18893912, 18893991-18893994, 18895091, 18895105-18895113, 18895740-18895741, 18895744, 18896486-18896501, 18896517-18896580, 18896619-18896661, 18896775-18896781, 18896802-18896810, 18896826, 18896833-18896839, 18896849, 18896858, 18898305-18898347, 18898406-18898415, 18899021-18899096, 18899111, 18899123-18899126, 18899219-18899292, 18899310, 18899401-18899461, 18899471-18899536, 18899544-18899552, 18899648-18899679, 18899983-18900088, 18900755-18900794, 18900826-18900923, 18901659-18901706, 18901712-18901714, 18901723-18901730, 18901732-18901744, 18902000-18902030, 18902052-18902078
341CEBPA190.33983286908078711107733792244-33792245, 33792266-33792268, 33792388-33792394, 33792429-33792430, 33792437-33792455, 33792476-33792483, 33792509-33792535, 33792570-33792587, 33792596-33792632, 33792678-33792709, 33792721-33792918, 33792926-33792936, 33792942-33792986, 33792994-33793237, 33793243-33793250, 33793271-33793320
342SCN1B190.962825278810413080735521725-35521754
343MAG190.84848484848485285188135786561, 35786564, 35786781-35786800, 35790473-35790525, 35790540-35790547, 35790587-35790601, 35790623-35790673, 35790733-35790753, 35791050, 35791074-35791111, 35791132-35791163, 35791204-35791206, 35791213-35791238, 35791260, 35793404, 35793410-35793417, 35793506-35793509, 35793575
344PRODH2190.99193047796413161136303303-36303306, 36303319-36303322, 36303332-36303336
345TYROBP190.755162241887918333936398130-36398150, 36398348-36398349, 36398353, 36398369, 36398387-36398433, 36398472-36398482
346SDHAF1190.738505747126449134836486191-36486218, 36486228-36486244, 36486249, 36486256-36486258, 36486261-36486272, 36486344-36486370, 36486411, 36486426, 36486513
347WDR62190.96325459317585168457236549718, 36557276-36557283, 36577614, 36579997-36580006, 36580093, 36580195-36580197, 36591698-36591703, 36592569-36592570, 36592999, 36593005-36593006, 36593047-36593053, 36594108-36594109, 36594446-36594453, 36594492-36594508, 36594605, 36594643, 36595420-36595426, 36595689-36595696, 36595742-36595751, 36595816-36595835, 36595863-36595886, 36595903-36595930
348RYR1190.954091420255346941511738931398-38931400, 38931443, 38931470-38931478, 38931482-38931503, 38976655-38976660, 38976663, 38983250-38983256, 38985090-38985093, 38987077-38987088, 38987098-38987127, 38987500-38987533, 38987560, 38987573-38987590, 38989751, 38990322, 38991280, 38991543, 38993251, 38993547, 38998425, 39003112, 39003115-39003119, 39018398, 39037123, 39055602-39055610, 39055618-39055632, 39055712-39055974, 39055990-39056038, 39056056-39056077, 39056085, 39056091, 39056152-39056186, 39056195, 39056199, 39056216-39056232, 39056289-39056310, 39056320-39056322, 39056327, 39056333, 39056397-39056402, 39075594, 39075615-39075650, 39075692-39075736, 39076598, 39076602
349ACTN4190.86330409356725374273639138421-39138427, 39138506-39138513, 39214265-39214275, 39214598-39214610, 39214636, 39214797-39214807, 39214835, 39214840-39214867, 39214898-39214903, 39214957, 39215071-39215084, 39215109-39215148, 39215173-39215186, 39216373-39216379, 39216443-39216446, 39216505-39216524, 39217621-39217637, 39218644-39218658, 39219636-39219644, 39219684-39219687, 39219704, 39219710-39219741, 39219756-39219770, 39219780, 39219925, 39219936-39219948, 39219965-39220012, 39220033-39220064
350DLL3190.95853527194477185739993468, 39993501-39993505, 39993534-39993580, 39993603, 39993611, 39993637, 39994812, 39994873-39994881, 39997713-39997714, 39997718, 39997743-39997744, 39997871, 39998026, 39998038, 39998129-39998131
351PRX190.9815321477428281438640903431, 40909635-40909637, 40909645, 40909687-40909699, 40909707-40909769
352TGFB1190.84825234441603178117341837067-41837071, 41837114-41837115, 41838164-41838166, 41850744-41850745, 41854230-41854265, 41854295-41854309, 41854344-41854351, 41858620-41858633, 41858699-41858704, 41858767, 41858864-41858949
353BCKDHA190.9738415545590435133841916566, 41928121-41928131, 41928649-41928657, 41928972, 41929038-41929044, 41930438-41930443
354RPS19190.858447488584476243842364856-42364885, 42365248-42365279
355ATP1A3190.97036432843937109367842470747-42470748, 42470751-42470768, 42470771, 42470884-42470908, 42471008-42471015, 42471019-42471021, 42471030-42471031, 42471056-42471063, 42471332-42471365, 42480604-42480608, 42480617-42480619
356ETHE1190.986928104575161076544012097-44012104, 44012153, 44015683
357BCAM190.9533651298357288188745312395-45312449, 45315426-45315429, 45315434, 45324031, 45324039-45324051, 45324066-45324079
358BLOC1S3190.924466338259444660945682801-45682809, 45682884-45682885, 45682932, 45682971-45682972, 45682976, 45683037-45683067
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360OPA3190.99447513812155354346032411-46032413
361SIX5190.82162162162162396222046268841-46268888, 46268924-46268949, 46268978-46268980, 46269022-46269023, 46269092-46269094, 46269105, 46269110, 46269169-46269176, 46269182, 46269185-46269188, 46269202-46269210, 46269313, 46269727-46269734, 46269741-46269746, 46269945-46269951, 46269981-46269998, 46270147, 46270162-46270181, 46270315-46270318, 46270334-46270336, 46270410-46270413, 46271322-46271324, 46271400-46271409, 46271573-46271616, 46271680-46271698, 46271752-46271779, 46271818-46271872, 46271893-46271916, 46271942, 46271947-46271959, 46271966, 46272027-46272031, 46272045, 46272054, 46272058-46272061, 46272070, 46272073-46272080
362DMPK190.94708994708995100189046273798-46273824, 46273844-46273850, 46274258-46274269, 46274301-46274317, 46281790-46281793, 46281860-46281862, 46285491-46285497, 46285507, 46285542-46285546, 46285578-46285594
363FKRP190.67741935483871480148847258714-47258718, 47258729, 47258785, 47258846-47258847, 47258992-47258993, 47259007-47259008, 47259015, 47259050-47259056, 47259064-47259065, 47259071-47259072, 47259076, 47259083-47259111, 47259123-47259164, 47259180-47259189, 47259197-47259200, 47259222-47259242, 47259254-47259257, 47259261, 47259269-47259285, 47259301, 47259308-47259323, 47259345-47259351, 47259382-47259452, 47259460-47259468, 47259478-47259531, 47259546-47259552, 47259614-47259659, 47259692-47259763, 47259793, 47259832-47259833, 47259861, 47259880, 47259994, 47260039, 47260047, 47260077-47260092, 47260125-47260143
364DBP190.460122699386552897849134111-49134112, 49134117-49134122, 49134139, 49134143, 49134179-49134206, 49134229, 49134266, 49136816, 49136819, 49136861, 49136898-49136902, 49136910-49136911, 49138837-49138902, 49138910-49139247, 49140146-49140219
365BCAT2190.9898218829516512117949303061-49303064, 49303473-49303480
366FTL190.93753352849468839-49468866, 49469029, 49469032, 49469087, 49469112, 49469870
367GYS1190.91192411924119195221449473863-49473889, 49477486, 49477543, 49485528, 49485981, 49494559-49494597, 49494614-49494625, 49494659-49494678, 49494706-49494740, 49496254-49496262, 49496283-49496329, 49496344-49496345
368MED25190.95409982174688103224450321613-50321640, 50321829, 50321861, 50332331-50332332, 50333144, 50333147-50333148, 50333439, 50333443, 50333779-50333783, 50333855, 50333954-50333957, 50334090, 50334096, 50334114-50334115, 50335409-50335413, 50338412-50338434, 50338805-50338813, 50338838-50338844, 50339488-50339493, 50339531, 50340131
369PNKP190.994252873563229156650364902-50364905, 50370413-50370414, 50370426-50370428
370MYH14190.96514482081492213611150726570, 50728857-50728905, 50747519, 50753909-50753919, 50760735-50760738, 50762407-50762408, 50762414, 50762418, 50762427-50762443, 50764743-50764764, 50764780-50764817, 50764862-50764892, 50770208-50770225, 50789912-50789928
371KCNC3190.73614775725594600227450823503-50823540, 50823556-50823590, 50826253-50826255, 50826330-50826331, 50826334-50826357, 50826368-50826395, 50826422-50826425, 50827170, 50831538-50831556, 50831664-50831814, 50831887-50831897, 50831941-50831992, 50832015-50832051, 50832084-50832111, 50832144-50832159, 50832163-50832164, 50832169, 50832173-50832320
372KLK4190.98823529411765976551412646-51412647, 51412653-51412654, 51412658-51412662
373ETFB190.9884726224783912104151857415-51857426
374NLRP12190.96170747018205122318654301658-54301667, 54304500, 54304517, 54304520, 54304573-54304577, 54304589, 54312841-54312856, 54312881-54312890, 54313006-54313007, 54313087-54313094, 54313439, 54313499-54313503, 54313587-54313594, 54313597, 54313616-54313650, 54313661-54313663, 54313924-54313931, 54314387-54314389, 54314392-54314394
375PRKCG190.94173829990449122209454392969-54392971, 54392975, 54392987-54392992, 54393239-54393241, 54401324, 54401708-54401709, 54401785, 54401791, 54401839-54401878, 54409571-54409576, 54409629-54409632, 54409961-54409975, 54410079-54410117
376PRPF31190.36466666666667953150054621664-54621712, 54621740-54621743, 54621753-54621754, 54621757-54621764, 54621771, 54621831-54621835, 54625239-54625264, 54625294-54625321, 54625876-54625893, 54625899-54625973, 54626833-54626836, 54626854-54626885, 54626907, 54626933-54626939, 54627128-54627167, 54627173-54627200, 54627884-54627904, 54627927-54627999, 54628021-54628035, 54629903-54629939, 54629950-54629954, 54629963-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632528, 54632552-54632554, 54632647-54632745, 54634742, 54634745, 54634751, 54634811-54634823, 54634836-54634863
377TSEN34190.9957127545552493354695277-54695279, 54695363
378TNNT1190.8567807351077311378955644283-55644295, 55644317-55644322, 55644325, 55645271-55645273, 55645287-55645289, 55645474-55645479, 55645507-55645512, 55648557, 55649351, 55652252, 55652257-55652260, 55652277-55652289, 55652299-55652311, 55652316-55652325, 55652660-55652670, 55658049-55658069
379TNNI3190.973727422003281660955665416, 55665563-55665564, 55665567, 55666146-55666153, 55667688-55667691
380TPO20.7648108493932965928021480882-1480900, 1480903, 1480912-1480916, 1480921, 1480969-1480979, 1480982-1480990, 1480993, 1481013-1481015, 1481025-1481065, 1481081-1481112, 1481116-1481119, 1481145-1481175, 1481202-1481220, 1481226, 1481255-1481348, 1481375-1481376, 1488392, 1488399, 1488406, 1488426-1488432, 1488520-1488523, 1488561-1488626, 1491680-1491696, 1497625-1497652, 1497742, 1497770-1497775, 1499906, 1499919-1499949, 1500368-1500370, 1520655-1520722, 1520726-1520754, 1544366-1544446, 1544456-1544495
381KLF1120.9818063677712828153910183844-10183851, 10183866-10183885
382LPIN120.999625888514781267311911805
383MYCN20.9605734767025155139516082301-16082311, 16082442-16082448, 16082629-16082634, 16082825, 16082828-16082852, 16082906-16082910
384APOB20.99773590417762311369221266753-21266783
385POMC20.962686567164183080425384178-25384183, 25384325-25384330, 25384418-25384432, 25384456-25384458
386OTOF20.738405071738411568599426686868, 26686873-26686876, 26689994-26690017, 26690264, 26690309-26690313, 26693489, 26693554-26693556, 26693563-26693579, 26693582, 26695387-26695414, 26695417, 26695451-26695515, 26696008, 26696029, 26696032, 26696143-26696146, 26696154-26696162, 26696291-26696292, 26696314-26696317, 26696383-26696411, 26696422-26696424, 26696429, 26696875-26696937, 26696955-26696972, 26696978, 26697381-26697486, 26697502-26697542, 26698240-26698265, 26698338-26698346, 26698798-26698808, 26698838-26698895, 26698996-26699050, 26699060-26699071, 26699093-26699185, 26699759-26699911, 26700040-26700086, 26700101-26700107, 26700111, 26700126-26700156, 26700284-26700327, 26700348-26700374, 26700517-26700546, 26700555-26700561, 26700567-26700617, 26702132-26702196, 26702230-26702252, 26702344, 26702349, 26702379-26702381, 26702417-26702497, 26703071-26703077, 26703096-26703132, 26703139-26703179, 26703684-26703698, 26703723-26703739, 26703745, 26703755, 26703793-26703814, 26703834-26703845, 26705274-26705287, 26705310-26705323, 26705339-26705391, 26705428, 26705440-26705460, 26706330, 26706397-26706401, 26707354-26707362, 26707449-26707465, 26712079-26712086, 26712565
387ALK20.999588731235862486330143412-30143413
388SPAST20.977309562398742185132289033-32289036, 32289092-32289095, 32289214-32289240, 32340795-32340801
389CYP1B120.78921568627451344163238301513, 38301590, 38301595, 38301618-38301622, 38301767-38301768, 38301852-38301855, 38301909-38301950, 38301974-38302039, 38302046-38302049, 38302109-38302115, 38302126-38302127, 38302130-38302133, 38302145, 38302159-38302172, 38302174-38302176, 38302184, 38302188-38302237, 38302257-38302281, 38302288-38302349, 38302361, 38302364, 38302368, 38302371, 38302381-38302382, 38302411, 38302416, 38302419, 38302422-38302429, 38302440-38302441, 38302456-38302485
390SOS120.999750124937531400239285898
391ABCG520.995398773006139195644058916-44058924
392ABCG820.89070227497527221202244079739-44079748, 44079984-44079989, 44099121-44099132, 44099146, 44099173-44099175, 44099197, 44099223-44099242, 44099366-44099400, 44099419-44099445, 44100937-44100942, 44100969, 44101006-44101037, 44101074-44101084, 44101595, 44102316-44102338, 44102342-44102366, 44102394-44102397, 44102467-44102469
393LRPPRC20.9952210274790920418544222992, 44223068-44223086
394EPCAM20.968253968253973094547596679-47596708
395MSH220.996791443850279280547630364-47630372
396MSH620.97354886113152108408348010405, 48010422-48010426, 48010442-48010479, 48010485-48010511, 48010574, 48010578-48010583, 48010603-48010632
397LHCGR20.9938095238095213210048982759-48982771
398NRXN120.999774011299431442551254923
399EFEMP120.998650472334682148256144991-56144992
400ATP6V1B120.999351491569391154271163085
401DYSF20.9933962264150942636071829906-71829910, 71839900-71839920, 71840535-71840540, 71847682-71847691
402SPR20.964376590330792878673114701-73114716, 73114787-73114794, 73114799, 73114807, 73114819, 73114852
403ALMS120.9999200255918111250473679583
404MOGS20.95147175815434122251474688994-74689021, 74689267-74689276, 74689480-74689483, 74689857-74689858, 74691736, 74692100-74692109, 74692258-74692306, 74692349-74692366
405GGCX20.9890206411945525227785788513-85788537
406REEP120.947194719471953260686564602-86564633
407EIF2AK320.9961205610265613335188926730-88926735, 88926777-88926783
408TMEM12720.983263598326361271796931082-96931093
409ZAP7020.99946236559141186098340606
410RANBP220.949354005167964909675109336126-109336134, 109345588-109345601, 109347852-109347859, 109352102, 109352130-109352146, 109357110-109357126, 109363251-109363254, 109367720-109367732, 109367751-109367775, 109368074-109368111, 109368430-109368450, 109371632-109371633, 109371656-109371662, 109371705-109371715, 109374949-109374973, 109378557, 109382787-109382793, 109383052-109383058, 109383084-109383121, 109383268-109383289, 109383315-109383340, 109383792-109383836, 109383968-109384013, 109384079-109384104, 109384466-109384511, 109384628-109384634, 109384682-109384688
411MERTK20.99466666666667163000112656325-112656331, 112687079-112687087
412GLI220.94854022264232454761121555017-121555020, 121555023, 121745825, 121745890-121745903, 121746090-121746094, 121746135-121746183, 121746220-121746223, 121746232, 121746236-121746241, 121746256-121746268, 121746282-121746285, 121746311-121746362, 121746368-121746390, 121746447-121746450, 121746454, 121746503-121746513, 121746599-121746614, 121746619, 121746791-121746803, 121747044, 121747155, 121747343-121747353, 121747460-121747461, 121748211-121748217
413BIN120.9977553310886641782127808454-127808455, 127864518-127864519
414PROC20.919191919191921121386128178875, 128178907, 128180647-128180651, 128180654, 128180657-128180664, 128180669-128180670, 128180697-128180743, 128180869-128180874, 128180917-128180920, 128180930, 128180947, 128184688, 128186114-128186122, 128186165-128186188, 128186497
415CFC120.6577380952381230672131279628, 131279681, 131280363-131280424, 131280433-131280477, 131280742-131280815, 131280835-131280841, 131285302-131285324, 131285349, 131285401-131285416
416NEB20.99849804746173019974152432786, 152432790, 152432824-152432851
417CACNB420.9955214331413971563152732977-152732983
418SCN1A20.9989994997498765997166859089, 166929939-166929943
419CHN120.99057971014493131380175869622-175869634
420HOXD1320.91085271317829921032176957619-176957623, 176957672-176957696, 176957707-176957754, 176957784, 176957798-176957801, 176957829-176957831, 176957964-176957967, 176957973, 176957978
421PRKRA20.9893842887473510942179315730-179315739
422TTN20.999910222647839100248179447729, 179501393, 179580250-179580256
423HSPD120.9994192799070811722198351838
424BMPR220.9987167147898643117203242272-203242273, 203384822-203384823
425NDUFS120.9958791208791292184207018378-207018385, 207018397
426ABCA1220.998972778633887788215854088-215854095
427WNT10A20.9992025518341311254219745809
428DES20.94338287331918801413220283221, 220283249-220283293, 220283442-220283447, 220283455, 220283528, 220283581, 220283701-220283725
429OBSL120.957828149710072405691220416292-220416299, 220417327-220417332, 220417335, 220417359-220417365, 220417409-220417419, 220417627-220417629, 220417657-220417675, 220435296-220435302, 220435391-220435402, 220435643-220435713, 220435738-220435775, 220435864-220435875, 220435902-220435928, 220435937-220435954
430COL4A320.99042489527229485013228029446-228029447, 228029464-228029466, 228157999-228158029, 228163423-228163429, 228163480, 228163483-228163486
431SLC19A320.99262240107311111491228563532-228563542
432CHRND20.98841698841699181554233390926-233390927, 233390951-233390966
433COL6A320.9997902244598329534238303491-238303492
434AGXT20.894826123833761241179241808284-241808295, 241808314, 241808328-241808362, 241808374-241808427, 241808628, 241810778-241810787, 241810847-241810850, 241816969, 241816973, 241816976, 241817492-241817495
435D2HGDH20.872286079182632001566242674803, 242674811, 242689635-242689664, 242689666-242689667, 242689671-242689677, 242689706-242689709, 242695264-242695267, 242695316-242695322, 242695368, 242695371-242695373, 242695425-242695429, 242707190-242707237, 242707248-242707269, 242707294-242707358
436AVP200.763636363636361174953063330-3063365, 3063384-3063418, 3063637-3063642, 3063645, 3063673, 3063680-3063707, 3063716-3063725
437PANK2200.988908347927611917133870100, 3870105-3870107, 3870111, 3870265-3870268, 3870271-3870280
438JAG1200.981132075471769365710653349-10653354, 10653359-10653363, 10653374-10653393, 10653469, 10653472-10653480, 10653519, 10653564-10653566, 10653616-10653630, 10654160-10654165, 10654176-10654178
439THBD200.984953703703726172823028705-23028706, 23029476, 23029492-23029498, 23029721-23029723, 23029896-23029908
440SNTA1200.83399209486166252151832000112-32000115, 32000401-32000410, 32000567, 32031117-32031127, 32031152-32031186, 32031204, 32031208-32031258, 32031269-32031352, 32031359-32031413
441GDF5200.994687915006648150634022401, 34022425, 34022428, 34025280-34025284
442HNF4A200.995087719298257142543052773-43052775, 43052780-43052783
443CTSA200.9933199732798910149744520238-44520247
444GNAS200.875338753387539273857415163-57415212, 57415237-57415240, 57415313-57415315, 57415320-57415331, 57415465-57415471, 57415664-57415667, 57415778, 57415889-57415899
445GNAS200.96403339755941112311457428443-57428448, 57429125-57429131, 57429207-57429216, 57429433-57429455, 57429650, 57429675-57429701, 57429756-57429757, 57430049, 57430054, 57430087-57430089, 57430139-57430147, 57430310-57430331
446COL9A3200.77469586374696463205561448417-61448494, 61448919-61448987, 61452533-61452566, 61453134, 61453162, 61453478-61453513, 61453984, 61455845-61455853, 61456320-61456373, 61457169-61457212, 61457576, 61457586-61457592, 61457595, 61457599, 61458151-61458152, 61459309, 61459318-61459320, 61459324-61459325, 61460275, 61460283, 61460290-61460292, 61461009, 61461749-61461765, 61461869-61461876, 61461898-61461920, 61461928-61461930, 61467649-61467666, 61468508, 61468534-61468575
447CHRNA4200.10881104033971679188461978095-61978215, 61981005-61981216, 61981225-61981390, 61981406-61981493, 61981510-61981540, 61981544-61981566, 61981577-61981799, 61981830-61981902, 61981931-61981960, 61981964-61982059, 61982085-61982086, 61982116-61982120, 61982124-61982134, 61982143-61982280, 61982287-61982330, 61982347-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
448KCNQ2200.367315769377631657261962037997-62038073, 62038081-62038144, 62038164-62038203, 62038209-62038217, 62038234-62038239, 62038244-62038258, 62038277-62038278, 62038283-62038287, 62038291-62038293, 62038298, 62038310-62038463, 62038470-62038549, 62038560-62038628, 62038657-62038725, 62039766-62039797, 62039808-62039828, 62039837, 62039843-62039844, 62039850-62039863, 62039888-62039889, 62044825-62044837, 62044860-62044899, 62044927-62044934, 62045465, 62045482, 62045499-62045505, 62046268-62046300, 62046312-62046327, 62046378-62046385, 62046392-62046428, 62050978, 62055545-62055559, 62059720-62059768, 62059785, 62065162, 62065185, 62065232-62065256, 62070026-62070049, 62070951-62070992, 62071026-62071061, 62073759, 62073763-62073773, 62073778-62073779, 62073802-62073820, 62073828, 62073844, 62076012-62076056, 62076064-62076108, 62076119-62076126, 62076136-62076156, 62076179-62076187, 62076591-62076597, 62076618-62076625, 62076644-62076687, 62076690-62076717, 62078100-62078185, 62103521-62103816
449SOX18200.0363636363636361113115562679519-62679619, 62679631-62679637, 62679644-62679804, 62679810-62679897, 62679904-62679981, 62679996-62680315, 62680512-62680869
450APP210.993514915693915231327542889-27542892, 27542902-27542912
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527DOK740.3762376237623894515153465103-3465156, 3465233-3465278, 3475159-3475166, 3475225, 3475230-3475233, 3475236-3475245, 3475249, 3475256, 3475299-3475313, 3475329, 3475348-3475356, 3475362-3475363, 3478085-3478103, 3478109-3478111, 3478120-3478174, 3478180-3478187, 3478194, 3478197-3478199, 3478201-3478203, 3478215, 3478229, 3478232-3478247, 3487273-3487315, 3487328, 3487337-3487345, 3487370, 3491484-3491504, 3494497-3494502, 3494512-3494551, 3494572, 3494575-3494577, 3494584, 3494596, 3494611-3494656, 3494680-3494816, 3494824-3494890, 3494904-3494937, 3494943-3495214
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529EVC240.99923605805959339275710136-5710138
530EVC40.977173548170536829795713112-5713133, 5713154-5713166, 5713187-5713213, 5800404-5800409
531WFS140.977927422371875926736279253-6279257, 6279335, 6279391, 6290790-6290813, 6293694-6293720, 6303686
532COQ240.9826839826839820115584205891-84205910
533DMP140.999330655957161149488584246
534PKD240.9700722394220887290788928898-88928905, 88928911-88928919, 88928937, 88928963-88929012, 88929083-88929100, 88929146
535MANBA40.9984848484848542640103611768-103611770, 103681920
536CISD240.9264705882352930408103808512-103808522, 103808569-103808587
537ANK240.99957891190837511874114257198-114257202
538MFSD840.99293513166346111557128842861, 128859984-128859993
539CTSO40.9544513457556944966156874946-156874989
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543SLC6A350.8609769189479325918631403201-1403204, 1406328-1406372, 1406378-1406383, 1409162-1409190, 1409209-1409225, 1409841-1409843, 1409897-1409943, 1414806-1414808, 1414839-1414844, 1414874-1414880, 1420812-1420817, 1421991-1422034, 1422064-1422084, 1422109-1422129
544SDHA50.96024464831804133271594526, 1594530-1594531, 1594538-1594547
545NDUFS650.832633751801532-1801564, 1801573-1801579, 1801618-1801640
546DNAH550.99790990990991291387513916479-13916481, 13916486-13916511
547FAM134B50.980589022757729149416616785-16616791, 16616816-16616834, 16616984, 16616989, 16617005
548NIPBL50.999524658348194841537022466, 37036481-37036482, 37036575
549ITGA250.999153976311343354652285309, 52285330, 52285333
550SMN250.974011299435032388569362946-69362961, 69372350-69372356
551SMN250.98192090395481688570238370-70238385
552MCCC250.982269503546130169270883294-70883304, 70883330-70883339, 70883363-70883371
553ARSB50.998127340823973160278280982-78280984
554RASA150.9901399491094131314486564539-86564547, 86670045-86670056, 86670063-86670072
555LMNB150.883588869960252051761126113201-126113204, 126113224-126113245, 126113249-126113255, 126113276-126113311, 126113325-126113326, 126113336-126113339, 126113358-126113403, 126113415-126113443, 126113457-126113503, 126113518-126113522, 126154798-126154800
556SLC22A550.97670250896057391674131705794-131705801, 131705858-131705882, 131706047-131706052
557MYOT50.98864395457582171497137221815-137221828, 137221875-137221877
558SIL150.98989898989899141386138282846-138282853, 138282888, 138282901, 138283038, 138283041, 138283104-138283105
559ADRB250.9991948470209311242148206473
560TCOF150.97887970615243924356149737315-149737322, 149737363-149737401, 149748369, 149748378, 149754665-149754667, 149755445, 149755823-149755829, 149758879-149758882, 149758953-149758956, 149767647-149767648, 149771712, 149776031-149776035, 149777995-149778010
561NIPAL450.98929336188437151401156887224-156887228, 156887233-156887240, 156887347-156887348
562MSX250.9266169154228959804174151706, 174151742-174151776, 174151854-174151860, 174151867-174151876, 174151903-174151907, 174151964
563F1250.955326460481126582176830311-176830336
564F1250.827380952380953191848176830311-176830336, 176830497-176830552, 176830583, 176830591-176830594, 176830874-176830900, 176830947-176831024, 176831033-176831081, 176831211-176831214, 176831304-176831344, 176831376, 176831500-176831505, 176831528-176831531, 176831821-176831823, 176831826, 176831832-176831834, 176832062-176832063, 176832067-176832068, 176832337-176832344, 176832986-176832988
565NHP250.9956709956712462177580557-177580558
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567SQSTM150.875283446712021651323179247937-179247972, 179247998-179248078, 179248087-179248088, 179248094-179248115, 179248130-179248141, 179250996-179251007
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570TUBB2B60.8968609865470913813383225025, 3225046-3225049, 3225230-3225255, 3225331-3225337, 3225428-3225473, 3225562, 3225602-3225634, 3227721-3227740
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572NHLRC160.9856902356902417118818122674-18122690
573ZFP5760.998758535071382161129640313, 29640320
574HLA-H60.954666666666673475029855846-29855878, 29855984
575TNXB60.9419388284085112192931976916, 31976926, 31977089, 31977092, 31977210, 31977377-31977394, 31977618, 31977632, 31977998, 31978498-31978517, 31978939-31978945, 31979434-31979435, 31979446-31979482, 31979517, 31979568-31979583, 31979621, 31979624, 31979636
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578HLA-DQA160.955729166666673476832609147, 32609969, 32609974, 32610387-32610406, 32610436, 32610492-32610498, 32610534-32610535, 32610538
579HLA-DQB160.902035623409677778632629124-32629173, 32629194, 32629199, 32629955, 32632575-32632584, 32632647-32632653, 32632770, 32632777, 32634300-32634302, 32634306, 32634373
580SYNGAP160.9821428571428672403233388042-33388108, 33411546-33411550
581FANCE60.9714463066418446161135420370-35420379, 35420395-35420420, 35420427-35420433, 35420477-35420479
582TULP160.9846531614487425162935473780-35473785, 35479574-35479577, 35479976-35479986, 35480438-35480440, 35480447
583MOCS160.78440607012036412191139883969, 39893429-39893589, 39895068-39895317
584PRPH260.992315081652268104142672149, 42672157-42672163
585PEX660.9935440027183119294342934389, 42934393, 42936141-42936147, 42936194-42936195, 42946710-42946717
586RSPH960.8483754512635412683143612836-43612877, 43612883-43612906, 43612923-43612948, 43612971-43613003, 43613062
587RUNX260.9840357598978325156645390478, 45390487-45390491, 45390495-45390505, 45390508-45390511, 45390520-45390523
588MUT60.9933422103861515225349409566-49409578, 49409581, 49409649
589RIMS160.999803110848591507972892079
590SLC17A560.988575268817217148874345122-74345132, 74363533-74363538
591OSTM160.96716417910448331005108395698-108395715, 108395723, 108395726-108395738, 108395744
592ENPP160.99532037437005132778132129190-132129195, 132129252-132129256, 132203557-132203558
593PEX760.9804526748971219972137143857-137143862, 137143899-137143900, 137143903-137143904, 137143915-137143923
594SYNE160.9999242252027226394152644745, 152690197
595PARK260.9985693848354821398161771173-161771174
596TBP60.88431372549021181020170870992-170871109
597LFNG70.2745614035087782711402559496-2559920, 2559927, 2564329-2564377, 2564867-2564868, 2564872, 2564895-2564916, 2564919, 2564930-2564952, 2565048-2565066, 2565092-2565116, 2565148-2565191, 2565326-2565404, 2565878, 2565898-2565934, 2565977-2565978, 2566009-2566014, 2566028, 2566480-2566544, 2566783-2566792, 2566795, 2566806-2566807, 2566816-2566819, 2566840-2566846
598PMS270.989185013518732825896013150-6013156, 6022492-6022498, 6026829-6026830, 6026840, 6026850, 6026878-6026881, 6026884, 6026892, 6026988, 6027111, 6029455-6029456
599TWIST170.7619047619047614560919156560-19156568, 19156662-19156665, 19156686, 19156706-19156708, 19156720-19156723, 19156759-19156769, 19156775-19156844, 19156854-19156876, 19156901-19156920
600DNAH1170.99926318891836101357221603867-21603868, 21630951-21630958
601HOXA1370.64181662382177418116727239082-27239084, 27239110-27239115, 27239166-27239173, 27239207-27239216, 27239254-27239284, 27239295-27239590, 27239602-27239665
602GLI370.9911448450347942474342005047-42005051, 42005220-42005221, 42005528-42005542, 42005585-42005598, 42005964, 42006025-42006029
603PGAM270.951443569553813776244104465, 44104512-44104515, 44104569, 44104772-44104776, 44104909-44104932, 44104980, 44105014
604GCK70.90935046395432127140144185224-44185229, 44186067-44186125, 44186177-44186198, 44186215-44186217, 44187296-44187298, 44191873-44191877, 44192020-44192024, 44192955-44192977, 44193028
605CCM270.71985018726592374133545039933-45039962, 45104113-45104116, 45109517-45109520, 45112334, 45113059-45113095, 45113112-45113157, 45113876-45113947, 45113958-45113999, 45115376-45115449, 45115452, 45115456-45115466, 45115564-45115569, 45115572, 45115589-45115623, 45115647-45115656
606EGFR70.9939443985686822363355086972-55086981, 55087029-55087040
607GUSB70.9688139059304761195665439557-65439559, 65439663-65439676, 65441171-65441177, 65444861, 65446977-65447002, 65447127-65447136
608ASL70.34623655913978912139565541071-65541077, 65546875, 65546885, 65546907-65546915, 65546918, 65547355-65547377, 65547387-65547411, 65547424-65547438, 65547867-65547902, 65547910-65547923, 65548064-65548086, 65548107-65548142, 65548153-65548159, 65551572-65551594, 65551620, 65551648-65551649, 65551731-65551753, 65552321-65552373, 65552726-65552763, 65552776, 65553794-65553797, 65553804-65553893, 65553903-65553908, 65554078-65554125, 65554133-65554162, 65554263-65554322, 65554599-65554641, 65554646-65554651, 65554656, 65554660-65554682, 65556998-65557050, 65557055, 65557544-65557591, 65557606-65557650, 65557755-65557777, 65557794-65557831, 65557839-65557885, 65557891-65557897
609KCTD770.873563218390811087066094052-66094053, 66094056, 66094065-66094090, 66094110-66094190
610NCF170.911515151515157382572639957-72639963, 72640021-72640045, 72643645, 72643703-72643710, 72645871, 72645884, 72645924-72645930, 72648680, 72648729-72648750
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680DBH90.674217907227626041854136501565-136501572, 136505018-136505039, 136508592-136508594, 136508676-136508690, 136508701-136508711, 136513044-136513061, 136513119-136513126, 136516756-136516899, 136517368-136517406, 136518066-136518077, 136521645-136521734, 136521748-136521749, 136521760-136521763, 136521767, 136522192-136522198, 136522209, 136522224-136522298, 136522317-136522351, 136523438-136523480, 136523485-136523495, 136523499-136523528, 136523531-136523532, 136523539-136523542, 136523546-136523564
681SARDH90.738121146173387222757136529011-136529075, 136529092-136529102, 136529115-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136550327-136550328, 136550337-136550340, 136555507-136555518, 136555571, 136559386-136559389, 136559397-136559416, 136559427, 136559438, 136559448, 136559452-136559453, 136568090-136568120, 136577765-136577778, 136578176, 136578191-136578229, 136578239-136578245, 136584127, 136599263-136599277
682COL5A190.7955410549211511285517137534034-137534136, 137534142, 137582758-137582816, 137582848-137582855, 137582873-137582925, 137591755-137591782, 137591799, 137591817-137591968, 137593017-137593053, 137593072-137593131, 137593151-137593179, 137623433, 137623467, 137630327, 137630623-137630654, 137642388-137642400, 137642413-137642414, 137642419-137642421, 137642460-137642462, 137642636-137642639, 137642653-137642671, 137642679-137642728, 137644449-137644452, 137644470-137644491, 137645700-137645740, 137645749, 137646119-137646140, 137646145-137646158, 137648624-137648634, 137650091-137650109, 137653772-137653776, 137653814, 137653818, 137655539-137655576, 137657529, 137659193-137659199, 137664663, 137666756, 137671948-137671955, 137671969-137671992, 137674520, 137674550-137674566, 137676880, 137676883, 137676887, 137676912-137676913, 137677841-137677849, 137677871-137677884, 137688235-137688236, 137693825-137693853, 137694775-137694803, 137694816-137694841, 137696869-137696870, 137697030-137697041, 137703395-137703398, 137703405, 137704495-137704497, 137705829-137705833, 137705870-137705882, 137707793, 137708872-137708922, 137710555, 137710559, 137710563, 137710694-137710708, 137710868, 137726817, 137726820, 137726980-137726981
683LHX390.606286186931354761209139089175-139089194, 139089214-139089247, 139089264, 139089287-139089310, 139089314-139089344, 139089350-139089381, 139089390-139089409, 139089460-139089478, 139089506-139089512, 139089539-139089562, 139089586, 139090502-139090512, 139090555, 139090568, 139090598-139090622, 139090650-139090656, 139090761-139090780, 139090786-139090820, 139090835-139090905, 139091663, 139091666-139091668, 139091684, 139091687-139091688, 139091725-139091726, 139094803-139094885
684INPP5E90.2253229974160214991935139324127-139324132, 139324729-139324763, 139324813-139324820, 139324847, 139324852, 139325454-139325466, 139325517-139325520, 139325542-139325569, 139326276-139326437, 139326931-139326960, 139326979-139326985, 139326990-139327009, 139327011, 139327016-139327038, 139327420-139327426, 139327463-139327527, 139327607-139327610, 139327632-139327650, 139327654-139327731, 139328489-139328568, 139328575-139328586, 139329192-139329308, 139333060-139333086, 139333092-139333094, 139333105-139333192, 139333203-139333241, 139333251-139333871
685NOTCH190.1160667709963567787668139390523-139390545, 139390554-139390660, 139390678-139390740, 139390762, 139390776-139391003, 139391024-139391030, 139391038-139391096, 139391112-139391438, 139391454-139391561, 139391576-139391949, 139391957-139392010, 139393351-139393369, 139393376-139393401, 139393407-139393432, 139393581-139393675, 139393693, 139393698-139393699, 139393708-139393711, 139395004-139395235, 139395243-139395299, 139396200-139396364, 139396453-139396472, 139396475-139396486, 139396496-139396540, 139396724-139396940, 139397634-139397680, 139397701-139397728, 139397736-139397748, 139399125-139399344, 139399351-139399369, 139399372-139399386, 139399405-139399523, 139399533-139399556, 139399762-139400034, 139400056-139400103, 139400119-139400139, 139400163-139400214, 139400240-139400241, 139400244-139400245, 139400253-139400300, 139400311-139400319, 139400322-139400333, 139400986-139401046, 139401056-139401091, 139401168-139401180, 139401195-139401204, 139401231-139401244, 139401281-139401299, 139401309-139401356, 139401400-139401425, 139401757-139401782, 139401798, 139401850-139401852, 139401859-139401864, 139401877-139401886, 139402407-139402418, 139402427, 139402449-139402461, 139402467-139402479, 139402488-139402591, 139402684-139402762, 139402784-139402837, 139403322-139403421, 139403434-139403523, 139404185-139404238, 139404252-139404340, 139404362-139404381, 139404406-139404413, 139405120-139405257, 139405604-139405649, 139405665, 139405672-139405723, 139407473-139407558, 139407564-139407586, 139407844-139407900, 139407919-139407989, 139408962-139409154, 139409743-139409829, 139409835-139409852, 139409935-139410030, 139410036-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438489, 139438501, 139438507-139438528, 139438539-139438554, 139440178-139440238
686AGPAT290.18757467144564680837139568213-139568379, 139569192, 139569196, 139569212-139569227, 139571040, 139571056-139571119, 139571413-139571440, 139571447-139571505, 139571515-139571579, 139571875-139571924, 139571936-139571981, 139581628-139581809
687SLC34A390.08777777777777816421800140126167-140126239, 140126524-140126529, 140126534-140126545, 140126552-140126555, 140126566-140126613, 140127027-140127155, 140127236-140127379, 140127456-140127536, 140127544-140127547, 140127552-140127567, 140127661-140127694, 140127703-140127747, 140127793-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129063, 140129070-140129093, 140129130-140129139, 140129160-140129183, 140130404-140130868
688EHMT190.831152168334626583897140513481-140513501, 140605440-140605444, 140605450-140605482, 140611078-140611634, 140622894, 140671254, 140707955, 140708902, 140708937-140708942, 140708952-140708953, 140728840-140728841, 140728844, 140729280, 140729298, 140729307-140729308, 140729319-140729340, 140729403
689SHOXX0.4584755403868476879591633-591909, 595353-595410, 595421-595561
690CSF2RAX0.2957854406130391913051401625, 1401638-1401672, 1404671-1404707, 1404710-1404714, 1404734-1404740, 1404763-1404810, 1407424-1407465, 1407478-1407480, 1407494, 1407652-1407653, 1407677-1407713, 1407733-1407748, 1407770-1407781, 1409230-1409246, 1409254-1409273, 1409293-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422881, 1422890-1422912, 1424351, 1424389-1424416, 1428301-1428304, 1428353-1428354
691KAL1X0.99804209495839420438699988, 8699993-8699994, 8700003
692PHKA2X0.9946062567421820370818911665, 18912325, 18912331-18912338, 18912342-18912345, 18912405-18912406, 18912435-18912436, 18912441-18912442
693RPS6KA3X0.999100314889792222320284690, 20284696
694SMSX0.991825613079029110121958943-21958950, 21958961
695ARXX0.92658377738307124168925031453-25031458, 25031537-25031582, 25031646-25031685, 25031710-25031724, 25031777-25031779, 25031892, 25031896-25031908
696DMDX0.999457406402661105832383228, 32408252-32408255, 32408259
697RPGRX0.674472390864411126345938144807-38144826, 38144876, 38144935-38144951, 38145017-38145033, 38145044-38145054, 38145060-38145090, 38145126, 38145158, 38145161-38145189, 38145192-38145200, 38145229-38145873, 38145883-38145906, 38145911, 38145930-38145941, 38145972-38146072, 38146090-38146096, 38146121-38146151, 38146181, 38146201-38146227, 38146284-38146319, 38146352-38146363, 38146366-38146373, 38146422-38146436, 38146470, 38146474-38146489, 38147114-38147127, 38147129, 38147142-38147165, 38147222, 38150240-38150243, 38150731-38150737, 38158233
698TSPAN7X0.996375038420800-38420801, 38420816
699NYXX0.48132780082988750144641332744-41332762, 41332778-41332808, 41332835-41332874, 41332890-41332925, 41332935-41332985, 41333042-41333079, 41333087-41333136, 41333151-41333183, 41333194-41333210, 41333233-41333252, 41333273-41333283, 41333308-41333469, 41333488-41333557, 41333591-41333594, 41333668-41333692, 41333695, 41333701-41333711, 41333721, 41333739-41333765, 41333817-41333841, 41333941-41333969, 41333977-41334006, 41334032-41334047, 41334062, 41334078, 41334143
700CASKX0.999276934201012276641412990, 41782234
701SYN1X0.999527856468371211847434105
702WASX0.996686547382375150948543991-48543995
703PQBP1X0.99874686716792179848758502
704CACNA1FX0.999831479609031593449063196
705FGD1X0.9899514899514929288654494253-54494264, 54497144-54497159, 54521792
706ARX0.998190372783215276366765159-66765163
707EDAX0.990646258503411117669247788, 69247793-69247802
708MED12X0.998622589531689653470360648-70360650, 70361098-70361103
709TAF1X0.97888067581837120568270586165-70586166, 70586180-70586263, 70586273, 70586284-70586296, 70586318-70586337
710SLC16A2X0.999457111834961184273641395
711BRWD3X0.998520983545948540980064940-80064947
712CUL4BX0.99051787016776262742119694346-119694371
713XIAPX0.96050870147256591494123019583-123019602, 123019743-123019744, 123019840, 123020076-123020089, 123025104-123025125
714OCRLX0.9981522542498252706128674422-128674426
715GPC3X0.9982788296041331743133119430, 133119435-133119436
716ZIC3X0.97008547008547421404136651128-136651169
717SOX3X0.96495152870992471341139586145-139586163, 139586478, 139586491, 139586497-139586500, 139586511-139586515, 139586690-139586700, 139586858-139586863
718FMR1X0.9984202211690431899146993698-146993700
719AFF2X0.997967479674883936147582618-147582625
720FAM58AX0.9510204081632736735152864472-152864480, 152864483-152864485, 152864492, 152864499-152864521
721SLC6A8X0.759433962264154591908152954030-152954056, 152954068-152954269, 152954277-152954291, 152955891-152955894, 152956885, 152958533-152958554, 152958629-152958630, 152959014, 152959384-152959403, 152959470-152959472, 152959599-152959600, 152959616, 152959646-152959670, 152959687-152959722, 152959850, 152959868, 152959988, 152960020, 152960067-152960088, 152960192-152960258, 152960663-152960667
722ABCD1X0.76273458445045312238152990738, 152990761, 152990768, 152990801-152990808, 152990846-152990916, 152990947-152991003, 152991054-152991059, 152991094-152991131, 152991154-152991192, 152991227-152991249, 152991252, 152991255-152991259, 152991310-152991311, 152991317-152991318, 152991331, 152991384-152991389, 152991421-152991460, 152991469-152991470, 152991488-152991490, 152991494-152991503, 152991513-152991551, 152991593, 153001566-153001584, 153001614, 153001680-153001683, 153001817, 153001820, 153001823, 153001883, 153001895-153001897, 153001913, 153001925-153001935, 153002611, 153002644-153002667, 153002683, 153005678-153005684, 153006076, 153008480-153008486, 153008675-153008678, 153008700-153008734, 153008944-153008946, 153008981-153008987, 153009044-153009046, 153009062, 153009079-153009108, 153009135, 153009152-153009153, 153009169-153009171, 153009181
723L1CAMX0.966083730789611283774153128935-153128939, 153130321-153130322, 153133531, 153135260-153135274, 153135283, 153135527-153135528, 153135533, 153135562-153135577, 153135627-153135634, 153135874-153135917, 153136568-153136570, 153136583-153136595, 153136603-153136608, 153141248-153141255, 153141258-153141260
724AVPR2X0.9991039426523311116153172083
725MECP2X0.96058784235137591497153296212-153296218, 153297875, 153363072-153363122
726OPN1LWX0.97534246575342271095153418456, 153418460, 153418520-153418544
727OPN1MWX0.97625570776256261095153455650-153455668, 153459072-153459078
728OPN1MWX0.96986301369863331095153492768-153492792, 153496121, 153496190-153496196
729FLNAX0.7995971802618315927944153577370, 153577392-153577404, 153577771-153577779, 153577819-153577837, 153577917, 153577924, 153578082, 153578185-153578191, 153578451-153578489, 153578510-153578539, 153579298-153579301, 153579334-153579380, 153579983-153579990, 153580048, 153580297, 153580625-153580630, 153580676-153580683, 153580933, 153580954, 153581036, 153581039-153581043, 153581247, 153581255-153581256, 153581369-153581398, 153581472-153581489, 153581499-153581519, 153581552-153581572, 153581683-153581686, 153581693-153581703, 153581706-153581714, 153581737-153581759, 153581780-153581806, 153581819-153581825, 153582067-153582077, 153582372-153582379, 153582547-153582574, 153582600, 153582760-153582766, 153582809, 153582851, 153582991-153583032, 153583054-153583079, 153583310-153583314, 153583338-153583344, 153583349-153583353, 153583418-153583427, 153585630-153585642, 153585802, 153585809-153585810, 153585871-153585904, 153585926-153585952, 153586574-153586613, 153586645-153586646, 153586667-153586708, 153586842-153586858, 153587415, 153587418, 153587426-153587427, 153587624-153587635, 153587666-153587677, 153587680-153587684, 153587692, 153587696-153587697, 153587700-153587702, 153587724, 153587727-153587741, 153587853-153587869, 153587913-153587944, 153587968-153587975, 153588003-153588014, 153588100-153588101, 153588165-153588170, 153588197-153588206, 153588253, 153588256-153588262, 153588358-153588362, 153588366-153588373, 153588395-153588420, 153588438-153588453, 153588465-153588489, 153588492, 153588518-153588523, 153588557-153588567, 153588584-153588607, 153588634-153588646, 153588679-153588746, 153588798-153588799, 153588853-153588872, 153588898-153588918, 153588946-153588955, 153589750, 153589763, 153589773, 153589776-153589777, 153589787-153589811, 153590128-153590139, 153590447-153590466, 153590623, 153590627, 153590639-153590641, 153590697-153590698, 153590786-153590812, 153590830, 153590937-153590945, 153591029-153591065, 153591076-153591077, 153592407-153592411, 153592415, 153592493-153592499, 153592659, 153592923, 153592941, 153592944, 153592947-153592952, 153592963, 153593618-153593625, 153593751, 153593779-153593784, 153594404, 153594421-153594427, 153594502-153594504, 153594517, 153594763-153594777, 153594827-153594832, 153594958, 153594975, 153595191-153595194, 153595828-153595829, 153596030-153596053, 153596061-153596086, 153596259-153596266, 153596362-153596363, 153599241-153599250, 153599301-153599312, 153599380-153599393, 153599411-153599471, 153599504-153599599
730EMDX0.79607843137255156765153607858-153607898, 153608064-153608090, 153608110-153608154, 153608613, 153608616, 153608688, 153609411-153609450
731TAZX0.73637515842839208789153640181-153640195, 153640204-153640207, 153640248-153640289, 153640423-153640452, 153640474-153640496, 153640507-153640551, 153641558-153641587, 153641824-153641833, 153641867-153641875
732G6PDX0.929792429792431151638153760231-153760243, 153760247, 153760285-153760305, 153760607, 153760614-153760630, 153760948, 153761253, 153762553-153762558, 153762618-153762619, 153762674-153762675, 153763420, 153763479-153763485, 153764178-153764201, 153775011-153775016, 153775028, 153775030-153775032, 153775074-153775081
733IKBKGX0.95901639344262601464153780265-153780280, 153780366-153780378, 153784526-153784532, 153788730-153788753
734IKBKGX0.997955010224951489153869811
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhomozygous0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
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
2WDR36-D33Ehet unknown0.006Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.068 (benign), Testable gene in GeneTests
2WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5LRP5-V667Mhet unknown0.041Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5LRP5-A1330Vhet unknown0.110Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5NTF4-A88Vhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1.5SFTPA1-R219Whet unknown0.085Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S487Nhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-P643Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1WNK1-A141Thomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1EGFR-R521Khomozygous0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1TSEN54-P483Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1MYO5B-L1055LLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-C10Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-G893Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SBF2-Q1216Ehomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1UMOD-V458Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1F5-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M2148Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D107Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FAM151A-G546Dhet unknown0.032Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.625 (possibly damaging)
1FAM151A-G526Ahet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLX4-G992EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
1BACH1-G471Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NCRNA00255-P39Shifthomozygous0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NCRNA00255-V100Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SCN4A-T1445Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.5ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CACNG1-G196Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEK2520LEREKAERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC1-G671Vhet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHX58-N461Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGFALS-S371Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGFALS-D90Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCRN2-M323Vhet unknown0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCRN2-E273Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GOSR2-P3Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CES1-A270Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-D204Ehet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CES1-S76Nhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UNC13A-L1121Phomozygous1.000Unknown
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
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MPHOSPH10-R115Hhet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5MPHOSPH10-R595Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DYSF-G129Ehet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-R412Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LENG1-E97Khet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-V417Mhomozygous0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPN1-H39Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPN1-G523Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
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
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D24019Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T8694Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R7402Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R328Chet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
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
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTPRS-P548Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PEX11G-L216Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PLIN5-R417*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PLIN5-R406Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLIN5-R306Whomozygous0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PLIN5-C255Rhomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK2-I2157Vhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-R1884Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.699 (possibly damaging)
0.5ALPK2-H1767Yhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ALPK2-Q1579Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.183 (benign)
0.5ALPK2-A1551Shet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5ALPK2-P1449Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5ALPK2-F1389Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-H1174Phet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5ALPK2-EDTST1006Delhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-N916Khet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K829Nhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5ALPK2-R825Thet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-G810Shet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ALPK2-H719Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.5ALPK2-R136Shet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K2Thet unknown0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF532-E761Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC105-S444Thomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5CCDC105-G458Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CCDC8-D326Ghet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.947 (probably damaging)
0.5TMEM160-G120Shomozygous0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
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
0.5ZNF781-T97Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LYPD4-T184Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5BCKDHA-P39Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CUBN-E2968Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5ARMC4-R787Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ARMC4-R666Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5OR13A1-Y269Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ECHDC3-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)
0.5NUP133-Q406Rhomozygous0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUP133-S399Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5NUP133-I294Vhomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IDI1-C13Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADSS-K226Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ARHGAP22-T410Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CHAT-A120Thomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UBQLNL-W379Ghomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBQLNL-R375Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5UBQLNL-Q305*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UBQLNL-A275Vhet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBQLNL-Y274Hhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5UBQLNL-C171Rhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5CD44-T393Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CD44-K417Rhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD44-I479Thomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNLIPRP3-S179Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PNLIPRP3-V381Ihomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNLIPRP3-R382Ghomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC29A3-R18Ghomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-G488Ahomozygous0.122Unknown
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-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SORCS1-N1155Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LEPRE1-M549Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG6-S306Fhomozygous0.738Unknown
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
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
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
0.5PRAMEF2-R33Shet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5CLCNKB-A214Ghet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhet unknown0.811Unknown
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
0.5CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPB41-V214Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-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
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-V3540Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-Q4437Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5ASPM-Q2620Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5PHLDA3-R28Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-D644Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPHS2-R229Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5PAPPA2-P1657Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGSF9-G34Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-S195Lhomozygous0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNFSF18-I190Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1668Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYCBP2-N2593Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SKA3-D335Ehet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5PLEKHG7-D99Ghet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHG7-M212Thomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5VEZT-V496Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging)
0.5VEZT-G762Dhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEP1-I2486Mhomozygous0.287Unknown
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-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-P96Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), 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-N1229Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCM-N1253Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-N1876Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX6-L205Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-S1040Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-N3130Shet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-N3982Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-R4041Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5NAV3-V20Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5NAV3-T45Ahomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAV3-S1071Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRT1-K633Rhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-A398Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM126B-A168Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BIRC2-A506Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.292 (possibly damaging)
0.5GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-R176Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM111B-Y132Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G2527Dhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLAT-E115Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5GRASP-L91Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.688 (possibly damaging)
0.5KRT6B-I365Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6C-V481Ihomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HYLS1-C31Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5GALNT8-Y53Dhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GALNT8-G245Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5GALNT8-V515Fhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5VWF-T1381Ahet unknown0.712Unknown
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-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LPIN1-P610Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCOF1-S620SADShet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-M1170Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-G1394Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GEMIN5-P1155Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GEMIN5-R682Qhet unknown0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5GEMIN5-R319Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HK3-G246Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH3TC2-V1158Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-I2329Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF20A-P839Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NSD1-A691Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NSD1-A1036Phet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2250Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2261Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-SKFGG75RRFSRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A107Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F179Lhet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.700Unknown
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-R87Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q85Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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-F41Yhomozygous0.782Unknown
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
0.5COL11A2-P1722Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC39A7-G124Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5F13A1-R697Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V35Lhomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFP57-R187Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCHCR1-R506Qhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-W78*het unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5NR_027706-G109Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LNPEP-V359Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5DSPP-P231Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DSPP-G268Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCG2-Q141Khet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTTP-I128Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-V168Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests
0.5MTTP-H297Qhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGPAT9-R386Khet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAM175A-D373Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.899 (probably damaging)
0.5ATP10D-T43Ihet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.143 (benign)
0.5ATP10D-N720Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2A3-A497Thomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.418 (possibly damaging)
0.5UGT2A3-F494Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CMYA5-Y64Chet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K166Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.683 (possibly damaging)
0.5CMYA5-D190Ghet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5CMYA5-G349Dhet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-G591Dhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-F594Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CMYA5-S651Rhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-V1006Ahet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.074 (benign)
0.5CMYA5-F1038Lhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.707 (possibly damaging)
0.5CMYA5-A1295Vhomozygous0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-I1309Vhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-A1333Vhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-A1567Ehet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CMYA5-S1599Ahet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.5CMYA5-I1713Nhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.819 (possibly damaging)
0.5CMYA5-I1721Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-A1875Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.143 (benign)
0.5CMYA5-D1917Ghet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-S1920Ghet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-V2262Lhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CMYA5-G2324Shet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5CMYA5-T2693Ihet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-R2708Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K2906Nhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-G2935Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CMYA5-H3358Qhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V3448Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-L669Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ARSB-V376Mhomozygous0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-I207Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.5MMAA-Q363Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-P443Lhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (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
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-N27Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RIMS2-S278Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL14A1-N563Hhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.5COL14A1-P855Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE7A-R430Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.861 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), 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
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-A1670Thomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TJP2-D482Ehet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP2-M668Ihet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-V767Lhet unknown0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), 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
0.5POMT1-V305Ihet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSD17B3-G289Shet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5CDK5RAP2-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
0.5MLL3-N942Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
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)
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-L1235Phet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (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-A6512Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S3346Yhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.874Unknown
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
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL19A1-E496Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RELN-V1762Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.813 (possibly damaging), Testable gene in GeneTests
0.5RELN-H191Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAMP3-W56Rhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A1-D480Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A1-R850Hhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC38-A12Vhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5TTC38-F243Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALG12-I393Vhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WFDC3-R63Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5MMP9-N261Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALG1L2-L157Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A6-A370Thomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.86 (probably damaging)
0.5COL6A6-R937Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5MYH9-I1626Vhomozygous0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
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
0.5IQCF2-R4Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5IQCF2-F157Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5TMPRSS15-P732Shomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMPRSS15-S308Fhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5TMPRSS15-E134Qhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5IQCF1-R114Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABHD10-I251Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSA-W193Chet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
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-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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-A1194Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.078 (benign), Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-S2191Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.707 (possibly damaging), 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
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RALGAPA2-E189Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SEC14L3-R364Chet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.305 (possibly damaging)
0.5SEC14L3-D335Ehet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R214Hhet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5ATR-V959Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATR-V316Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging)
0.5ATR-M211Thet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5TF-S635Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGXT-I340Mhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-A472Thet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.5COL6A3-T3069Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Q74Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLNK-P31Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SIGLEC1-A974Vhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5SIGLEC1-H919Phomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC1-L784Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SIGLEC1-R464Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIGLEC1-K239Rhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC1-V221Mhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.375SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.375SUMF1-L20Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLNB-R2010Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PDE6C-M694Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-DS1275G*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CPS1-G1376Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.375LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.375LEPR-S1007Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ABAT-S431Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.375SLC2A9-P350Lhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.375SLC2A9-D281Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SLC2A9-G25Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NLRP7-D639Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25PLCE1-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
0.25RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLIP2-K275Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CLIP2-R977Phomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLAU-L141Phomozygous0.842Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLAU-Q144Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB1-S400Nhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), 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
0.25LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25ACADSB-I316Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NACAD-D1253Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NACAD-V498Ahomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NACAD-D438Ehomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-T210Mhet unknown0.580Unknown
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
0.25USH1C-E819Dhet unknown0.517Unknown
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
0.25OTOF-P1646Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTBS-V274Ihomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.953 (probably damaging)
0.25CTBS-R10LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTBS-P4*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTCH1-P1315Lhomozygous0.296Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25PTCH1-P726Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LOR-S29Ghomozygous0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LOR-S69Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATRX-Q929Ehet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTR2C-C23Shet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UBA1-R447Hhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNTLN-E207Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CNTLN-T284Ahet unknown0.284Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CNTLN-T695Ihomozygous0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C20orf200-I121Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C20orf200-L112Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF831-T52Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF831-P838Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF831-S1513Phet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TUBB1-Q134*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TUBB1-R307Hhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A5-S251Nhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC4A5-R21Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
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-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.25DOCK8-N413Shomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM81-F100Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.25TMEM81-R77Qhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
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
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PALB2-Q559Rhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EARS2-K471Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EARS2-S457Ghet unknown0.853Unknown
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
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), 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
0.25DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AP3B1-V585Ehet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25CASR-E1011Qhet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-G565GGYGGGSSSGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25C17orf57-R211*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C17orf57-I279Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-V312Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-D541Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR1-R80Thet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25RNF43-L418Mhomozygous0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ANK2-P2835Shet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25SMYD4-Y727Chomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SMYD4-R131Ihomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.25SMYD4-G58Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYBBP1A-D279Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYBBP1A-I184Vhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25GBE1-I334Vhet unknown0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT81-Y282*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25KRT81-L248Rhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT81-G52Rhet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.735 (possibly damaging), Testable gene in GeneTests
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FPR1-E346Ahomozygous0.799Unknown
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
0.25MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V244Lhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25IRAK4-A428Thet unknown0.159Unknown
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
0.25SNTG2-S168Yhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.25SNTG2-S200Lhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.813 (possibly damaging)
0.25SNTG2-Q314Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SNTG2-I391Vhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNTG2-T495Mhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USP35-T655Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25USP35-A876Phomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-H2599Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLEC1A-L70Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CLEC1A-G26Ahomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25MAPK8IP2-G226Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAPK8IP2-L604Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B3-A157Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly 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
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C5orf20-S135Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-K119Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25FGFR4-P136Lhet unknown0.722Unknown
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)
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PABPC3-Q172Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-E178Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PABPC3-A181Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.25PABPC3-M251Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-K254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PABPC3-E345*het unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0ITPA-P32Thet unknown0.061Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0OCA2-A481Thet unknown0.001Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0POR-E601*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,727,004,753 bases (96.3% of callable positions, 90.2% of total positions)

Coding region coverage: 31,208,216 bases (94.0% of all genes, 95.1% 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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