hu6182D0 - GET-Evidence variant report

Variant report for hu6182D0

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1HFE-C282YLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0494516This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.1
2COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
3NOD2-R702WLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0334821NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups.1
4MTRR-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
5rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
6WFS1-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
7RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
8ELAC2-S217LLowUncertainUncertain pathogenic

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

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
10TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
11rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
12ADRB2-T164ILowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.0109686This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs.1
13ABCC6-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
14PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
15NPC1-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
16KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
17MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
18CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
19COL9A2-T246MLowLikelyLikely benign

Unknown, Heterozygous
0.0252835Probably benign.1
20NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
21SDHD-G12SLowLikelyLikely benign

Unknown, Heterozygous
0.008087Reported to increase risk of Cowden disease, although this was already contradicted by a prior report of it as a non-pathogenic polymorphism. The report claiming a pathogenic effect (Ni et al.) may have had errors in analysis, and their observation of the variant in patients isn't different from the frequency of the variant in ExAC data.1
22LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Homozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
23DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
24GAA-D91NLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0237033This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. 1
25GALT-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
26PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
27PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
28PALB2-E672QLowUncertainUncertain benign

Unknown, Heterozygous
0.0244469Probably benign.1
29APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
30RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
31SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
32TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.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
34TYR-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
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31210902 / 33282720 = 93.78%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2636037797328145206138955553-955753, 957581-957782, 957791-957842, 970657-970704, 976045-976103, 976105-976184, 976189, 976199-976260, 976553-976777, 976858-976914, 976935-977018, 977058-977082, 977336-977350, 977356-977368, 977385, 977415-977429, 977441-977467, 977479-977542, 978619-978621, 978624, 978628, 978640-978653, 978657-978660, 978666-978667, 978676-978719, 978727-978822, 978830-978837, 978918-978974, 978984-979112, 979203-979218, 979233-979276, 979297-979403, 979489-979492, 979501-979529, 979554, 979571-979621, 979775-979776, 979781, 979789-979792, 979815-979819, 980553-980575, 980596, 980601-980610, 980618, 980621, 980626, 980637-980641, 980644, 980651-980654, 980776-980811, 980829-980831, 980834, 980862-980900, 981122, 981147, 981155, 981159-981162, 981176, 981184-981186, 981199, 981212-981213, 981222-981231, 981240-981256, 981398-981424, 981447-981449, 981452-981468, 981545-981555, 981562-981563, 981568-981569, 981580-981584, 981599, 981603, 981610-981613, 981622, 981627, 981632, 981641-981645, 981777-982016, 982023-982029, 982037-982092, 982108-982115, 982200-982319, 982330-982337, 982707-982751, 982802-982804, 982833-982834, 982968-983028, 983156-983249, 983392-983425, 983434-983545, 983559-983745, 984247-984416, 984428-984439, 984616-984651, 984662-984674, 984677-984678, 984687, 984698-984778, 984807-984831, 984954-984956, 984959-984975, 984999, 985045, 985075-985175, 985292-985338, 985346-985397, 985409-985417, 985613-985656, 985692-985709, 985812, 985815, 985843-985844, 985858-985880, 985883-985892, 985901-985950, 986106-986107, 986117-986159, 986175-986217, 986633-986749, 986833-986915, 986937-986984, 986997-987025, 987108-987135, 987143-987145, 987155, 987164-987172, 987177-987179, 987182, 987192-987195, 989133-989145, 989152-989153, 989159, 989171-989172, 989183-989204, 989215-989263, 989293, 989296, 989305, 989311-989322, 989335-989357, 989828-989852, 989860-989912, 990207-990231, 990240-990250, 990253-990268, 990280-990282, 990294-990322, 990333-990350
2GABRD10.23693892568065103713591950863-1950930, 1956381-1956387, 1956422-1956424, 1956433, 1956448-1956469, 1956488-1956493, 1956800-1956827, 1956839, 1956970-1957001, 1957025-1957034, 1957041-1957177, 1959016-1959018, 1959030-1959041, 1959085-1959087, 1959093, 1959096-1959098, 1959594-1959613, 1959618, 1959633-1959717, 1959725-1959731, 1960550-1960620, 1960626-1960652, 1960662-1960693, 1960703-1960705, 1960990-1961081, 1961105-1961117, 1961138-1961142, 1961146-1961160, 1961166-1961201, 1961422-1961476, 1961484-1961721
3PEX1010.527013251783894649812337247-2337253, 2337923-2337959, 2337969-2338047, 2338161-2338178, 2338206-2338219, 2338222, 2338233-2338245, 2338249, 2338264-2338265, 2338298-2338299, 2338311-2338334, 2339891-2339900, 2339967-2339973, 2339984-2340034, 2340050, 2340053, 2340103-2340115, 2340154, 2340177-2340211, 2340257-2340291, 2343830-2343941
4NPHP410.9549170754496619342815924553-5924554, 5935152, 5935155-5935160, 5947504-5947511, 5950943-5950964, 6038330-6038473, 6046215-6046216, 6046229, 6046241, 6046253, 6046276-6046278, 6046281, 6046285
5ESPN10.7497076023391864225656485016-6485158, 6485165-6485253, 6485261-6485305, 6488294-6488337, 6488369-6488393, 6488460-6488479, 6500412-6500437, 6500451-6500482, 6500686-6500707, 6500713-6500719, 6500731-6500809, 6500850-6500868, 6501029-6501065, 6501077-6501090, 6505846-6505860, 6508873-6508895, 6512130, 6512135
6PLEKHG510.9231734085920424531896528006, 6528010, 6528133-6528136, 6529183-6529185, 6530795-6530832, 6530844-6530847, 6530851-6530864, 6530935-6530942, 6531085-6531087, 6531124, 6531650, 6531677-6531681, 6532657, 6532669-6532670, 6533407-6533423, 6534080-6534081, 6534172-6534191, 6534219-6534220, 6534559-6534566, 6534623-6534632, 6535168-6535196, 6535549-6535558, 6537689-6537706, 6556591-6556629, 6557380-6557383
7KIF1B10.999435347261433531310357041-10357043
8PEX1410.75485008818342278113410659340-10659343, 10683094, 10683098-10683105, 10684423-10684459, 10687329-10687371, 10687400-10687418, 10689600, 10689642-10689645, 10689668-10689715, 10689743-10689769, 10689789-10689805, 10689856, 10689865-10689867, 10689957-10689974, 10689998-10690044
9TARDBP10.9381526104417777124511078913, 11082226-11082264, 11082356-11082362, 11082527-11082533, 11082582-11082597, 11082630-11082636
10MASP210.6327025715672757206111087232-11087238, 11087704-11087705, 11090233, 11094909-11094916, 11094919, 11097754, 11097769-11097770, 11097783-11097791, 11097795-11097797, 11097816-11097846, 11102932-11102965, 11102987-11102988, 11102998-11103079, 11103396-11103417, 11103438-11103497, 11103506-11103507, 11103516-11103592, 11105465-11105584, 11105595-11105596, 11106613-11106638, 11106697-11106723, 11106735-11106789, 11106948-11107022, 11107056-11107156, 11107173-11107174, 11107260-11107264
11MTHFR10.995941146626088197111853998-11854004, 11854444
12PLOD110.9597069597069688218411994843, 11994879, 12008033, 12008039-12008048, 12009902, 12010569-12010570, 12018652-12018654, 12023679-12023683, 12024238-12024240, 12024707-12024711, 12024841, 12026327, 12026338-12026341, 12027072-12027074, 12027105, 12030727-12030740, 12030753-12030770, 12030856, 12030861-12030873
13CLCNKA10.87063953488372267206416349177-16349197, 16354585-16354593, 16355634-16355638, 16356460-16356461, 16356485-16356490, 16356522, 16356528-16356540, 16356956-16357007, 16357027-16357060, 16357095-16357109, 16357147, 16357158-16357159, 16357167-16357169, 16358225-16358233, 16358698-16358703, 16358721-16358731, 16358734-16358740, 16358743, 16358753-16358786, 16358938-16358951, 16359688-16359694, 16360134-16360147
14CLCNKB10.79166666666667430206416371066-16371067, 16371079, 16371085, 16373124-16373140, 16375057-16375058, 16375063-16375064, 16375716-16375717, 16375720-16375723, 16376191, 16376380-16376401, 16377019-16377024, 16377069-16377081, 16377377-16377426, 16377463-16377474, 16377479, 16377973-16377985, 16378205-16378219, 16378268-16378272, 16378282-16378286, 16378301-16378315, 16378693-16378723, 16378732-16378747, 16378754-16378822, 16378829-16378887, 16380134-16380135, 16380167-16380177, 16380189-16380196, 16380252, 16381955-16381964, 16381969, 16382006-16382008, 16382170-16382185, 16382222-16382225, 16382947-16382949, 16382971, 16383364-16383369
15ATP13A210.9952018063787817354317313005-17313013, 17313604, 17326552-17326558
16ALDH4A110.988770685579219169219199364, 19208344-19208353, 19215929-19215936
17PINK110.998854524627722174620960211-20960212
18ALPL10.9885714285714318157521887593-21887605, 21890564-21890566, 21896866-21896867
19HSPG210.989981785063751321317622150187-22150188, 22150193, 22150814-22150826, 22172635-22172638, 22186064-22186066, 22199141-22199149, 22199500-22199530, 22207003-22207004, 22207286-22207289, 22263648-22263710
20WNT410.8967803030303109105622456140-22456148, 22456192-22456208, 22456325-22456330, 22469339-22469415
21HMGCL10.99284253578732797824134721-24134725, 24151873-24151874
22FUCA110.9371877230549688140124189724, 24194459-24194464, 24194473, 24194476, 24194500-24194525, 24194569-24194588, 24194659, 24194685, 24194691-24194692, 24194698-24194703, 24194715-24194717, 24194748-24194766, 24194776
23LDLRAP110.980582524271841892725870198-25870201, 25870240-25870253
24SEPN110.88848920863309186166826126722-26126904, 26135106-26135108
25YARS10.9905482041587915158733282831-33282845
26KCNQ410.87835249042146254208841249766-41249793, 41249800-41249827, 41249848-41249948, 41249955-41249986, 41249993-41249998, 41250013-41250057, 41284252-41284260, 41284267, 41284271-41284273, 41296770
27LEPRE110.996381727725018221143212431, 43232449-43232455
28SLC2A110.9885057471264417147943424306-43424322
29EIF2B310.994113318616638135945392357-45392364
30MMACHC10.99882214369847184945974740
31STIL10.9971554176364111386747737847-47737854, 47748105-47748107
32DHCR2410.9903288201160515155155340772-55340773, 55340791, 55352594-55352601, 55352719, 55352790-55352792
33PCSK910.9759499759499850207955505553-55505556, 55505592-55505594, 55521670-55521674, 55521677-55521704, 55521732-55521735, 55521743, 55521756-55521758, 55521771, 55521848
34ACADM10.998435054773082127876227022, 76228380
35COL11A110.9868059373282725457103364235-103364295, 103364323-103364329, 103364497-103364498, 103435815, 103435818
36GSTM110.955859969558629657110230496-110230508, 110230517-110230531, 110230854
37VANGL110.9993650793650811575116228075
38NOTCH210.985976267529671047416120539665-120539714, 120539778-120539784, 120539916, 120539936, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120611960, 120611987-120612009
39PRPF310.999025341130622052150310728-150310729
40FLG10.9634826850484244512186152276723-152276742, 152278431-152278437, 152279373-152279409, 152279742-152279748, 152279892, 152280164, 152280188, 152280864, 152281350-152281356, 152281586-152281624, 152281692-152281694, 152281745-152281751, 152282242-152282263, 152282300-152282301, 152283089-152283117, 152283261, 152283272, 152283979, 152284170-152284172, 152284185, 152284194, 152284210, 152284262-152284263, 152284336-152284344, 152284524, 152284655, 152284958-152284985, 152285045-152285072, 152285109-152285142, 152285187-152285188, 152285212-152285247, 152285463-152285496, 152285643-152285682, 152285806, 152285977-152286005, 152286169, 152286264-152286268, 152287890
41CHRNB210.9993373094764711509154544386
42GBA10.9991645781119511197155186194
43PKLR10.9988405797101421725155269988-155269989
44LMNA10.998236331569661567156105003
45LMNA10.9994987468671711995156105003
46SEMA4A10.9982502187226642286156131161, 156131256-156131258
47NTRK110.97532413216228592391156830740-156830789, 156830845-156830852, 156830855
48F510.99670411985019226675169510337-169510343, 169510472-169510486
49CFH10.9883658008658433696196716353-196716395
50CFHR110.997985901309162993196801042, 196801078
51CACNA1S10.99786552828175125622201081429-201081440
52USH2A10.99961560638093615609215916542-215916544, 216496951-216496953
53ADCK310.99228395061728151944227152821-227152824, 227153373, 227153425-227153432, 227172955-227172956
54GJC210.1151515151515211681320228345460-228345465, 228345479-228345555, 228345562-228345572, 228345588-228345622, 228345633-228345728, 228345750-228345865, 228345873-228346199, 228346210-228346250, 228346260-228346405, 228346416-228346548, 228346559-228346618, 228346630-228346693, 228346703-228346730, 228346737-228346741, 228346744-228346745, 228346754, 228346760-228346779
55ACTA110.773368606701942571134229567520-229567523, 229567584-229567600, 229567626, 229567629-229567633, 229567817-229567836, 229567868-229567893, 229567914-229567931, 229568017-229568088, 229568116-229568178, 229568317-229568326, 229568385-229568394, 229568787-229568797
56AGT10.9965706447187951458230846034-230846038
57GNPAT10.9960841899167982043231377141, 231411881-231411887
58ACTN210.9966480446927492685236850018-236850025, 236850041
59MTR10.9992101105845233798237060942-237060944
60RYR210.99818840579712714904237821259-237821285
61GATA3100.976779026217233113358097619-8097641, 8097844-8097846, 8100734-8100738
62OPTN100.997693194925034173413151244-13151247
63PHYH100.999016715830881101713341986
64CUBN100.9998160412067721087216981129-16981130
65PTF1A100.7071935157041528998723481460-23481461, 23481511-23481513, 23481580-23481591, 23481623-23481624, 23481627-23481628, 23481635-23481636, 23481650-23481667, 23481698-23481726, 23481737-23481799, 23481833-23481862, 23481870-23481908, 23481914, 23481919, 23481932-23481940, 23482102-23482158, 23482164-23482182
66RET100.9715994020926895334543572707-43572779, 43600597-43600608, 43600629-43600635, 43606856-43606857, 43614996
67ERCC6100.9848282016956768448250738775-50738811, 50740776, 50740784-50740813
68NODAL100.9664750957854435104472195576, 72201231-72201260, 72201341-72201344
69PRF1100.9778177458033637166872358276-72358284, 72358292-72358293, 72358423-72358447, 72358657
70SLC29A3100.997899159663873142873082577-73082578, 73082581
71CDH23100.99870723945903131005673439212-73439213, 73490285-73490294, 73491972
72VCL100.999118942731283340575758101-75758103
73LDB3100.91575091575092184218488428460-88428505, 88441354, 88441365-88441368, 88441373-88441374, 88441377, 88441424-88441445, 88466302-88466327, 88466336-88466346, 88466394, 88466430-88466438, 88476138, 88476143, 88476170, 88476193, 88476197, 88476201, 88476218-88476220, 88476278-88476286, 88476401, 88476404, 88476467-88476472, 88476476-88476510
74BMPR1A100.9937460913070710159988683143-88683149, 88683474-88683476
75GLUD1100.9630292188431762167788822413-88822414, 88854085-88854092, 88854362-88854376, 88854420-88854424, 88854439-88854443, 88854452, 88854474-88854477, 88854481, 88854490-88854508, 88854513-88854514
76HPS1100.9667616334283702106100177364-100177414, 100177470-100177482, 100177945-100177946, 100189588-100189591
77HPS6100.96821305841924742328103825279-103825286, 103825387-103825400, 103825443-103825446, 103825493-103825500, 103825509, 103825576-103825590, 103825678-103825689, 103826052-103826054, 103826394, 103826575-103826582
78CYP17A1100.9954158480681171527104590530, 104590691-104590692, 104592426-104592428, 104592877
79COL17A1100.9995549621717824494105816820, 105816916
80EMX2100.9868247694334710759119302938-119302944, 119302949-119302951
81BAG3100.9976851851851941728121411353-121411356
82FGFR2100.99390986601705152463123324990-123325004
83HTRA1100.778932778932783191443124221169-124221220, 124221231-124221235, 124221248-124221270, 124221276, 124221288-124221319, 124221326-124221453, 124221470, 124221475, 124221505-124221538, 124221598-124221639
84UROS100.987468671679210798127477441-127477450
85HRAS110.49298245614035289570532636-532686, 532696-532715, 532730, 532734-532736, 532739-532743, 532746-532748, 532753-532755, 533460-533497, 533525-533536, 533547, 533571, 533607-533612, 533794-533805, 533815-533822, 533826-533868, 533911-533944, 534220-534256, 534279, 534282-534284, 534291, 534317-534322
86TALDO1110.811637080867851911014747482-747569, 763379-763435, 763891-763907, 763916-763944
87SLC25A22110.41358024691358570972791936-791956, 791959-791961, 791978-792017, 792142-792155, 792180-792207, 792325-792340, 792353-792401, 792446-792458, 792553-792595, 792606-792727, 792896-792923, 792930-792932, 792953-792988, 793538-793574, 793594-793598, 793603-793605, 794776-794814, 794852-794901, 794987-795006
88PNPLA2110.539933993399346971515819719-819905, 821628-821629, 821724-821732, 821742-821767, 821820-821823, 822017, 822489, 822594-822606, 823530, 823555-823587, 823700, 823719, 823781-823848, 823998-824002, 824008-824030, 824033-824035, 824057-824082, 824095-824130, 824314-824330, 824333, 824344-824373, 824401-824408, 824523-824564, 824574-824610, 824639-824641, 824650-824691, 824721-824733, 824765, 824774, 824777-824810, 824815, 824833-824859
89CTSD110.7126715092816835612391774739-1774742, 1774751-1774755, 1774827, 1774844-1774865, 1774897-1774899, 1775037-1775045, 1775231-1775240, 1775259-1775285, 1775318-1775329, 1775336-1775338, 1775350-1775368, 1778555-1778595, 1778757-1778765, 1778769-1778771, 1780199-1780218, 1780233-1780250, 1780277-1780303, 1780317, 1780748, 1780755-1780756, 1780771-1780787, 1780863-1780868, 1782632-1782653, 1782686-1782691, 1785022-1785089
90TNNI2110.8160291438981015491861454-1861468, 1861633-1861657, 1861760, 1861769-1861784, 1861803, 1861808, 1861812, 1861817, 1861848, 1861855-1861864, 1861869, 1862072-1862088, 1862271, 1862283-1862285, 1862294, 1862361-1862366
91TNNT3110.223938223938226037771944113-1944121, 1944785-1944797, 1946329-1946337, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953710-1953740, 1954951-1954972, 1954985, 1955014-1955042, 1955058-1955067, 1955161-1955210, 1955215, 1955224-1955238, 1955562-1955675, 1955776-1955778, 1955788-1955851, 1955869-1955878, 1956059-1956149, 1958193-1958194, 1958218-1958233, 1959668-1959722
92H19110.99066293183941010712017820-2017826, 2018000, 2018363-2018364
93IGF2110.0267229254571036927112154217-2154453, 2154747-2154895, 2156598-2156621, 2156631-2156759, 2161374-2161526
94TH110.09015873015873143315752185464, 2185471-2185577, 2185598, 2185602-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189398, 2189721-2189818, 2189824-2189872, 2190880-2190912, 2190927-2190984, 2190994-2191101, 2191920-2191966, 2191979-2191981, 2191984-2192000, 2192927-2192952, 2192966, 2192978-2193003, 2193007
95KCNQ1110.8030526834071940020312466329-2466685, 2466695-2466714, 2592557, 2592567, 2593281, 2593330-2593333, 2604758, 2610073-2610079, 2683299, 2799254-2799260
96CDKN1C110.150368033648798089512905239-2905294, 2905318-2905330, 2905357-2905364, 2905900-2906456, 2906470-2906539, 2906554-2906627, 2906649-2906655, 2906688-2906710
97HBD110.9842342342342374445255652-5255658
98SMPD1110.994198312236291118966411931-6411941
99ABCC8110.998314369995798474617498211-17498212, 17498215-17498217, 17498271, 17498287, 17498301
100WT1110.85842985842986220155432449502-32449508, 32456394, 32456448, 32456451-32456458, 32456552-32456581, 32456587-32456634, 32456650-32456665, 32456672-32456706, 32456714-32456738, 32456747-32456754, 32456763-32456764, 32456803-32456816, 32456846-32456869, 32456887
101ALX4110.9830097087378621123644286464-44286470, 44286605-44286615, 44331279-44331281
102SLC35C1110.996212121212124105645827408-45827410, 45827429
103PEX16110.9202689721421783104145935746-45935749, 45935875-45935880, 45935953-45935984, 45935991-45935996, 45937378-45937382, 45939251-45939277, 45939333-45939335
104F2110.94649545211343100186946742343-46742349, 46745046-46745049, 46747613-46747622, 46747625, 46747649-46747668, 46747703, 46749546-46749565, 46750319-46750321, 46750355-46750360, 46751083-46751110
105DDB2110.993769470404988128447259689-47259696
106MYBPC3110.97098039215686111382547354472-47354479, 47367886-47367907, 47368991-47368997, 47370022-47370044, 47370086, 47370091-47370092, 47371447-47371454, 47371625-47371651, 47372068-47372070, 47372122-47372125, 47372145, 47372151-47372154, 47372986
107RAPSN110.977401129943528123947459546, 47459549-47459550, 47459576, 47462749-47462762, 47463233-47463237, 47469689, 47470358-47470361
108NDUFS3110.977358490566041879547600854-47600858, 47600863, 47602493-47602504
109SERPING1110.999334664005321150357381929
110BEST1110.9795221843003436175861723197-61723198, 61723203, 61723220, 61723282, 61723365-61723394, 61724335
111SLC22A12110.44584837545126921166264359035, 64359038-64359043, 64359072-64359078, 64359081-64359082, 64359096-64359101, 64359108-64359122, 64359126-64359138, 64359148-64359153, 64359170-64359190, 64359202-64359237, 64359247-64359252, 64359261-64359271, 64359277-64359341, 64359348-64359430, 64360271, 64360274, 64360283, 64360288, 64360293, 64360297-64360331, 64360334, 64360877-64360912, 64360922-64360978, 64360996-64361031, 64361115, 64361121-64361122, 64361151-64361236, 64361255-64361257, 64361267-64361275, 64365988-64366007, 64366025-64366028, 64366280-64366335, 64366382-64366395, 64367148-64367166, 64367188-64367206, 64367216-64367362, 64367839-64367850, 64367913-64367928, 64368207-64368212, 64368236-64368293, 64368327
112PYGM110.94701463028865134252964521007-64521036, 64521047, 64521093, 64521099, 64521108-64521118, 64521351-64521373, 64521396-64521415, 64521442-64521447, 64521451-64521453, 64521460, 64521467, 64521765, 64521773-64521777, 64525807, 64526175-64526176, 64527144-64527167, 64527304, 64527361, 64527366
113CST6110.99333333333333345065780299-65780301
114SPTBN2110.98410706817231114717366460711, 66468004-66468010, 66468100, 66468299-66468314, 66468366, 66468383, 66468386, 66468487, 66468578-66468580, 66468741, 66468744, 66472227-66472232, 66472508, 66472517, 66472520, 66472523, 66472533, 66472614, 66472621-66472622, 66472710-66472711, 66472739-66472743, 66473240, 66473294, 66473298, 66475060-66475062, 66475075-66475084, 66475095-66475103, 66475128-66475135, 66475160-66475162, 66475237, 66475244, 66475262-66475267, 66475671-66475674, 66475704-66475705, 66475710-66475712, 66475715, 66475761-66475764, 66483372
115PC110.90443878993497338353766616384-66616390, 66616511, 66616777-66616786, 66617256-66617257, 66617267, 66617323-66617324, 66617329, 66617429-66617442, 66617478, 66617702-66617723, 66617739-66617763, 66618153, 66618184, 66618188-66618191, 66618286-66618297, 66618393-66618394, 66618511-66618527, 66618551-66618597, 66619293, 66619979-66619980, 66620065-66620068, 66620071-66620083, 66620092-66620094, 66631259-66631294, 66631322-66631334, 66631345-66631346, 66631350-66631351, 66631356, 66633683-66633687, 66633734-66633747, 66633803, 66637803-66637813, 66637886, 66638666-66638667, 66638842-66638850, 66638874, 66638900-66638904, 66639165, 66639173-66639178, 66639189-66639216, 66639223, 66639264-66639269
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117AIP110.5307150050352546699367254634-67254636, 67256756-67256765, 67256819-67256833, 67256841-67256874, 67256877, 67256881-67256884, 67256897, 67256900-67256903, 67256909-67256912, 67257509-67257513, 67257516, 67257530-67257643, 67257664-67257685, 67257787-67257864, 67257881-67257928, 67258259-67258260, 67258272-67258299, 67258323-67258376, 67258387-67258391, 67258401-67258432, 67258457
118NDUFS8110.8388625592417110263367799628-67799653, 67799759, 67799776, 67799779, 67799782, 67799789, 67800408-67800429, 67800441, 67800638, 67800650-67800655, 67800719-67800726, 67803754, 67803929-67803953, 67804022-67804023, 67804052-67804056
119TCIRG1110.76413959085439588249367808823, 67808828, 67808853-67808855, 67809220-67809223, 67810110-67810141, 67810209, 67810256-67810317, 67810461-67810483, 67810493-67810498, 67810838-67810839, 67810851-67810903, 67810923-67810952, 67811038-67811050, 67811309-67811357, 67811639-67811697, 67811719-67811728, 67811747-67811811, 67812494-67812495, 67812498, 67812531-67812539, 67814936, 67814939, 67815114-67815117, 67815174, 67815177-67815178, 67815244, 67815249, 67815253-67815254, 67816564-67816565, 67816569-67816583, 67816752, 67816756-67816760, 67817130-67817240, 67817667-67817670, 67817703-67817713
120LRP5110.94451320132013269484868080183-68080273, 68115707-68115709, 68131295-68131298, 68131346-68131371, 68153934-68153939, 68181222, 68192570-68192580, 68201206-68201217, 68201248-68201259, 68204453-68204456, 68205966, 68207256-68207274, 68207342-68207384, 68216452-68216473, 68216512-68216525
121CPT1A110.9905254091300622232268527741-68527746, 68540800-68540807, 68552284, 68552287-68552293
122IGHMBP2110.95774647887324126298268671421-68671455, 68671476-68671479, 68671500-68671506, 68673555-68673561, 68673649, 68696792-68696794, 68696800-68696812, 68701968, 68701971, 68703987, 68703997-68704009, 68704349-68704351, 68704500-68704536
123DHCR7110.9915966386554612142871146421-71146426, 71146577, 71146581, 71146673, 71146691, 71146842, 71149985
124MYO7A110.670276774969922192664876853824-76853827, 76858844-76858846, 76858851-76858891, 76858940, 76858971-76858996, 76867007, 76867010-76867012, 76867085-76867097, 76867799-76867804, 76867808-76867821, 76867953, 76868011-76868012, 76868018, 76868021-76868030, 76868042-76868044, 76868369-76868378, 76869412-76869421, 76873233-76873236, 76873272-76873302, 76873349-76873355, 76873900-76873906, 76873992-76874011, 76874034, 76877181-76877194, 76883794, 76883814-76883931, 76885802-76885959, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895642-76895668, 76895704-76895712, 76895720-76895760, 76900389, 76900424-76900442, 76900446-76900451, 76900455, 76900475-76900502, 76901065-76901109, 76901128, 76901143-76901184, 76901742-76901748, 76901806-76901828, 76901844-76901862, 76903099-76903143, 76903176-76903191, 76903242-76903288, 76909545-76909566, 76909580-76909581
125FZD4110.9714993804213146161486666075-86666102, 86666110-86666127
126DYNC2H1110.99992275009656112945102991528
127ATM110.9998909606367919171108216635
128DLAT110.9994855967078211944111910043
129APOA1110.9838308457711413804116706796-116706797, 116706801, 116706804, 116706833-116706836, 116706863-116706864, 116706870-116706872
130FXYD2110.997716894977171438117693432
131WNK1120.99118757868233637149862745-862767, 862827-862831, 862841, 862864-862894, 862923, 862989, 994395
132CACNA2D4120.99970708845929134141906620
133CACNA1C120.994208199969523865612676810, 2676827, 2676836, 2676839-2676845, 2788729, 2788735, 2788879, 2794934-2794940, 2794974-2794980, 2795335, 2795364-2795370, 2797825, 2797829, 2800298
134KCNA1120.993279569892471014885020684-5020693
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136TNFRSF1A120.980263157894742713686438580-6438606
137SCNN1A120.992684042066761621876464570, 6464582, 6483824-6483837
138TPI1120.96666666666667257506976731-6976754, 6976757
139ATN1120.99972012314582135737047143
140KRAS120.982456140350881057025380194-25380203
141DNM1L120.998190863862514221132866244-32866246, 32866249
142PKP2120.999204455051712251433049536, 33049553
143LRRK2120.9980221518987315758440761537-40761540, 40761543-40761553
144COL2A1120.9968637992831514446448372429-48372437, 48373317-48373321
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146TUBA1A120.971491228070181345649522210-49522216, 49522269, 49522445, 49522457, 49522468, 49522578, 49522585
147AQP2120.99754901960784281650349361-50349362
148ACVRL1120.9708994708994744151252306292-52306299, 52306887, 52306898, 52306902, 52307085-52307089, 52307092, 52307343-52307347, 52307353-52307356, 52307382-52307388, 52307457, 52308352-52308360, 52314626
149KRT81120.93148880105402104151852681437, 52681912, 52681915, 52681920-52681925, 52684020-52684061, 52685071-52685077, 52685115-52685134, 52685174-52685199
150KRT86120.9575633127994562146152696893-52696934, 52699107-52699119, 52699545-52699551
151KRT6B120.9687315634218353169552843632-52843637, 52845365-52845371, 52845432-52845438, 52845554-52845577, 52845797-52845805
152KRT6C120.9551622418879176169552865295-52865300, 52867024-52867030, 52867094, 52867105, 52867183-52867236, 52867457-52867463
153KRT6A120.99528023598828169552884735, 52886908-52886914
154KRT5120.997743936830234177352908896-52908899
155KRT1120.999483204134371193553069235
156LEMD3120.999634502923981273665563393
157CEP290120.99919354838716744088443123, 88481632, 88519043, 88535055-88535057
158UNG120.997876857749472942109535611-109535612
159MMAB120.989375830013288753109998845, 110011220-110011226
160MVK120.9941225860621371191110034246-110034252
161TRPV4120.98700305810398342616110221458, 110221461-110221473, 110224515-110224524, 110230597-110230599, 110246124-110246125, 110252580-110252584
162ATXN2120.839928970065966313942112036588, 112036602-112036827, 112036845-112037151, 112037176-112037238, 112037261-112037281, 112037285, 112037295-112037306
163SDS120.9817629179331318987113830822-113830829, 113830832, 113836354-113836362
164ACADS120.96287328490718461239121175778-121175791, 121176369, 121176447-121176473, 121177149-121177151, 121177251
165HNF1A120.904008438818571821896121416706-121416710, 121434087-121434095, 121434189-121434196, 121434355, 121434358, 121434364, 121434534-121434545, 121435277-121435296, 121437286-121437310, 121437372-121437378, 121437382, 121437385-121437417, 121438868, 121438878, 121438884-121438888, 121438904-121438939, 121438964-121438967, 121438979-121438990
166HPD120.889170896785111311182122277634, 122284958-122284964, 122284980, 122284987, 122284996, 122285109, 122286926, 122286931-122286955, 122287593-122287628, 122287695-122287696, 122292609-122292612, 122292644-122292690, 122295316, 122295325, 122295335, 122295701
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168SACS130.9994905385735171374023910997-23910999, 23911339-23911342
169B3GALTL130.9859719438877821149731774222-31774240, 31774259, 31774263
170BRCA2130.9997075168177831025732903629, 32920989-32920990
171FREM2130.999474237644585951039261685, 39261948-39261951
172SLC25A15130.99889624724062190641382661
173TNFSF11130.99895178197065195443148565
174SUCLA2130.9583333333333358139248570978-48571004, 48571109-48571112, 48575351-48575377
175ATP7B130.9943155979990925439852508955-52508956, 52509048, 52509051-52509052, 52509056, 52509111-52509117, 52513264, 52518286-52518290, 52523928-52523932, 52524466
176ZIC2130.611006879299566221599100634349-100634359, 100634382-100634423, 100634452-100634486, 100634514-100634610, 100634700-100634720, 100634731-100634734, 100634741-100634756, 100634817-100634836, 100634900-100634902, 100634976-100634981, 100634996-100634997, 100635000, 100635008-100635022, 100635026-100635029, 100635032, 100635053-100635078, 100635175-100635197, 100635278-100635281, 100635332-100635345, 100635350, 100637609-100637619, 100637645, 100637657-100637662, 100637665-100637728, 100637738-100637743, 100637749-100637936
177PCCA130.9995427526291712187100741450
178COL4A1130.99700598802395155010110863994-110863995, 110864225, 110959337, 110959342-110959344, 110959354-110959361
179F7130.1430711610486911441335113760156-113760219, 113765004-113765138, 113765158-113765164, 113768066-113768068, 113768079, 113768162, 113768184-113768213, 113768237-113768238, 113768241-113768246, 113768267-113768274, 113769974-113770114, 113771080-113771126, 113771148-113771167, 113771183, 113771787-113771910, 113772727-113773197, 113773208-113773209, 113773220-113773256, 113773259, 113773280-113773322
180F10130.770279481935923371467113777170-113777234, 113795287-113795308, 113798222-113798265, 113798305, 113798333, 113798337, 113798340-113798344, 113798388-113798402, 113803323, 113803331-113803358, 113803412-113803425, 113803499-113803500, 113803527, 113803546-113803577, 113803584, 113803618-113803655, 113803667-113803700, 113803794-113803825
181GRK1130.98817966903073201692114325869-114325875, 114325953-114325965
182RPGRIP1140.9865319865319952386121762838-21762849, 21769142-21769169, 21769184-21769195
183SLC7A7140.999348958333331153623282147
184PABPN1140.920738327904457392123790681-23790683, 23790695-23790700, 23790736-23790756, 23790855-23790858, 23790896-23790914, 23790924, 23790970-23790975, 23790980, 23791018-23791029
185MYH7140.999483471074383580823894010-23894012
186NRL140.8151260504201713271424550535-24550559, 24550566-24550626, 24550772-24550777, 24551802, 24551814-24551816, 24551820-24551830, 24551881-24551905
187PCK2140.995319812792519192324572439-24572447
188TGM1140.9902200488997624245424723998-24724001, 24724295, 24724303-24724306, 24731433-24731447
189FOXG1140.83605442176871241147029236674-29236712, 29236748-29236949
190COCH140.9921355111917713165331344290-31344302
191NKX2-1140.994195688225547120636986602-36986606, 36986913, 36988378
192FANCM140.997559785261115614745618052, 45623939-45623947, 45623989, 45623992-45623995
193C14orf104140.9781225139220455251450100669, 50100696, 50101087, 50101445-50101484, 50101559, 50101564, 50101704-50101713
194PYGL140.9948899371069213254451398428, 51410913-51410916, 51410967, 51411102-51411108
195GCH1140.977423638778221775355369202-55369203, 55369210-55369224
196ZFYVE26140.99960629921263762068257301, 68282647-68282648
197VSX2140.9447513812154760108674706319-74706337, 74706408-74706432, 74706462-74706476, 74706617
198EIF2B2140.998106060606062105675471451, 75471603
199MLH3140.999541494727192436275506672-75506673
200POMT2140.94673768308921120225377786780-77786817, 77786892-77786910, 77786939-77786983, 77786995-77786996, 77787000, 77787005-77787019
201SPATA7140.999444444444441180088883185
202ATXN3140.999079189686921108692559615
203AMN140.009544787077826713491362103389026-103389068, 103390048-103390068, 103390074-103390122, 103390131-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
204INF2140.351224333750105167703-105167731, 105167740, 105167751-105167752, 105167770-105167798, 105167807-105167885, 105167891-105167908, 105167913, 105167929-105167937, 105167946-105167947, 105167953, 105167964-105167974, 105167997-105168013, 105168055-105168057, 105168060, 105168089-105168093, 105169442-105169452, 105169469-105169470, 105169473-105169482, 105169548-105169555, 105169636-105169685, 105169709, 105169717-105169730, 105169750-105169770, 105169785-105169791, 105170253-105170283, 105172372-105172463, 105172469-105172512, 105173261-105173265, 105173269, 105173272-105173289, 105173295-105173388, 105173590-105173602, 105173631-105173632, 105173638-105173639, 105173649, 105173662-105173663, 105173676, 105173719-105173834, 105173856-105174231, 105174244-105174262, 105174265-105174266, 105174288-105174339, 105174781-105174862, 105174873, 105174887, 105174890-105174924, 105175008-105175021, 105175052-105175058, 105175648-105175654, 105175989, 105175994-105175995, 105175998-105175999, 105176024-105176027, 105176030-105176042, 105176425-105176525, 105177274-105177278, 105177305-105177344, 105177416-105177418, 105177426-105177523, 105177966-105177974, 105177996-105178036, 105178775-105178859, 105178873-105178890, 105179175-105179214, 105179234-105179294, 105179301-105179329, 105179544-105179549, 105179592-105179593, 105179605-105179646, 105179799-105179856, 105179870-105179888, 105179909-105179910, 105179913-105179943, 105180540-105180553, 105180568-105180584, 105180590-105180640, 105180693-105180706, 105180710, 105180715, 105180719, 105180758-105180766, 105180783-105180804, 105180809, 105180813, 105180816, 105180843, 105180848, 105180852, 105180862, 105180868, 105180918-105180968, 105180991-105181043, 105181058-105181098, 105181108-105181109, 105181125-105181161, 105181169-105181181, 105181641-105181676
205NIPA1150.8202020202020217899023086234-23086411
206UBE3A150.998858447488583262825616088-25616090
207IVD150.9711163153786137128140698049-40698085
208CHST14150.9434129089301564113140763471-40763491, 40763498-40763540
209CDAN1150.9839847991313859368443028666-43028676, 43028694-43028719, 43029263-43029272, 43029278-43029289
210TTBK2150.997590361445789373543103913-43103921
211STRC150.999061561561565532843906085, 43909899, 43910867-43910869
212STRC150.995897435897448195044008020, 44009358-44009364
213DUOX2150.9834301700021577464745392416-45392422, 45393464-45393466, 45403413-45403429, 45403591-45403613, 45403664-45403686, 45403780-45403783
214GATM150.996069182389945127245670611-45670613, 45670616-45670617
215CEP152150.998590130916417496549076224-49076230
216TPM1150.99766081871345285563335998-63335999
217MAP2K1150.994923857868026118266679750-66679755
218CLN6150.922008547008557393668500483-68500490, 68502020-68502022, 68521840-68521855, 68521864-68521908, 68521918
219HEXA150.997484276729564159072668254-72668257
220HCN4150.83471760797342597361273614898-73614922, 73615404-73615405, 73615414-73615422, 73615467, 73615582-73615591, 73616150-73616161, 73659855-73659858, 73659863, 73659966-73659970, 73660002-73660003, 73660010-73660015, 73660029-73660064, 73660078, 73660081, 73660084, 73660093, 73660100-73660243, 73660253-73660386, 73660393-73660531, 73660549-73660611
221MPI150.998427672955972127275190070-75190071
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223RPS17150.9828431372549740882823387-82823393
224RPS17150.9828431372549740883207730-83207736
225POLG150.9954301075268817372089867346-89867356, 89876828-89876833
226MESP2150.80737018425461230119490319589, 90319620-90319625, 90319630, 90319708-90319715, 90319758-90319805, 90319845-90319851, 90319867, 90319874-90319878, 90319927-90319945, 90319956-90319958, 90319996-90320001, 90320011-90320030, 90320112, 90320126-90320143, 90320146, 90320161, 90320213-90320234, 90320250-90320264, 90320272, 90320278-90320281, 90320391-90320413, 90320474-90320492
227BLM150.9877762106252952425491337405-91337407, 91337440-91337447, 91337464-91337472, 91337476, 91337545-91337575
228VPS33B150.998921251348442185491542254, 91565397
229IGF1R150.9975633528265110410499192894-99192900, 99500586-99500588
230HBZ160.52447552447552204429202963-202970, 203934-203936, 203959-204040, 204056-204095, 204271-204272, 204279-204332, 204366-204379, 204399
231HBM160.997652582159621426216402
232HBA2160.69230769230769132429222930-222931, 222956-223004, 223168-223197, 223221-223231, 223309-223328, 223471-223490
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235IGFALS160.23343685300207148119321840601-1840671, 1840691, 1840703-1840706, 1840731-1840738, 1840759-1840865, 1840874-1840897, 1840922-1840929, 1840941-1841068, 1841088-1841185, 1841205-1841243, 1841265-1841320, 1841325, 1841342-1841406, 1841421-1841657, 1841667-1841740, 1841756-1841768, 1841806-1841808, 1841811-1841822, 1841828-1841836, 1841847-1841863, 1841867-1841869, 1841890-1842009, 1842018-1842147, 1842170-1842171, 1842175, 1842191, 1842197-1842210, 1842227, 1842235-1842292, 1842298-1842318, 1842329-1842334, 1842357-1842403, 1842417-1842485, 1842500-1842516, 1843638-1843653
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238PKD1160.003562577447335812866129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143005, 2143020-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144160, 2144176, 2144187-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185572, 2185580-2185690
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240MEFV160.991048593350382123463304217-3304219, 3304222-3304223, 3304411, 3304418-3304426, 3304451-3304455, 3304524
241SLX4160.9447774750227130455053632405-3632411, 3632514, 3632542-3632596, 3633127-3633139, 3633161-3633186, 3633259-3633283, 3633313-3633337, 3634797-3634800, 3639139, 3639265-3639274, 3639348-3639354, 3639453-3639462, 3639511-3639517, 3639566-3639571, 3639645-3639646, 3639767, 3639773, 3639988-3640003, 3640559-3640564, 3640726, 3640784, 3640831, 3642810-3642820, 3642843-3642866, 3644529-3644532, 3646155-3646157, 3646212-3646219, 3647415, 3647547, 3647562-3647566, 3647692-3647696, 3647825, 3651020, 3652162-3652168, 3656550-3656556
242CREBBP160.991949788511395973293778401-3778406, 3778440-3778442, 3778449-3778454, 3778629-3778646, 3778982, 3779470-3779483, 3929839-3929849
243GLIS2160.079365079365079145015754382293-4382316, 4382324-4382453, 4383348-4383403, 4383409, 4383422-4383492, 4383499-4383520, 4384807-4384811, 4384827, 4384832-4384918, 4384926-4384978, 4385061-4385194, 4385276-4385349, 4385362-4385367, 4385394, 4386726-4386757, 4386766-4387229, 4387237-4387525
244ALG1160.9096774193548412613955128814-5128820, 5128832-5128876, 5129066-5129068, 5129071, 5129082, 5129792, 5130959-5131000, 5131019-5131037, 5134813-5134819
245ABAT160.99667332002661515038870227, 8873354-8873357
246ABCC6160.78656914893617963451216244031-16244036, 16244481-16244482, 16244600-16244609, 16253353-16253367, 16255301-16255418, 16256853, 16256867-16256874, 16256900-16256909, 16256961-16257035, 16259480-16259568, 16259580-16259682, 16259713-16259790, 16263506-16263526, 16263542, 16263547-16263649, 16263669-16263693, 16263701-16263710, 16267141-16267195, 16267258-16267261, 16269775-16269784, 16269817-16269822, 16269829, 16269833-16269843, 16271309-16271321, 16271329, 16271337-16271376, 16271416, 16271422-16271452, 16271466-16271473, 16272689-16272694, 16272801-16272822, 16276700-16276701, 16276785-16276787, 16278822-16278840, 16278869, 16291930, 16291940-16291945, 16297407-16297427, 16317266-16317291
247UMOD160.996879875195016192320359868-20359872, 20359914
248OTOA160.998830409356734342021696659-21696662
249SCNN1B160.999479979199171192323391913
250COG7160.996973627323827231323436127-23436133
251CLN3160.9658314350797345131728497669-28497698, 28497707-28497719, 28498860, 28499038
252TUFM160.9356725146198888136828857335-28857345, 28857380-28857427, 28857562-28857590
253PHKG2160.9524979524979558122130760142-30760163, 30760177-30760212
254VKORC1160.99593495934959249231105977, 31105980
255FUS160.994307400379519158131191536-31191537, 31195271, 31195274, 31195279, 31195288, 31195292, 31195295, 31195675
256SLC5A2160.93313521545319135201931494530-31494535, 31499020-31499040, 31499373-31499378, 31499470-31499487, 31499804-31499805, 31499943-31499944, 31499972-31499976, 31500052-31500077, 31500201-31500209, 31500281-31500282, 31500447-31500478, 31500548-31500552, 31501747
257SALL1160.998490566037746397551175656-51175661
258RPGRIP1L160.998986828774064394853691380-53691383
259MMP2160.996469994957147198355513457-55513463
260SLC12A3160.9631425800194114309356899224-56899228, 56901094, 56901111-56901112, 56904606-56904609, 56906677, 56912012-56912015, 56912022, 56913098-56913100, 56913490, 56913495-56913505, 56913542, 56920876-56920883, 56920890, 56920917-56920934, 56921837-56921839, 56921861-56921862, 56921875-56921907, 56921927, 56921930-56921943
261COQ9160.99477533960293595757481420-57481422, 57481429-57481430
262GPR56160.998062015503884206457689348, 57689352-57689354
263TK2160.981601731601731792466583955-66583971
264HSD11B2160.83004926108374207121867465152-67465234, 67465247-67465348, 67465379-67465383, 67465400-67465416
265LCAT160.54799697656841598132367973807-67973808, 67973860, 67973866, 67973873-67973885, 67973918-67973954, 67973976-67974018, 67974034-67974061, 67974079, 67974088-67974157, 67974165-67974171, 67974181, 67974213, 67974240, 67974355, 67974381, 67976276, 67976281-67976296, 67976319-67976343, 67976373-67976381, 67976387-67976424, 67976453-67976490, 67976582-67976629, 67976646-67976659, 67976662, 67976764-67976784, 67976847-67976858, 67976878-67976879, 67976959-67977022, 67977058-67977060, 67977097-67977115, 67977864-67977912, 67977952, 67977960-67977962, 67977971-67977987, 67977990-67977998
266CDH3160.9807228915662748249068679563-68679567, 68679642-68679653, 68718696-68718698, 68721435, 68725736-68725761, 68725799
267CDH1160.997734994337496264968771348-68771352, 68771358
268CIRH1A160.999514798641441206169187560
269COG8160.9575856443719478183969364769-69364815, 69373138-69373142, 69373191-69373197, 69373212, 69373218, 69373226-69373235, 69373238, 69373325-69373330
270AARS160.999312005503962290770303538, 70303551
271GCSH160.902298850574715152281129754-81129776, 81129799-81129800, 81129811-81129817, 81129822, 81129839-81129841, 81129867-81129881
272GAN160.9927536231884113179481348737-81348741, 81348753, 81348795-81348801
273MLYCD160.88933873144399164148283932787-83932818, 83932899-83932900, 83932930-83932947, 83932979-83933009, 83933038-83933041, 83933071-83933125, 83933156-83933173, 83941806-83941809
274LRRC50160.999081726354452217884209864, 84209870
275FOXF1160.9517543859649155114086544211-86544213, 86544218-86544220, 86544232, 86544520-86544523, 86544652-86544658, 86544695, 86544935-86544940, 86544997-86545012, 86545143-86545152, 86546688-86546691
276FOXC2160.42496679946879866150686600942-86600943, 86600954-86600955, 86600998-86601069, 86601083-86601089, 86601102, 86601108-86601109, 86601112, 86601116-86601128, 86601164-86601169, 86601245-86601258, 86601297-86601303, 86601309-86601354, 86601363-86601409, 86601419-86601482, 86601494, 86601502, 86601505-86601531, 86601540, 86601544, 86601556-86601557, 86601586-86601624, 86601639-86601734, 86601774-86601840, 86601860, 86601864-86601882, 86601889, 86601912-86601918, 86601931-86601972, 86601982-86602017, 86602040-86602046, 86602066-86602089, 86602099-86602105, 86602153-86602264, 86602301-86602384, 86602398-86602404
277JPH3160.77481085892301506224787636868-87636916, 87637110-87637120, 87678052-87678067, 87678315-87678320, 87678439-87678441, 87678614, 87717809-87717826, 87717844-87717861, 87723267-87723273, 87723288-87723353, 87723424-87723452, 87723468-87723505, 87723526-87723587, 87723593-87723620, 87723666-87723700, 87723727-87723770, 87723828, 87723832-87723834, 87723838, 87723891, 87723910-87723954, 87723966-87723972, 87723977-87723990, 87724010-87724012
278CYBA160.1598639455782349458888709761-88709979, 88712524-88712563, 88712575-88712605, 88713163-88713200, 88713220, 88713231-88713246, 88713509-88713541, 88713552-88713553, 88713563-88713571, 88714453-88714484, 88714495, 88714509-88714522, 88717364-88717421
279APRT160.1197053406998247854388876106-88876167, 88876191-88876248, 88876478-88876556, 88876831-88876871, 88876908-88876958, 88877958-88878064, 88878228-88878307
280GALNS160.62014021669853596156988880847-88880868, 88880894-88880904, 88880923-88880933, 88884415-88884453, 88884463-88884532, 88888997-88889042, 88889089-88889118, 88891175-88891188, 88891231-88891267, 88893176-88893216, 88893222-88893237, 88898417, 88898432-88898435, 88901621-88901627, 88902193-88902195, 88902199, 88902236, 88902240, 88902256, 88902640-88902670, 88904036-88904061, 88904138-88904163, 88904171-88904173, 88907435-88907461, 88907464-88907468, 88907483-88907486, 88909114-88909118, 88909123, 88909169, 88909182, 88909200, 88909212-88909213, 88909216, 88923166-88923192, 88923201-88923226, 88923233-88923285
281SPG7160.9731993299832564238889574826, 89574833-89574836, 89574967-89574992, 89576898, 89623461-89623464, 89623466-89623493
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283TUBB3160.58758314855876558135389989810-89989846, 89989854-89989866, 89998979-89998984, 89998992-89998996, 89999045, 89999881-89999916, 90001144, 90001233, 90001236-90001238, 90001246-90001285, 90001382-90001388, 90001421-90001444, 90001511, 90001529, 90001571-90001617, 90001630-90001650, 90001669, 90001676-90001702, 90001711-90001769, 90001784-90001825, 90001832, 90001843-90001845, 90001878-90001914, 90001961-90001992, 90002001-90002020, 90002048-90002073, 90002129-90002165, 90002177-90002205
284PRPF8170.995861872146122970081587766-1587794
285CTNS170.6724854530340839412033550781, 3558352-3558359, 3559781-3559823, 3559829-3559856, 3559874-3559880, 3559977-3560089, 3561299-3561314, 3561332, 3561345-3561379, 3561396-3561398, 3561415-3561444, 3563170, 3563247-3563269, 3563530-3563534, 3563547-3563595, 3563911, 3563999-3564028
286CHRNE170.6673414304993349314824802077-4802122, 4802164-4802168, 4802185-4802186, 4802296-4802340, 4802356-4802402, 4802493-4802499, 4802513-4802563, 4802586-4802647, 4802660-4802663, 4802763-4802779, 4802786-4802807, 4804088-4804100, 4804125-4804135, 4804176, 4804184-4804192, 4804347-4804394, 4804420-4804461, 4804820-4804851, 4805252, 4805318-4805319, 4805596-4805621
287PITPNM3170.9162393162393224529256358675-6358714, 6358754-6358800, 6358829-6358834, 6358845, 6358925-6358957, 6367541-6367547, 6367552-6367557, 6367622-6367635, 6374580-6374582, 6376064-6376095, 6380478-6380490, 6381295-6381309, 6381342-6381346, 6381350, 6459705-6459726
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289CHRNB1170.99601593625498615067348462-7348466, 7348709
290MPDU1170.9973118279569927447490530-7490531
291GUCY2D170.991243961352662933127906373-7906384, 7906518-7906519, 7906662-7906664, 7906736, 7906762-7906771, 7906843
292HES7170.95575221238938306788024940-8024944, 8024994-8025018
293MYH8170.9975920192638514581410301896-10301902, 10303999-10304003, 10304011, 10304395
294MYH3170.999828267216211582310555814
295FLCN170.9798850574712635174017116985, 17116988, 17117101-17117104, 17131255-17131283
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297MYO15A170.7855187387897722721059318022224, 18022259-18022263, 18022299-18022301, 18022371-18022398, 18022458-18022475, 18022555-18022560, 18022595-18022611, 18022674-18022687, 18022701, 18022719-18022726, 18022876-18022883, 18022930-18022944, 18023000, 18023018-18023062, 18023160, 18023215-18023255, 18023282-18023283, 18023352-18023358, 18023400-18023406, 18023444-18023456, 18023481-18023495, 18023598-18023600, 18023603-18023644, 18023690-18023699, 18023711-18023777, 18023783-18023811, 18023833-18023914, 18023929-18024282, 18024295-18024777, 18024785-18024824, 18024838-18024884, 18024895-18024907, 18024933-18024993, 18024996, 18024999-18025009, 18025017-18025040, 18025048-18025130, 18025172-18025196, 18025314-18025328, 18025335-18025352, 18025376, 18025385-18025387, 18025398, 18025427-18025438, 18025592-18025600, 18025604-18025608, 18025658-18025688, 18027797-18027810, 18039966-18039969, 18039994-18040000, 18040932-18040939, 18043973-18043979, 18044975-18044980, 18045003-18045045, 18045393-18045394, 18045398-18045401, 18045432-18045435, 18045475, 18045544-18045550, 18046084-18046113, 18046142-18046149, 18046883-18046901, 18047029-18047053, 18047067, 18047079-18047086, 18047189-18047210, 18047235-18047253, 18047259-18047264, 18047295-18047308, 18049213, 18049217-18049219, 18049295-18049299, 18049304, 18049347-18049362, 18049366, 18051396-18051422, 18051475-18051477, 18052832-18052843, 18054424-18054447, 18057089-18057141, 18057167-18057170, 18057188-18057207, 18057477-18057488, 18058034-18058038, 18058043-18058045, 18058050, 18058629-18058630, 18058677-18058681, 18058736-18058746, 18061094-18061134, 18061170-18061176, 18064730, 18070940-18070945, 18070951-18070954, 18070966-18070984
298ALDH3A2170.999345121152591152719552354
299UNC119170.897648686030437472326879356-26879370, 26879413-26879447, 26879450-26879452, 26879507-26879511, 26879538, 26879541-26879547, 26879553-26879555, 26879562-26879566
300NEK8170.9788359788359844207927067873, 27067943, 27067946-27067978, 27067993-27067995, 27067998-27068003
301SLC6A4170.997886951928164189328543180-28543183
302NF1170.9974178403755922852029422328-29422329, 29422339-29422353, 29546115-29546119
303TCAP170.7559523809523812350437821969-37821975, 37822006-37822046, 37822100, 37822103, 37822149-37822160, 37822205, 37822208-37822230, 37822326-37822362
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373SLC5A5190.9725672877846853193217983412, 17984956-17984965, 17984970-17984999, 17985004-17985005, 17985011, 17985306-17985314
374IL12RB1190.9612870789341477198918179314-18179331, 18183055, 18187127-18187129, 18188359-18188373, 18188461-18188462, 18193061-18193062, 18197570-18197598, 18197618-18197624
375COMP190.91468777484609194227418893974-18893981, 18896533-18896549, 18896655-18896661, 18896804, 18899021-18899031, 18899034, 18899063-18899078, 18899110-18899120, 18899128, 18899313-18899323, 18899458-18899468, 18899490-18899502, 18899558-18899559, 18899715, 18900042-18900045, 18900763-18900772, 18900780-18900781, 18900785-18900801, 18900807-18900822, 18900915, 18901410-18901415, 18901665-18901678, 18901703-18901715
376CEBPA190.33240482822656719107733792264-33792267, 33792279, 33792306-33792347, 33792388-33792419, 33792428-33792455, 33792480-33792506, 33792517-33792556, 33792581-33792624, 33792628, 33792640, 33792686-33792728, 33792753-33792792, 33792802-33792835, 33792850-33793032, 33793054-33793071, 33793091-33793106, 33793129-33793219, 33793225-33793253, 33793276-33793320
377SCN1B190.950433705080554080735521725-35521764
378MAG190.9580010632642279188135790637-35790666, 35790695-35790699, 35791072-35791114, 35791157
379PRODH2190.995654872749847161136290999-36291005
380NPHS1190.998926462694584372636336621, 36336910, 36337068-36337069
381TYROBP190.781710914454287433936398143-36398146, 36398150, 36398367-36398381, 36398449-36398456, 36398655, 36398664, 36399072-36399115
382SDHAF1190.778735632183917734836486199, 36486210-36486233, 36486259, 36486283-36486302, 36486343-36486358, 36486395, 36486441-36486445, 36486516-36486524
383WDR62190.9798775153105992457236546015-36546016, 36549736, 36549739, 36572341-36572343, 36580184-36580195, 36581347-36581355, 36590508-36590519, 36591701-36591702, 36592998, 36595670, 36595714-36595739, 36595747-36595754, 36595785, 36595872-36595884
384RYR1190.956869749288886521511738931401-38931405, 38976657-38976658, 38976663, 38976712, 38980008, 38986921-38986927, 38987098-38987102, 38987502-38987509, 38987514-38987552, 39055605-39055634, 39055685-39055686, 39055702, 39055716-39055768, 39055775-39055866, 39055881-39055929, 39055932-39055935, 39055944-39055984, 39055992-39056031, 39056038, 39056057-39056091, 39056154-39056203, 39056206-39056236, 39056254-39056276, 39056293, 39056306-39056311, 39056319, 39056391-39056411, 39075599-39075637, 39075644-39075687, 39075721-39075735, 39076601-39076604
385ACTN4190.72587719298246750273639138493-39138500, 39138530-39138547, 39191749, 39191756-39191761, 39196745, 39207808, 39208613-39208630, 39208677-39208714, 39212277-39212285, 39212307, 39214254-39214275, 39214305-39214340, 39214358-39214361, 39214614-39214636, 39214680, 39214696, 39214830-39214889, 39214960-39214978, 39215071-39215104, 39215125-39215126, 39215158-39215165, 39215172, 39215179, 39215182-39215184, 39215187-39215205, 39216364-39216419, 39216472-39216491, 39216494, 39216517-39216525, 39216528, 39217609-39217646, 39217735-39217737, 39217741-39217742, 39218586-39218589, 39218595-39218599, 39218611, 39218623, 39218648-39218666, 39219636-39219754, 39219762-39219788, 39219914-39219943, 39219964-39220033, 39220060-39220061, 39220066-39220072
386DLL3190.8099084544965353185739989869-39989873, 39989980-39989994, 39993457-39993462, 39993479-39993484, 39993500, 39993511-39993519, 39993526-39993570, 39993576-39993577, 39993597-39993664, 39993672-39993685, 39994711-39994714, 39994778, 39994788, 39994818-39994820, 39994847-39994895, 39995870-39995878, 39995901-39995919, 39997707-39997751, 39997771-39997791, 39997852-39997861, 39998025-39998040, 39998084-39998085, 39998528-39998529
387PRX190.9977200182398510438640909613-40909614, 40909644-40909647, 40909726-40909729
388TGFB1190.9377664109121973117341837078, 41837090, 41837095, 41837099-41837106, 41838167-41838169, 41838172, 41854219-41854257, 41854300, 41858772, 41858828, 41858918-41858933
389BCKDHA190.99327354260099133841919988, 41928656, 41929010-41929015, 41930424
390ATP1A3190.9932028276237125367842470953, 42470960-42470981, 42480570-42480571
391ETHE1190.98431372549021276544012100-44012110, 44031290
392BCAM190.91891891891892153188745312382-45312463, 45317499-45317501, 45317506, 45317981, 45323962-45323967, 45323994-45324043, 45324070-45324079
393APOE190.98532494758911495445412030-45412037, 45412083-45412085, 45412249-45412250, 45412253
394BLOC1S3190.960591133004932460945682938-45682939, 45682942-45682943, 45682967-45682977, 45682983-45682987, 45683023, 45683027, 45683071-45683072
395ERCC2190.95137976346912111228345856392-45856394, 45867095-45867099, 45867116, 45867159-45867169, 45867268-45867316, 45867320, 45867323-45867335, 45867510-45867529, 45867779-45867780, 45868207-45868212
396SIX5190.86396396396396302222046268931-46268956, 46268974-46268981, 46269225-46269234, 46269311-46269313, 46269729-46269744, 46269872-46269900, 46270150-46270169, 46270181-46270186, 46270194-46270205, 46270261, 46271310-46271327, 46271391-46271395, 46271681-46271710, 46271725-46271729, 46271812-46271820, 46271835-46271861, 46271882-46271908, 46271935-46271942, 46271953-46271958, 46272032-46272054, 46272078-46272090
397DMPK190.92698412698413138189046273833, 46274272-46274275, 46274287-46274304, 46280636, 46281392, 46281404, 46281436-46281457, 46281864, 46281890-46281899, 46282607-46282617, 46285494-46285500, 46285538-46285584, 46285597-46285610
398FKRP190.80309139784946293148847258807-47258817, 47259047-47259082, 47259110-47259112, 47259148-47259155, 47259257-47259270, 47259358-47259362, 47259365, 47259377-47259407, 47259460-47259467, 47259479-47259516, 47259548-47259549, 47259554, 47259557-47259584, 47259632-47259686, 47259718-47259759, 47260035, 47260095, 47260167-47260174
399DBP190.4355828220858955297849134101-49134142, 49134179-49134199, 49134243-49134288, 49136838-49136844, 49136869-49136871, 49138837-49138920, 49138943-49139151, 49139160-49139247, 49140165-49140172, 49140182-49140220, 49140247-49140251
400BCAT2190.9864291772688716117949303068-49303072, 49303081-49303083, 49303087, 49303474-49303476, 49303493-49303495, 49310330
401GYS1190.94715447154472117221449484812, 49488769-49488775, 49494569, 49494575-49494582, 49494633-49494647, 49494698-49494740, 49496304-49496321, 49496331-49496353, 49496362
402MED25190.88146167557932266224450321599-50321631, 50321647-50321693, 50321836, 50332340, 50333168, 50333774-50333782, 50334085-50334091, 50334098, 50334106-50334109, 50334114, 50334120-50334125, 50335406-50335414, 50338307-50338308, 50338312-50338314, 50338412-50338434, 50338791-50338813, 50338831-50338834, 50338845-50338857, 50339041-50339044, 50339127-50339130, 50339177-50339195, 50339486-50339512, 50339539, 50339543, 50339547-50339549, 50339553, 50339574-50339580, 50339591-50339592, 50340104-50340112
403PNKP190.997445721583654156650368401, 50368408-50368410
404MYH14190.96514482081492213611150726568-50726573, 50747520-50747522, 50762414-50762444, 50764737-50764749, 50764780-50764892, 50766585-50766595, 50766614, 50766643-50766645, 50766652-50766665, 50770228-50770242, 50796884-50796886
405KCNC3190.6235708003518856227450823503-50823512, 50823515-50823518, 50823534, 50823545-50823546, 50823554, 50823563, 50823566-50823567, 50823584-50823606, 50826269-50826301, 50826353, 50826369-50826442, 50826453, 50826457, 50826463, 50826467, 50826554-50826566, 50826592-50826619, 50826674, 50826741, 50826862-50826904, 50831528-50831534, 50831580-50831585, 50831686-50831739, 50831742-50831744, 50831757, 50831759-50831831, 50831853-50832060, 50832078-50832339
406KLK4190.986928104575161076551412515-51412521, 51412664-51412666
407ETFB190.86551392891451140104151856391-51856406, 51856483-51856485, 51856510-51856541, 51857404-51857434, 51857471-51857494, 51857564-51857579, 51857655-51857660, 51857711, 51857752-51857759, 51857789-51857791
408NLRP12190.96986817325896318654301651-54301657, 54304506-54304510, 54304520, 54308550, 54312841-54312846, 54312907-54312908, 54313177, 54313181, 54313594-54313635, 54313658, 54313661-54313663, 54313680, 54313974-54313983, 54314025, 54314090-54314102, 54314468
409PRKCG190.93696275071633132209454392986-54393003, 54393207-54393208, 54393242-54393252, 54401760-54401770, 54401777-54401779, 54401787, 54401830-54401854, 54409609, 54409630-54409657, 54409975-54409985, 54410072-54410092
410PRPF31190.504744150054621692-54621699, 54621789, 54621983, 54625318-54625322, 54625876, 54625883-54625887, 54625900, 54625916-54625935, 54625955-54625957, 54626837-54626844, 54626876-54626918, 54627136-54627177, 54627185, 54627193, 54627198-54627200, 54627878-54627888, 54627917-54627925, 54627940-54627941, 54627943-54627979, 54628019-54628022, 54629903-54629958, 54629968-54629971, 54629977, 54629980, 54631448-54631453, 54631469-54631575, 54631680-54631698, 54631721-54631749, 54632432-54632539, 54632550-54632560, 54632647-54632745, 54634738-54634759, 54634769-54634771, 54634774, 54634793-54634863
411TSEN34190.8724544480171511993354695263-54695308, 54695328-54695383, 54695412, 54695451-54695458, 54695760, 54696093-54696099
412NLRP7190.9906872190109229311455445049-55445057, 55450831-55450844, 55451050, 55451076, 55451083, 55451232, 55451245, 55452846
413TNNT1190.88086185044369478955644283-55644284, 55644296, 55644311-55644328, 55645273, 55645289-55645295, 55645434-55645465, 55645477, 55645521-55645524, 55648493, 55649347-55649351, 55649354, 55652266, 55652281-55652288, 55652314-55652318, 55652633, 55658070-55658075
414TNNI3190.99671592775041260955665561, 55667687
415TPO20.8426124197002144128021481102-1481114, 1481148, 1481203-1481222, 1481292, 1481295, 1488483-1488489, 1488595-1488608, 1488617, 1497610-1497659, 1497698-1497708, 1497756-1497764, 1497776, 1499836, 1499840-1499851, 1499883-1499887, 1499927, 1500367-1500368, 1500408-1500411, 1500459-1500461, 1500464, 1500468-1500473, 1500478-1500479, 1507720-1507730, 1507764-1507779, 1507834-1507835, 1520655-1520754, 1544366-1544495, 1546211-1546217, 1546238-1546246
416KLF1120.9727095516569242153910183844-10183885
417MYCN20.9455197132616576139516082395-16082405, 16082448-16082474, 16082494-16082499, 16082616-16082618, 16082652-16082655, 16082686-16082687, 16082777-16082782, 16082813-16082815, 16082854-16082866, 16082967
418APOB20.99554484370435611369221265270-21265272, 21266755-21266766, 21266768-21266813
419POMC20.99129353233831780425384110, 25384464-25384469
420HADHA20.9882198952879627229226414415-26414441
421OTOF20.683850517183851895599426693485-26693489, 26694012-26694018, 26695436-26695442, 26695448-26695449, 26695455-26695457, 26695465-26695505, 26695515, 26696039-26696083, 26696097-26696123, 26696317-26696353, 26696413-26696428, 26696859-26696934, 26696957-26696978, 26697381-26697483, 26697498-26697515, 26697518, 26698243-26698250, 26698274, 26698277, 26698317-26698349, 26698357-26698361, 26698782-26698906, 26698996-26699046, 26699054-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700327, 26700349-26700374, 26700517-26700617, 26702138, 26702141, 26702160-26702196, 26702216-26702252, 26702341-26702521, 26703071-26703078, 26703090, 26703096, 26703100-26703102, 26703105-26703115, 26703118-26703121, 26703125-26703179, 26703658-26703843, 26705274-26705359, 26705382-26705389, 26705393, 26705419-26705444, 26705457-26705460, 26706331, 26706341, 26712079-26712082, 26712090-26712106, 26712138-26712144, 26712590-26712595
422C2orf7120.999741401603311386729295812
423SPAST20.996218260399787185132289216-32289222
424CYP1B120.79718137254902331163238301489-38301492, 38301763-38301768, 38301783-38301800, 38301930, 38301974-38302063, 38302117-38302120, 38302189-38302206, 38302228-38302276, 38302289-38302306, 38302310, 38302328-38302360, 38302387-38302428, 38302440-38302486
425SOS120.999750124937531400239283906
426ABCG520.9872188139059325195644055132-44055151, 44058991-44058995
427ABCG820.9643916913946672202244079505-44079509, 44099115-44099116, 44099143, 44099197-44099204, 44099234-44099245, 44099362-44099367, 44099386-44099388, 44099391, 44099429-44099436, 44099439-44099445, 44101549-44101552, 44101610-44101614, 44102355-44102356, 44102360-44102365, 44102369-44102370
428LRPPRC20.9971326164874612418544209477, 44223076-44223086
429SIX320.996996996997399945170032-45170034
430MSH620.9757531227038999408348010412-48010458, 48010493-48010509, 48010530-48010536, 48010538-48010553, 48010597-48010602, 48010625-48010629, 48032757
431NRXN120.999774011299431442550149348
432DYSF20.9861635220125888636071825789-71825795, 71827941-71827950, 71828652, 71838465, 71838597, 71839860-71839907, 71840526-71840534, 71847695-71847705
433SPR20.811704834605614878673114632-73114657, 73114670-73114675, 73114681-73114683, 73114716-73114755, 73114785-73114857
434ALMS120.99912028150992111250473613032-73613034, 73827996-73828002, 73828342
435MOGS20.94073190135243149251474689005-74689006, 74689165, 74689255-74689280, 74689352-74689358, 74689510-74689516, 74689949-74689952, 74691698-74691706, 74691833, 74692116-74692122, 74692261-74692309, 74692330-74692365
436REEP120.99174917491749560686564629-86564633
437EIF2AK320.96150402864816129335188926572-88926618, 88926711-88926792
438TMEM12720.973500697350071971796930966, 96930970, 96931069-96931078, 96931081, 96931084-96931087, 96931105-96931106
439ZAP7020.996774193548396186098340548-98340553
440CNGA320.9923261390887316208599013025, 99013028-99013038, 99013075-99013077, 99013658
441RANBP220.93943152454785869675109336113-109336134, 109347230-109347232, 109347317-109347341, 109347853-109347894, 109352023-109352029, 109352139-109352155, 109352188, 109357110-109357127, 109365376-109365383, 109365452-109365498, 109367729, 109367754, 109367841-109367847, 109368074-109368111, 109368352-109368387, 109368430-109368450, 109369945, 109370395-109370420, 109371399, 109371496-109371521, 109371656-109371678, 109371711-109371715, 109374952, 109378557, 109378598, 109382787-109382793, 109383051-109383058, 109383084-109383113, 109383204-109383233, 109383252-109383274, 109383354-109383360, 109383768-109383798, 109384466-109384485, 109384523-109384529, 109384609-109384652
442MERTK20.9973333333333383000112656321-112656327, 112740476
443PAX820.9992609016999311353113994196
444GLI220.950850661625712344761121555014, 121555018-121555025, 121708938-121708969, 121709008-121709012, 121712965, 121729533-121729544, 121729637, 121745824-121745831, 121745994-121746010, 121746087-121746097, 121746141-121746169, 121746188, 121746197-121746202, 121746238-121746250, 121746289-121746314, 121746448-121746450, 121746493-121746521, 121746588-121746612, 121747071-121747074, 121747108, 121747406
445BIN120.98484848484848271782127806116, 127806119-127806132, 127808076, 127808730-127808735, 127815054, 127815063, 127815077-127815078, 127827665
446PROC20.97041847041847411386128180666-128180677, 128180696-128180724
447CFC120.7514880952381167672131279058-131279062, 131280363-131280392, 131280413-131280458, 131280746-131280748, 131280766, 131280782-131280784, 131280787, 131280796-131280835, 131285304-131285340, 131285408
448MCM620.9975669099756762466136616943-136616948
449NEB20.996295183738867419974152432716-152432750, 152432817-152432824, 152432838-152432868
450HOXD1320.97868217054264221032176957678-176957699
451DFNB5920.9981114258734721059179319066-179319067
452TTN20.999730667943527100248179435137, 179435143, 179437693-179437703, 179438248, 179439348, 179443790-179443795, 179458493-179458498
453CERKL20.9981238273921231599182438532-182438533, 182468698
454CASP820.9975262832405741617202137468-202137471
455BMPR220.99422521655438183117203242256-203242266, 203378467, 203378544, 203384818-203384821, 203384828
456NDUFS120.99130036630037192184206997755, 207017186-207017191, 207018374-207018385
457ABCA1220.9998715973292217788215854182
458WNT10A20.97288676236045341254219745718-219745727, 219745763, 219757555-219757556, 219757675-219757687, 219757758, 219757762-219757765, 219757777, 219757878, 219757881
459DES20.929228591648971001413220283225-220283287, 220283631-220283637, 220283701-220283726, 220283735-220283738
460OBSL120.969249692496921755691220417302-220417303, 220417361-220417367, 220417386-220417419, 220417595, 220417607-220417608, 220417613, 220435388-220435405, 220435567-220435569, 220435586, 220435644-220435678, 220435736-220435766, 220435802, 220435812, 220435917-220435954
461COL4A320.98902852583283555013228029503-228029515, 228162421-228162424, 228163444-228163470, 228163476, 228163504-228163512, 228167756
462CHRND20.94079794079794921554233390927-233390967, 233391239-233391243, 233394649-233394656, 233394667-233394694, 233396273, 233396336, 233396342, 233396360, 233398659, 233398677, 233398791, 233398794-233398795, 233398798
463CHRNG20.9948519948519981554233409519-233409526
464COL6A320.99674847912733319534238244864-238244879, 238249292-238249306
465AGXT20.97540288379983291179241808406-241808413, 241808673-241808675, 241810766-241810768, 241810775-241810789
466D2HGDH20.936143039591321001566242674640-242674644, 242689609-242689627, 242689655-242689656, 242689682-242689684, 242689690, 242695357, 242695367, 242695413-242695424, 242707125-242707133, 242707204, 242707223-242707224, 242707228-242707230, 242707280, 242707301-242707335, 242707380-242707384
467AVP200.545454545454552254953063276-3063278, 3063318-3063448, 3063623-3063648, 3063666-3063692, 3063694-3063700, 3063773-3063781, 3063803-3063824
468PANK2200.948044366608298917133869794-3869797, 3869979-3869983, 3870034-3870040, 3870107-3870112, 3870122-3870124, 3870127, 3870132-3870144, 3870194-3870195, 3870246-3870264, 3870276-3870301, 3870363-3870364, 3870369
469FERMT1200.99655850540806720346100085-6100091
470MKKS200.9889083479276119171310386098-10386105, 10388282-10388291, 10389388
471JAG1200.9841400054689658365710653349-10653358, 10653469, 10653476-10653480, 10653490-10653491, 10653504, 10653576-10653580, 10653621, 10654117-10654147, 10654177-10654178
472SNTA1200.82608695652174264151832000566-32000573, 32031118-32031143, 32031155-32031191, 32031203-32031226, 32031239-32031293, 32031308-32031311, 32031317-32031426
473GSS200.9852631578947421142533530375-33530395
474GDF5200.9827357237715826150634022387, 34022400, 34022403, 34025095, 34025104-34025122, 34025180, 34025193, 34025369
475SAMHD1200.996278575225947188135545390-35545396
476HNF4A200.9726315789473739142543043184-43043197, 43052724-43052733, 43052773-43052775, 43052783-43052784, 43052821-43052830
477ADA200.9413919413919464109243254284-43254295, 43257688-43257715, 43257765-43257779, 43280234-43280242
478CTSA200.99398797595199149744520238-44520246
479SLC2A10200.995079950799518162645338376-45338379, 45354889-45354892
480GNAS200.985094850948511173857415182, 57415190-57415196, 57415327-57415328, 57415464
481GNAS200.9942196531791918311457429208, 57429647-57429650, 57429653-57429655, 57429683-57429690, 57429991-57429992
482COL9A3200.490997566909981046205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450587-61450589, 61450611-61450645, 61451281-61451326, 61451332, 61452556-61452568, 61452862-61452863, 61452867, 61453109-61453156, 61453463, 61453473-61453476, 61453493-61453500, 61453505-61453516, 61453973-61453974, 61453977, 61455797-61455853, 61456320-61456373, 61457173-61457176, 61457179-61457222, 61457556-61457609, 61458119-61458169, 61458594-61458623, 61459275-61459309, 61459322-61459328, 61460124, 61460128-61460134, 61460138-61460142, 61460275-61460286, 61460295, 61460308-61460324, 61460807-61460816, 61460834-61460851, 61460980-61461033, 61461118-61461125, 61461132-61461140, 61461143, 61461170-61461171, 61461718, 61461721-61461739, 61461742-61461765, 61461869-61461880, 61461895, 61461906-61461926, 61463511-61463533, 61464389-61464395, 61467287-61467290, 61467293-61467294, 61467297, 61467539-61467541, 61467551, 61467554-61467565, 61467572, 61467612-61467670, 61468487, 61468517-61468523, 61468530, 61468534-61468537, 61472001
483CHRNA4200.0498938428874731790188461978090-61978215, 61981005-61981019, 61981035-61981112, 61981119-61981124, 61981132-61981134, 61981155-61982256, 61982294, 61982304-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
484KCNQ2200.231767850324552012261962037997-62038101, 62038122-62038125, 62038130-62038132, 62038144-62038157, 62038166-62038441, 62038455-62038666, 62038685-62038728, 62039766-62039887, 62044814-62044823, 62044852-62044882, 62044900, 62044906-62044911, 62045441-62045451, 62045460, 62045465, 62045507-62045533, 62046274-62046280, 62046301-62046338, 62046347-62046394, 62046419-62046425, 62046432-62046434, 62046467-62046479, 62059730-62059788, 62062716-62062722, 62065192-62065221, 62069990, 62069997-62070008, 62070021-62070024, 62070030-62070045, 62070051, 62070060-62070062, 62070071-62070073, 62070951-62071061, 62073759-62073809, 62073832-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078175, 62078184, 62078190, 62103521-62103816
485SOX18200.0787878787878791064115562679519-62679600, 62679622-62679670, 62679707-62679785, 62679794-62679801, 62679810-62679900, 62679919-62680315, 62680512-62680869
486APP210.999567661046261231327542906
487SOD1210.98709677419355646533032133-33032138
488IFNGR2210.9023668639053399101434775850-34775922, 34793845-34793852, 34793884-34793886, 34793890-34793900, 34799244-34799245, 34799304-34799305
489RCAN1210.8642951251646910375935987165-35987232, 35987244-35987278
490CLDN14210.721672037833276-37833324, 37833340, 37833379, 37833433-37833438, 37833442, 37833450-37833452, 37833457, 37833471, 37833520-37833555, 37833562-37833578, 37833602, 37833605, 37833608, 37833612, 37833617-37833635, 37833678-37833717, 37833784, 37833797-37833822, 37833827-37833828, 37833831-37833834, 37833884, 37833937-37833938, 37833986
491TMPRSS3210.994871794871797136543796651, 43796654, 43805569, 43805573-43805576
492CBS210.89734299516908170165644474007-44474018, 44474032-44474037, 44474040, 44474045, 44474068-44474093, 44476913-44476914, 44476943-44476945, 44476948, 44476963, 44476989-44476991, 44478968, 44478991, 44478994-44478995, 44479045-44479074, 44479345, 44480597-44480605, 44485350-44485352, 44485597-44485600, 44485734, 44485740, 44485745, 44485750-44485753, 44486424-44486427, 44488687-44488696, 44492110-44492111, 44492142-44492177, 44492263-44492266
493AIRE210.170329670329671359163845705890-45705928, 45705935-45705962, 45705969-45706021, 45706446-45706467, 45706483-45706551, 45706588-45706603, 45706861-45706883, 45706941-45706993, 45707002-45707005, 45707007, 45707400-45707474, 45708228-45708328, 45709546-45709664, 45709675, 45709871-45709939, 45710978-45711093, 45712185-45712192, 45712201-45712207, 45712219-45712246, 45712250, 45712259-45712260, 45712283-45712284, 45712876-45713058, 45713672-45713675, 45713686, 45713698-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
494ITGB2210.6991341991342695231046306712, 46306721-46306768, 46306816, 46308608-46308627, 46308647-46308687, 46308705-46308716, 46308726-46308810, 46309201-46309209, 46309223-46309293, 46309300-46309343, 46309399-46309402, 46309893-46309955, 46309980-46309981, 46309986-46310005, 46310026-46310119, 46311737-46311786, 46311811-46311817, 46311870, 46311884-46311904, 46313319-46313331, 46313340-46313341, 46313371-46313374, 46319064, 46320252-46320253, 46320357-46320390, 46321445, 46326830-46326845, 46330263-46330282, 46330685-46330692
495COL18A1210.277302943969613805526546875460-46875461, 46875466, 46875476-46875518, 46875586-46875602, 46875625, 46875660-46875667, 46875676-46875714, 46875738-46875750, 46875769-46875793, 46875804-46875833, 46875840-46875878, 46875925, 46875928, 46875933-46875937, 46875940-46875941, 46875975-46875976, 46875980-46875981, 46876024-46876027, 46876062-46876065, 46876083-46876115, 46876145-46876199, 46876240-46876269, 46876276-46876279, 46876282, 46876285, 46876291-46876326, 46876349-46876350, 46876353-46876369, 46876409-46876422, 46876425-46876429, 46876447-46876484, 46876498-46876592, 46876604-46876736, 46876742-46876765, 46876781-46876795, 46888156-46888186, 46888200-46888273, 46888323-46888345, 46888369, 46888374-46888397, 46888477-46888583, 46888599-46888660, 46888690, 46888700, 46893853-46893873, 46895391-46895419, 46896265-46896269, 46896291-46896367, 46896373-46896394, 46897329-46897366, 46897664-46897675, 46897712-46897715, 46897775, 46897778, 46897781-46897789, 46897801, 46897815-46897855, 46897867-46897870, 46897875-46897876, 46898241-46898253, 46899816-46899823, 46899841-46899866, 46899984-46899985, 46900000-46900001, 46900068-46900070, 46900384-46900389, 46900403-46900434, 46900634-46900674, 46900699-46900732, 46901887-46901897, 46901902, 46901924, 46902722-46902729, 46906775-46906896, 46907361-46907387, 46907393-46907423, 46908332-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925052-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929418, 46929435-46929515, 46929978-46930175, 46931025-46931140, 46932102-46932312
496COL6A1210.601554907677361230308747401765-47401861, 47402548-47402677, 47404183-47404378, 47406455-47406485, 47406489, 47406496-47406503, 47406506-47406538, 47406553, 47406562-47406599, 47406858-47406986, 47407069-47407084, 47407413-47407433, 47407524-47407568, 47408998-47409014, 47409019-47409021, 47409043-47409050, 47409522-47409566, 47409666-47409691, 47410172-47410198, 47410292-47410316, 47410687-47410721, 47410737-47410740, 47410918-47410955, 47411924-47411926, 47412096-47412100, 47412277-47412305, 47412679-47412704, 47412717, 47412720, 47414081-47414102, 47414136-47414143, 47417386-47417392, 47417649, 47417652, 47417659-47417662, 47418035-47418044, 47418060-47418085, 47418315-47418338, 47418818, 47418827, 47418854-47418855, 47419076-47419083, 47419113, 47419116-47419117, 47419126-47419132, 47419571-47419585, 47419595, 47419600, 47419605-47419606, 47421204-47421205, 47421281, 47422535, 47423341-47423344, 47423483, 47423488, 47423499-47423523, 47423551, 47423555, 47423622, 47423718-47423723, 47423737, 47423821-47423822
497COL6A2210.377450980392161905306047531391-47531412, 47531429-47531460, 47531484-47531487, 47531893-47531905, 47531918-47531929, 47531933-47531934, 47531948-47531964, 47531973-47532046, 47532050-47532064, 47532072-47532076, 47532164-47532206, 47532247-47532323, 47532340-47532352, 47532404-47532415, 47532436, 47532439, 47532479, 47532485-47532491, 47533947-47533959, 47535823-47535839, 47535932-47535967, 47536291-47536308, 47536581-47536591, 47536684, 47536687, 47536710-47536714, 47536720-47536722, 47537314-47537343, 47537788-47537799, 47537811, 47537829-47537850, 47538528-47538535, 47538554-47538590, 47538944-47538979, 47539011, 47539015, 47539027-47539032, 47539702-47539764, 47540429-47540486, 47540975-47541027, 47541034-47541037, 47541470-47541514, 47542022-47542072, 47542410-47542416, 47542434-47542445, 47542789-47542851, 47544595, 47544598-47544606, 47544609-47544613, 47544799-47544834, 47545191-47545192, 47545200-47545203, 47545379-47545397, 47545522-47545523, 47545703-47545784, 47545807, 47545823, 47545826, 47545858-47545860, 47545871-47545884, 47545919-47545984, 47545992-47545995, 47545998-47546007, 47546010-47546015, 47546034, 47546046-47546056, 47546073, 47546087-47546145, 47546446-47546447, 47551868-47552466
498COL6A221034234247552183-47552524
499FTCD210.0024600246002461622162647556901-47556983, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
500PCNT210.978124063530122191001147786629-47786653, 47801730-47801737, 47817197, 47831458, 47836453, 47836502-47836514, 47836679-47836701, 47836751-47836753, 47841897-47841944, 47847630-47847636, 47847701, 47848437-47848468, 47848480-47848504, 47850119-47850132, 47850524-47850525, 47851833-47851835, 47855988-47855991, 47858232, 47863849-47863855
501PEX26220.98801742919391191818561178-18561188
502PRODH220.840820854132287180318900726, 18900750, 18900775, 18900806-18900838, 18900970-18900977, 18900985, 18901004, 18901029-18901039, 18904407, 18904414-18904415, 18904473-18904488, 18905899, 18907039-18907045, 18907251-18907252, 18908911-18908921, 18909902, 18910351, 18910628-18910636, 18912586-18912611, 18923528-18923573, 18923596-18923606, 18923617, 18923622-18923623, 18923626-18923636, 18923662-18923686, 18923718-18923752, 18923769-18923790
503GP1BB220.001610305958132162062119711093-19711102, 19711377-19711986
504TBX1220.61760752688172569148819747167-19747172, 19748428-19748599, 19748615, 19748620-19748626, 19748630-19748631, 19748637, 19748642-19748700, 19748704, 19748736-19748746, 19753340-19753348, 19753445-19753474, 19753498-19753525, 19753912-19753967, 19753972, 19753987-19754050, 19754103, 19754137-19754139, 19754184-19754212, 19754255-19754325, 19754336-19754352
505SMARCB1220.992227979274619115824175784-24175790, 24175832-24175833
506CHEK2220.91709256104486146176129083895-29083917, 29083924-29083965, 29085164-29085194, 29090020-29090057, 29091197-29091203, 29126408-29126412
507TCN2220.9618380062305349128431011588-31011603, 31022449-31022475, 31022500-31022505
508TIMP3220.99213836477987563633198006-33198010
509MYH9220.96838347781744186588336688085-36688105, 36688121, 36688223, 36689511-36689517, 36689813-36689826, 36690150, 36690984-36690992, 36692889-36692890, 36696173-36696191, 36696213, 36696221-36696231, 36696288-36696292, 36696910, 36696914-36696916, 36696927, 36696958, 36696964, 36697074-36697080, 36697587, 36698668-36698676, 36698686, 36700041-36700063, 36701995, 36702000-36702001, 36702006, 36702009, 36702028-36702029, 36702041, 36702046-36702062, 36702066, 36712639-36712656, 36716301, 36718550
510TRIOBP220.92476754015216534709838109224-38109229, 38109237-38109263, 38119745, 38119749-38119751, 38119754-38119757, 38119763, 38119771, 38119798-38119804, 38119879-38119905, 38120029-38120052, 38120176-38120178, 38120297-38120346, 38120429, 38120563, 38120666-38120679, 38121741, 38121769, 38121842, 38121852-38121863, 38121904-38121910, 38121938, 38122121-38122128, 38122144-38122162, 38122167, 38122195, 38122260, 38122309, 38122424, 38122428, 38122447-38122455, 38122462, 38122488-38122510, 38129316, 38129332, 38129376, 38129406-38129407, 38129411-38129418, 38130407-38130408, 38130430, 38130448-38130451, 38130454, 38130477, 38130627-38130639, 38130657-38130689, 38130823, 38130826-38130827, 38130859-38130871, 38130909-38130929, 38130940, 38130991, 38130994-38131001, 38131016, 38131036-38131038, 38131074-38131093, 38131219-38131263, 38131289-38131291, 38131336-38131341, 38131394-38131400, 38131437-38131438, 38136944-38136945, 38147779-38147790, 38150985-38150986, 38151170, 38153839-38153841, 38153905-38153948, 38154117-38154123, 38155235, 38165175
511SOX10220.9271948608137102140138373893, 38379383-38379387, 38379392-38379399, 38379415, 38379445-38379467, 38379500-38379506, 38379539-38379582, 38379595, 38379642, 38379652, 38379655, 38379670-38379675, 38379721, 38379724, 38379754
512PLA2G6220.03885480572597147048938508274-38508312, 38508511-38508584, 38509494-38509500, 38509509-38509717, 38509729-38509869
513PLA2G6220.59231722428748987242138508168-38508208, 38508215-38508239, 38508242, 38508258-38508312, 38508511-38508584, 38509494-38509500, 38509509-38509661, 38511534-38511688, 38512082-38512098, 38512108-38512146, 38512160-38512187, 38512195-38512218, 38516775-38516782, 38516796-38516840, 38516873-38516905, 38516912-38516916, 38519102-38519171, 38519183-38519258, 38524343-38524382, 38524408, 38524411, 38524414-38524425, 38525495-38525507, 38525552-38525569, 38528881-38528909, 38531062-38531068, 38531075-38531078, 38536068-38536073
514EP300220.998895790200148724541573917-41573924
515TNFRSF13C220.2252252252252343055542321371-42321380, 42321416-42321451, 42321470-42321477, 42321527-42321535, 42322105-42322335, 42322642-42322777
516CYB5R3220.960264900662253690643027442-43027456, 43045301-43045321
517TRMU220.72037914691943354126646731678-46731741, 46746288, 46746292, 46746307-46746320, 46746352-46746360, 46749674-46749677, 46749681-46749691, 46749725-46749740, 46749744-46749746, 46751341-46751347, 46751368-46751384, 46751387, 46751396, 46751401, 46751413-46751434, 46751443-46751485, 46751894-46751897, 46751942-46751969, 46752747-46752757, 46752783-46752810, 46752822-46752846, 46752859-46752863, 46752866-46752903
518ALG12220.9352419904567195146750298006, 50298141, 50301372, 50301502, 50301509, 50301563-50301580, 50303615-50303627, 50303632, 50303667-50303674, 50303706-50303708, 50303723-50303736, 50304122-50304123, 50304154-50304169, 50304172-50304177, 50307048, 50307133-50307135, 50307162-50307163, 50307283, 50307293-50307294
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620COL11A260.998848589522166521133140066-33140067, 33140137-33140140
621SYNGAP160.9826388888888970403233388042-33388108, 33411547-33411549
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687VLDLR90.97902364607175526222622204-2622254, 2622268-2622271
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692B4GALT190.999164578111951119733167111
693VCP90.9929781082197417242135072334-35072350
694FANCG90.996789727126816186935079231-35079236
695NPR290.998091603053446314435792423-35792428
696GRHPR90.985815602836881498737424945-37424958
697FXN90.99842022116904163371668107
698AUH90.994117647058826102094124106-94124111
699ROR290.9908192090395526283294495419-94495433, 94712212-94712222
700PTCH190.9868784530386757434498209510-98209529, 98270475-98270487, 98270588-98270610, 98270643
701FOXE190.813725490196082091122100616205, 100616211, 100616218-100616219, 100616227, 100616230, 100616261-100616262, 100616269-100616272, 100616275, 100616285, 100616290-100616293, 100616308-100616333, 100616336-100616355, 100616547-100616555, 100616626-100616639, 100616686-100616753, 100616763-100616765, 100616830-100616836, 100616871-100616896, 100617049-100617051, 100617135-100617149
702TGFBR190.97949735449735311512101867538-101867544, 101867554-101867569, 101867577-101867584
703DFNB3190.99339207048458182724117266929-117266933, 117266936, 117267008-117267019
704NR5A190.89610389610391441386127245055-127245062, 127255402-127255411, 127262445-127262451, 127262779-127262783, 127262819-127262823, 127262882-127262884, 127265358, 127265410-127265457, 127265486-127265495, 127265573-127265577, 127265602-127265604, 127265625-127265663
705LMX1B90.95084897229669551119129376798-129376799, 129376829-129376867, 129377677, 129377683-129377692, 129377777-129377779
706STXBP190.99172185430464151812130374683-130374696, 130374719
707ENG90.97723823975721451977130577969, 130577972-130577976, 130605476, 130616570-130616605, 130616623, 130616626
708GLE190.9966618979494572097131267139-131267140, 131296168-131296172
709DOLK90.9981447124304331617131708215-131708217
710TOR1A90.9889889889889911999132586354-132586364
711POMT190.97291092745638592178134394823-134394851, 134396753-134396758, 134397454-134397461, 134397572-134397586, 134398461
712SETX90.9998755290017418034135139901
713TTF190.99595290654893112718135277167-135277176, 135277341
714CEL90.653016292382217882271135937428-135937455, 135940128-135940134, 135940457-135940464, 135940529-135940543, 135940596-135940608, 135941978-135942025, 135944110, 135944186-135944220, 135944520-135944527, 135944583-135944589, 135945985-135946018, 135946400-135946421, 135946441-135946442, 135946446, 135946449-135946476, 135946495-135946497, 135946536, 135946568-135946596, 135946599, 135946624-135947120
715SURF190.87153931339978116903136220619-136220625, 136220733, 136221728-136221739, 136223124-136223155, 136223165-136223175, 136223277-136223329
716ADAMTS1390.6337535014005615694284136289462-136289489, 136289492-136289495, 136290691-136290697, 136291096-136291112, 136291161, 136291174, 136291343, 136291426, 136291454-136291465, 136293754-136293891, 136295059-136295085, 136295091-136295104, 136295110-136295158, 136295169-136295219, 136297711-136297739, 136297770-136297777, 136297787-136297789, 136297796-136297798, 136297806, 136298533-136298534, 136298543-136298557, 136298587, 136298605-136298609, 136298612-136298616, 136298627, 136298632, 136298803, 136298809-136298810, 136298813, 136298821, 136301949, 136301956, 136302017-136302068, 136302074-136302075, 136302917-136302920, 136302927, 136302970-136303011, 136303373-136303412, 136303444, 136303457, 136305561-136305573, 136305624-136305625, 136305628-136305637, 136305641, 136307520-136307530, 136307611-136307646, 136307755-136307780, 136307813-136307817, 136307841-136307842, 136307845, 136308534-136308536, 136308542, 136308550-136308551, 136308561-136308586, 136308608-136308654, 136308664-136308682, 136310001-136310043, 136310069-136310102, 136310143-136310173, 136310852-136310893, 136310912, 136310917, 136310921-136310930, 136313720-136313757, 136313780, 136313838-136313849, 136314918-136314925, 136314940, 136315028-136315045, 136315065-136315086, 136319561-136319579, 136319594-136319595, 136319674-136319722, 136320417-136320418, 136320421, 136320431, 136320454-136320456, 136320461, 136320465-136320468, 136320472, 136320478-136320480, 136320498-136320509, 136320520-136320552, 136320567-136320610, 136320618-136320646, 136320691-136320695, 136320724-136320725, 136321199-136321208, 136321211, 136321282-136321293, 136321312-136321337, 136321722, 136321725-136321726, 136321742-136321763, 136321769, 136321775-136321779, 136321782-136321806, 136323071-136323099, 136323113-136323130, 136323142-136323189, 136324096-136324105, 136324153, 136324157, 136324169-136324189, 136324193, 136324220-136324301
717DBH90.845199568500542871854136501558-136501568, 136505019, 136508660, 136513010-136513013, 136513055-136513056, 136513102-136513113, 136516758-136516862, 136516871-136516872, 136521645-136521658, 136521691-136521719, 136522213-136522214, 136522236-136522299, 136522323-136522349, 136523505, 136523520-136523531
718SARDH90.757344940152346692757136529011-136529014, 136529048-136529050, 136529082-136529121, 136531857-136531907, 136531925-136531926, 136531933-136531936, 136531949-136531992, 136535706-136535874, 136536657-136536819, 136550324, 136550344, 136550382, 136555511-136555536, 136555639-136555640, 136559380-136559407, 136559413-136559434, 136559471-136559493, 136568047-136568053, 136568094, 136568097-136568101, 136568106-136568114, 136570125, 136573412, 136573434-136573451, 136573501-136573506, 136577765-136577800, 136582570
719COL5A190.7504078303425813775517137534034-137534142, 137582758-137582781, 137582800-137582925, 137591755-137591810, 137591817-137591968, 137593017-137593179, 137622242, 137623453-137623454, 137623459, 137623508-137623509, 137630320-137630346, 137630625-137630637, 137642388-137642403, 137642418-137642462, 137642636-137642670, 137642679-137642728, 137644436-137644491, 137645696-137645749, 137646119-137646172, 137648611-137648645, 137648655-137648664, 137650113, 137650119-137650121, 137653780-137653812, 137653824, 137655539-137655583, 137657535, 137657544, 137658317, 137658322-137658324, 137658857, 137658867, 137659163, 137660256-137660263, 137660293-137660309, 137664636-137664671, 137666733-137666738, 137666741, 137666746, 137666757-137666758, 137671948-137671971, 137671983-137671992, 137674513-137674526, 137674534-137674544, 137676846-137676847, 137676873, 137676876-137676879, 137676897, 137677841-137677844, 137681027-137681030, 137688694-137688698, 137693800-137693804, 137694826-137694841, 137696852-137696868, 137697044, 137697049-137697050, 137698115-137698117, 137703338-137703343, 137703410, 137703421-137703435, 137704344, 137705829-137705839, 137708901-137708902, 137726827-137726833, 137726918-137726933
720LHX390.645161290322584291209139089180-139089198, 139089201, 139089280-139089297, 139089317-139089327, 139089330-139089346, 139089371-139089372, 139089375, 139089477-139089483, 139089498-139089542, 139089568-139089569, 139090533-139090541, 139090552-139090565, 139090568-139090570, 139090613-139090634, 139090764-139090809, 139090842-139090866, 139090873-139090905, 139091528-139091572, 139091630-139091640, 139091653-139091655, 139091673, 139094792-139094885
721INPP5E90.1674418604651216111935139324127-139324128, 139324154-139324159, 139324195-139324239, 139324729-139324758, 139324813, 139324818-139324819, 139324849, 139324855-139324856, 139324860-139324865, 139325486, 139325491, 139325502-139325517, 139325526, 139325530-139325531, 139325540-139325569, 139326276-139326437, 139326931, 139326954-139327038, 139327414-139327416, 139327420-139327436, 139327439, 139327443-139327448, 139327475-139327527, 139327608-139327611, 139327619-139327731, 139328489-139328586, 139329192-139329315, 139333060-139333174, 139333184-139333751, 139333757-139333871
722NOTCH190.05790297339593172247668139390523-139390627, 139390634-139390730, 139390757, 139390763-139390776, 139390785-139390798, 139390804-139390808, 139390817, 139390822-139390956, 139390982-139391129, 139391138-139391333, 139391344-139391377, 139391386-139391631, 139391646-139392010, 139393351-139393360, 139393366-139393374, 139393418-139393430, 139393564-139393600, 139393613-139393677, 139393704-139393711, 139395004-139395299, 139396200-139396327, 139396331, 139396341-139396365, 139396453-139396540, 139396724-139396735, 139396745-139396748, 139396758-139396940, 139397634-139397782, 139399125-139399330, 139399338-139399556, 139399762-139400127, 139400137-139400333, 139400979-139400988, 139400996-139401091, 139401168-139401373, 139401393-139401425, 139401757-139401808, 139401822-139401889, 139402407-139402475, 139402490-139402591, 139402684-139402837, 139403322-139403419, 139403433-139403523, 139404185-139404214, 139404228-139404351, 139404376-139404410, 139405105-139405224, 139405231, 139405241-139405257, 139405608-139405700, 139405719-139405722, 139407473-139407586, 139407844-139407866, 139407882-139407976, 139407985-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
723AGPAT290.087216248506571764837139568204-139568235, 139568241-139568268, 139568273-139568301, 139568304, 139568314-139568379, 139569187-139569258, 139571037-139571042, 139571046-139571057, 139571065-139571093, 139571099-139571122, 139571128-139571132, 139571413-139571499, 139571512-139571588, 139571875-139571993, 139572005, 139581628-139581718, 139581725-139581809
724SLC34A390.2722222222222213101800140126169, 140126202, 140126215, 140127034, 140127037-140127062, 140127091, 140127094, 140127109-140127111, 140127115, 140127138, 140127142-140127155, 140127236-140127278, 140127287-140127355, 140127372, 140127510-140127551, 140127661, 140127705-140127734, 140127743-140127807, 140127824-140127840, 140128085-140128166, 140128172-140128174, 140128315-140128391, 140128561-140128728, 140128868-140128984, 140129082-140129183, 140130408-140130650, 140130670-140130868
725EHMT190.810623556581997383897140513481-140513501, 140605419-140605482, 140611078-140611626, 140622848, 140622851-140622859, 140622927-140622930, 140669654-140669655, 140728859-140728866, 140728895-140728901, 140728952-140728976, 140729278-140729297, 140729347, 140729379-140729405
726SHOXX0.48122866894198456879591633-591909, 595353-595406, 595431-595531, 595538-595561
727CSF2RAX0.400766283524978213051401597-1401628, 1401634-1401655, 1404671-1404728, 1404746-1404813, 1407513-1407516, 1407735, 1409230-1409231, 1409251, 1409265-1409339, 1409345, 1409368, 1409393-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419425, 1419439-1419519, 1422154-1422255, 1422816-1422865, 1422901-1422912, 1424339-1424356, 1424380-1424412, 1424417-1424419, 1428299, 1428303
728ARXX0.9721728833629447168925031568-25031571, 25031574-25031593, 25031647-25031666, 25031777-25031779
729RPGRX0.83087597571552585345938144800-38144828, 38144961-38144968, 38145105-38145113, 38145182, 38145185, 38145218-38145228, 38145277-38145332, 38145349-38145618, 38145636-38145747, 38145828-38145833, 38145860-38145871, 38145890, 38145897, 38145921-38145949, 38145988-38145994, 38146003, 38146085-38146092, 38146376-38146395, 38146474-38146476
730ATP6AP2X0.998100664767332105340440318, 40440344
731NYXX0.9702627939142543144641332805-41332817, 41333161-41333162, 41333242-41333250, 41333359-41333366, 41333480-41333483, 41333545-41333550, 41333628
732ARX0.9920376402461122276366765159-66765177, 66766357-66766359
733EDAX0.999149659863951117669247799
734MED12X0.9975512702785416653470360648-70360650, 70361098-70361106, 70361112-70361115
735TAF1X0.9897923266455558568270586197-70586226, 70586290-70586317
736SLC16A2X0.996199782844737184273641398-73641404
737UPF3BX0.9972451790633641452118968894-118968897
738AFF2X0.9997459349593513936147582618
739FAM58AX0.9700680272108822735152864476-152864480, 152864483-152864485, 152864493-152864506
740SLC6A8X0.907756813417191761908152954030-152954051, 152954070-152954130, 152954140-152954197, 152954218-152954243, 152960312-152960320
741ABCD1X0.942806076854331282238152990733-152990744, 152990839-152990861, 152990890-152990895, 152990900, 152990990-152991005, 152991456-152991480, 153001862-153001868, 153002652-153002653, 153008722-153008729, 153009009-153009033, 153009151-153009153
742L1CAMX0.963434022257551383774153128264-153128267, 153128277-153128278, 153128283-153128284, 153128313-153128317, 153133275-153133285, 153133315-153133322, 153133329-153133330, 153134020, 153134024-153134025, 153134146-153134148, 153135261, 153135264-153135265, 153135546-153135564, 153135594-153135606, 153135631-153135637, 153135663-153135676, 153135843, 153135888, 153135891-153135892, 153135898-153135899, 153135902-153135905, 153136512-153136517, 153136600-153136603, 153137607-153137628
743MECP2X0.95791583166333631497153297869-153297876, 153363061-153363115
744OPN1LWX0.9981735159817421095153424291-153424292
745OPN1MWX0.92420091324201831095153453337-153453343, 153453474-153453496, 153458979-153459011, 153459066-153459083, 153461421-153461422
746OPN1MWX0.94063926940639651095153490458, 153490592-153490614, 153496097-153496117, 153496184-153496201, 153498539-153498540
747FLNAX0.8381168177240712867944153577396-153577404, 153578061-153578068, 153578207-153578212, 153578569, 153580322-153580325, 153580621-153580627, 153580957-153580958, 153581033-153581043, 153581369-153581376, 153581416-153581433, 153581734, 153581738, 153581741, 153581749-153581751, 153581778-153581788, 153582088-153582095, 153582585-153582596, 153582654-153582659, 153582850-153582851, 153583028-153583031, 153583059-153583070, 153583239-153583265, 153583373, 153585817-153585850, 153585882-153585901, 153586567-153586583, 153586610-153586614, 153586621-153586634, 153587372-153587379, 153587400, 153587403-153587422, 153587426, 153587691-153587729, 153587852-153587856, 153587966-153587981, 153587990-153587991, 153587994, 153588100-153588119, 153588139-153588145, 153588160-153588183, 153588186, 153588196-153588197, 153588207-153588214, 153588249-153588261, 153588365-153588376, 153588415-153588465, 153588535-153588543, 153588576-153588602, 153588640-153588662, 153588742-153588765, 153588804-153588817, 153588853-153588881, 153588918-153588933, 153589693-153589697, 153589702-153589704, 153589722-153589723, 153589726, 153589755-153589781, 153589839-153589842, 153589925-153589937, 153590082-153590093, 153590405-153590434, 153590504-153590516, 153590610-153590635, 153590659-153590670, 153590801-153590826, 153590847-153590852, 153590888-153590890, 153590893-153590908, 153591029-153591030, 153591040-153591051, 153592405-153592424, 153592462-153592468, 153592523-153592533, 153592629, 153592637-153592646, 153592933-153592943, 153593005-153593008, 153593563-153593569, 153593818, 153593821-153593834, 153594443-153594481, 153594676-153594679, 153594937-153594957, 153594968-153594973, 153595129-153595136, 153595183-153595195, 153595802-153595811, 153595909-153595912, 153596016-153596045, 153596092-153596095, 153596103, 153596106, 153596210-153596223, 153596334-153596342, 153596395-153596401, 153596448-153596458, 153599241-153599248, 153599357-153599370, 153599381-153599410, 153599431-153599444, 153599447, 153599477-153599499, 153599524-153599612
748EMDX0.82091503267974137765153607861-153607872, 153607884, 153607899-153607908, 153607922-153607926, 153608050-153608091, 153608148-153608152, 153608624-153608626, 153609128-153609140, 153609242-153609257, 153609292-153609293, 153609296-153609308, 153609318-153609320, 153609462-153609473
749TAZX0.9822560202788314789153640289, 153640519-153640531
750G6PDX0.99023199023199161638153760662-153760677
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SDHD-G12Shet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SEMA4A-R713Qhet unknown0.037Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
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
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
2APOB-S4338Nhomozygous0.802Unknown
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
2APOE-R176Chomozygous0.068Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5NOD2-R702Whet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5BLMH-I443Vhomozygous0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-F31Ihomozygous0.188Unknown
pathogenic
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
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC50-L121Fhomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PALB2-G998Ehet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-E672Qhet unknown0.024Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.952 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-Q559Rhet unknown0.135Unknown
not reviewed
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
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTMR2-E502Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GSTM1-K173Nhomozygous0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-S2255Ihet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-R212Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MAGEB6-R98Hhomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.766 (possibly damaging)
1MAGEB6-A100Vhomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL23R-Q3Hhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1IL23R-L310Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL23R-R381Qhet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
1CASR-R990Ghet unknown0.064Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
1CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1P2RY4-P352Thomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1P2RY4-I247Vhomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1P2RY4-N178Thomozygous0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1PCDHB16-R202Qhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
1PCDHB16-T482Ihomozygous0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1PCDHB16-Q638Hhomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ITIH5L-W1041Shomozygous0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
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
1USP21-P91Shomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging)
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
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-K349Ehet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-N1985Dhomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-L2004Fhomozygous0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-S2764Lhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-G3248Dhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-M3526Thomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCSK1-N221Dhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF204P-K6ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1COMP-N386Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
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
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COL6A2-E106Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1TTN-I23649Thomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E10146EVLPEEEEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G7623Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLC26A3-C307Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests
1MST1P9-A271ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OPN1MW-M153Lhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1PRODH-R431Hhet unknown0.080Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EP300-I997Vhomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EP300-Q2223Phomozygous0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-A796Thet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCP-SGHC766LGH*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPR143-R6LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CEP290-R557Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75SLX4-S383Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75SLX4-R204Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625WFS1-R227Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF236-S166Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF236-I613Vhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ACADL-T38Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM3-K215Nhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF708-H554Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZNF708-R130Qhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ZNF708-K113Ehet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ZNF708-A71Vhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFR2-R521Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5COL4A3-G43Rhomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTLL4-E34Qhet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.877 (probably damaging)
0.5TTLL4-Q47Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TRIM22-S244Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ICAM1-G241Rhet unknown0.075Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehomozygous0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF562-G141Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF562-E93Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5BCS1L-D210Nhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K2-S139Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K2-G132Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PGLYRP2-H464Yhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EMR2-K430*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MICALCL-R66Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICALCL-V70Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-Y93Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5MICALCL-A305Thet unknown0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-D369Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.813 (possibly damaging)
0.5OBSL1-R1767Qhomozygous0.420Unknown
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
0.5ZNF248-K218Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CEACAM5-A46Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging)
0.5CEACAM5-K398Ehomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CC2D2B-Q401Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.5KAZALD1-G236Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging)
0.5KAZALD1-G255Ahet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-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
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOGS-V62Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5RNF103-C658Fhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
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-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
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
0.5SLC3A1-F266Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NLRP12-F402Lhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5LRP1B-V4264Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP1B-Q3140Rhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP1B-Q48Rhet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5IRGC-D135Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5FCGBP-R4909Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FCGBP-N2089Dhomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5PPP1R15A-A32Thet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FUT2-G258Shomozygous0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD226-R171Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5TAS2R31-W281Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5TAS2R31-L237Fhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5TAS2R31-A227Vhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5TAS2R31-L162Mhet unknown0.687Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-V348Ahet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-Q111Ehet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-T57Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SERPINA9-A42Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TSHR-P52Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhet unknown0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPTB-R1403Qhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTB-H1374Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPTB-N1151Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTB-S439Nhet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5TRPM1-N1229Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-V605Mhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), 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
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MGA-P628Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGA-T716Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-P1523Ahomozygous0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5STRC-R1521Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACSM4-Q357*het unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HEBP1-E183Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
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-I2564Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-E3026Dhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.027 (benign), Testable gene in GeneTests
0.5SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT5-G543Shomozygous0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-S528Ghomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACAD10-A911Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TRAFD1-E303Ahet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYSLTR2-M201Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NIN-S1837Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NIN-G1320Ehet unknown0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIN-Q1125Phet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5JPH4-A504Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DIAPH3-P588Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-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-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhet unknown0.262Unknown
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
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD6-P105Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD6-T217Mhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.975 (probably damaging)
0.5CD6-A257Vhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD6-T539Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD6-G606Shet unknown0.181Unknown
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
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5CCR7-M7Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.364 (possibly damaging)
0.5OR1E1-A143Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH2-R2564Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH2-V2761Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5DNAH2-T3600Ihet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-Y4171Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH2-P4325Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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)
0.5F2-T165Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), 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
0.5LAMA1-L2144Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LAMA1-I2076Thet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-K2002Ehet unknown0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-A1876Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-I1659Vhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-S1577Ahomozygous0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.397 (possibly damaging)
0.5LAMA1-M1340Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5LAMA1-N674Thet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.167 (benign)
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM59A-I812Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM59A-K291Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-K307Nhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-D91Nhet unknown0.024Recessive
benign
Insufficiently evaluatedPrioritization score: 4
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
0.5SLC6A5-G102Shomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS5-L417Mhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNF157-G208Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TRAP1-R692Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.483 (possibly damaging)
0.5TRAP1-R307Ghet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRAP1-S259Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRAP1-R128Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-Q856Ghet unknownUnknown
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
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WHAMM-H736Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGBL1-R112Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5AGBL1-Q1010Rhomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA5A-R757Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5DLAT-E19Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-Q209Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OTOA-T785Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OTOA-E787*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5OTOA-Y806Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R913Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIM64-I58Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-R162Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q358Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q405Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5DYNC2H1-Q304Lhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.5DYNC2H1-K1413Rhet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-N1576Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UQCRC2-R183Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACAT1-A5Phomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDRGK1-R164Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-H-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-S2791Phomozygous0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-Y59Chomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-E196Khomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TMOD4-A222Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5NQO2-L47Fhet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NQO2-G58Dhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-LE1031RKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-E1037Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CASQ2-T66Ahomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPS8L3-M35Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q253Hhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D167Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOM3Z-R294Chet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-E1905Khet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S921Ahet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V203Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhet unknown0.141Unknown
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-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihomozygous0.248Unknown
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-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-Q152Hhomozygous0.407Unknown
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-D184Ehet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-I186Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSDMC-M475Thet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5COL23A1-R267Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-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
0.5AQP7-G264Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5AQP7-A188Thet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAB25-E20Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FBN2-M2311Vhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM154A-A422Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-K345Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-C313Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.087 (benign)
0.5FAM154A-P63Shomozygous0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-K27Ehomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-S453Lhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSPAN17-I140Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.945 (probably damaging)
0.5ZNF687-G116Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-T164Ihet unknown0.011Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5YIPF3-A5Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZCWPW1-T153Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DEM1-D115Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.158 (benign)
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5DEM1-G172Vhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGF-E304Khet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5LEPRE1-M549Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5AK097289-V20Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK097289-F90Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK097289-V92Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-H375Yhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-N333Ihet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-M120Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BSDC1-I234Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5TMEM54-L110Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-T246Mhet unknown0.025Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SDR16C6-T318Phomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-S221Thomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-L63*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5SYDE2-Q175Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NFKBIE-H95Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-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
0.5PKHD1-T579Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A7-I215Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
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-A8168Shet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-D1730Ehet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L885Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STK31-E261Khet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STK31-K268Nhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5STK31-R385Chet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.975 (probably damaging)
0.5STK31-N621Khet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.985 (probably damaging)
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LEPR-K109Rhomozygous0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC39-T182Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5RYR2-S1400Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATG7-V471Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging)
0.5ADSS-K226Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-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
0.5HPS4-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
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-S402Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S826Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBC1D5-I696Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBC1D5-Y375Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RETNLB-P20Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MINA-A386Thet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MINA-P201Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ARL13B-T348Shet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5EOMES-Q6Ehet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-V4433Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-I2106Thet unknown0.698Unknown
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-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), 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
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SDF2L1-R161Hhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SEC23B-V426Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC23B-H489Qhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5ARFGEF2-P57Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TGM6-M58Vhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TGM6-R448Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRFIP1-Q275Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRRFIP1-R690Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRFIP1-H783Dhomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DEFB126-M51Thet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.84 (possibly damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM65C-C566Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), 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
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-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
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTF1-R401Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5MTHFR-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
0.5MYLK-D914Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MYLK-L861Phet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-R845Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYLK-L496Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P147Shet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P21Hhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5INVS-G801Ehet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FCRLB-T32Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
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-Q471Hhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5OSMR-G578Dhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DARC-G42Dhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DARC-R89Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DARC-A100Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCG2-Q141Khet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.5TNK2-R1086Hhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ASPM-L2647Ihomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1658Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-A814Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP2B4-S1053Fhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5IQGAP2-V455Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-D527Ehomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-L629Fhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-I724Vhomozygous0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EIF2B5-I587Vhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-S159Ghomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5ITGA2-I173Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM175A-D373Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.899 (probably damaging)
0.5AGPAT9-R386Khet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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
0.5SVEP1-A2750Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-D2702Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SVEP1-L1648Vhomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhomozygous0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhomozygous0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-Q581Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SVEP1-G332Ahet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5SPATA18-I57Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5SPATA18-S227Phet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.375HSD17B4-A491Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375BRCA1-T1640Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLD1-E290Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.375PLCE1-V1334Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.375GBA-R241Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25CELA1-Q243Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Q10Hhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.463 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25C10orf79-I393Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf79-I304Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BAG3-C151Rhet unknown0.149Unknown
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
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-I188Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-M510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25C10orf113-D100HhomozygousUnknown
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
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CNST-L87Shomozygous0.885Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNST-S322Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-L15Phet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
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
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
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
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), 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
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MANBA-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
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK126213-M228Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK126213-R224Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-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)
0.25SLC2A9-P350Lhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25CRELD1-K7Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CRELD1-M13Vhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC4-E846Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC4-T525Ahomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AX747828-E96Khet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AX747828-A178Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CFTR-V470Mhet unknown0.607Unknown
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
0.25TRIP6-V230Ihet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.25TRIP6-R238Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25SCRIB-S1639Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCRIB-P422Lhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), 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
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA1-P423Hhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25PNPLA1-Y488*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PNPLA1-T490Mhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA1-S522Phet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC26A8-I639Vhet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.25SLC26A8-H572Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC26A8-S230Nhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.069 (benign)
0.25SLC26A8-I148Vhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.044 (benign)
0.25SLC26A8-R87*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC26A8-V73Mhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-A245Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK094715-D363Ghomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK094715-P419Shet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25AK094715-Y452*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGAX-T389Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGAX-P517Rhomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SMG1-S1651Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SMG1-E1308Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25KRT10-G126SFGGGFGGGShet 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
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25GUCY2D-W21Rhet unknown0.043Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.033 (benign), Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GEMIN4-R1033Chet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GEMIN4-Q1032*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GEMIN4-D929Nhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GEMIN4-A579Ghet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GEMIN4-Q450Ehomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BC020202-V100Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BC020202-V92Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-R287Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-Q292*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PABPC3-V293Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-T1660Ihomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SYNM-V271Ahet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SYNM-E1385Ghet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SYNM-Y1551Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SKOR1-R674Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SKOR1-P687Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25FSHR-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
0.25MCEE-A76Vhet unknown0.268Unknown
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
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25LENG9-R499Phet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LENG9-G490Ehet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25LENG9-H153Rhomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LENG9-F150Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LENG9-M1Khomozygous0.690Unknown
not reviewed
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
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), 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
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25C17orf54-A146ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF43-L418Mhet unknown0.371Unknown
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-I47Vhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIN3B-D522Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIN3B-D949Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0COL9A3-A559Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HFE-C282Yhet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0CLCN7-F466Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,742,593,865 bases (96.0% of callable positions, 89.0% of total positions)

Coding region coverage: 31,210,902 bases (93.8% of all genes, 94.9% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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