huA7E205 - GET-Evidence variant report

Variant report for huA7E205

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1UGT1A1-G71RModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.000743632This variant, also known as UGT1A1*6, is associated with Gilbert syndrome (found in ~5% of the population) and transient hyperbilirubinemia in infants in east asian populations. This allele appears to have incomplete penetrance and causes reduced enzyme activity.1
2MEFV-E148QModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0120929Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease.1
3PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
4DRD2-S311CLowLikelyLikely pathogenic

Dominant, Heterozygous
0.0168247Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average).1
5FCGR2B-I232TLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.132664A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.1
6CETP-A390PLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0388548This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl).1
7AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
8HFE-H63DLowUncertainUncertain pathogenic

Recessive, Homozygous
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
9WFS1-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
10SP110-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
11ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
12BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
13ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0609779This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.1
14rs1544410LowUncertainUncertain 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
15ABCC6-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
16CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
17PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
18KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
19IL7R-T244ILowLikelyLikely protective

Unknown, Homozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
20TGFB1-T263ILowUncertainUncertain protective

Dominant, Heterozygous
0.0205429Carriers may be less likely to have cleft lip and palate congenital deformity.1
21LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
22PRNP-E219KLowUncertainUncertain protective

Complex/Other, Heterozygous
Protection from sporadic Creutzfeldt-Jakob disease, possibly only in the heterozygous form.1
23NEFL-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
24CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
25OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
26MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
27APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
28GALT-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
29AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
30COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
31ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
32ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
33NTRK1-H604YLowUncertainUncertain benign

Unknown, Heterozygous
0.0431307Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.1
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
36TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
37NTRK1-G613VLowUncertainUncertain benign

Unknown, Heterozygous
0.0429448Also called G607V, this variant has been reported as a nonpathogenic polymorphism.1
38RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
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
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30484936 / 33282720 = 91.59%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.03844900619094259026138955553-955753, 957581-957652, 957664-957842, 970657-970704, 976045-976068, 976074-976260, 976553-976777, 976858-977082, 977363-977542, 978619-978674, 978690-978837, 978918-979112, 979203-979403, 979489-979637, 979714-979744, 979758-979819, 980541-980657, 980739-980903, 981113-981256, 981344-981468, 981540-981645, 981777-982115, 982200-982337, 982707-982755, 982764-982834, 982953-983043, 983063-983067, 983156-983275, 983392-983745, 984247-984439, 984616-984831, 984946-985072, 985082-985175, 985283-985383, 985408-985417, 985613-985709, 985807-985971, 986106-986217, 986633-986749, 986833-987025, 987110-987112, 987115-987187, 989136-989241, 989250-989306, 989323-989329, 989828-989924, 990213, 990219-990257, 990275-990361
2GABRD10.3303899926416591013591950863-1950930, 1956381, 1956408, 1956412-1956419, 1956457-1956478, 1956773-1956831, 1956957-1957080, 1957087, 1957091-1957136, 1957166-1957177, 1959016-1959046, 1959072-1959098, 1959622-1959628, 1959681-1959688, 1959714-1959717, 1960550-1960557, 1960566-1960705, 1960990-1961014, 1961020-1961069, 1961088-1961090, 1961100, 1961162-1961201, 1961422-1961449, 1961452, 1961457-1961532, 1961557-1961574, 1961580-1961581, 1961586-1961587, 1961598-1961654, 1961673-1961703, 1961705-1961712, 1961715
3PEX1010.455657492354745349812337236-2337252, 2337257, 2337270-2337272, 2337923-2337998, 2338004-2338005, 2338018-2338048, 2338159-2338203, 2338229, 2338243-2338275, 2338293-2338327, 2338333, 2339901-2339931, 2339995-2340021, 2340029, 2340045-2340047, 2340104-2340115, 2340128, 2340141-2340164, 2340174-2340231, 2340234-2340235, 2340264-2340266, 2340279, 2340294-2340297, 2341868-2341869, 2341872-2341879, 2343830-2343941
4NPHP410.9025928521373541742815923374, 5923377-5923389, 5923975, 5923979, 5923982-5923984, 5924424, 5925162-5925170, 5925173, 5925176-5925190, 5925251-5925258, 5925263, 5925285-5925300, 5925302-5925305, 5925315-5925316, 5925324, 5927124, 5934952, 5935037-5935070, 5935112-5935119, 5935134-5935160, 5937215, 5947358-5947364, 5947482-5947526, 5950997, 5951001-5951002, 5951010-5951011, 5951023-5951030, 5951033, 5951073, 6027408-6027414, 6029212-6029217, 6038330-6038473, 6046215, 6046221-6046224, 6046241-6046245, 6046248, 6046261-6046263, 6046284, 6046289-6046298, 6046331-6046349
5ESPN10.4916179337232130425656485016-6485309, 6488286-6488337, 6488367-6488401, 6488413-6488432, 6488464-6488467, 6488471-6488479, 6500364-6500365, 6500382-6500500, 6500686-6500868, 6500994-6500996, 6501029-6501076, 6501097-6501113, 6501125, 6504624, 6504645, 6505725-6505738, 6505779, 6505795, 6505817-6505818, 6505824, 6505836-6505855, 6505887-6505937, 6508719-6508723, 6508727, 6508730, 6508734, 6508748, 6508760-6508777, 6508809-6508903, 6508918-6508928, 6508935-6508988, 6509016-6509089, 6509142, 6511684-6511709, 6511735-6511743, 6511893-6511933, 6511972, 6512037, 6512040, 6512045-6512047, 6512050, 6512109, 6512127-6512156, 6517286, 6517289, 6520060-6520072, 6520131, 6520174-6520206
6PLEKHG510.57572906867357135331896527885-6527937, 6528001-6528002, 6528012-6528013, 6528016-6528022, 6528039, 6528076-6528079, 6528082, 6528102, 6528119-6528120, 6528131, 6528171-6528182, 6528219-6528261, 6528292-6528307, 6528330-6528331, 6528482-6528531, 6528557, 6529102-6529104, 6529107-6529135, 6529150, 6529166-6529168, 6529174-6529175, 6529183-6529195, 6529225-6529266, 6529289, 6529627-6529637, 6529657, 6529701-6529705, 6529708-6529710, 6529714, 6529718-6529719, 6529734-6529736, 6530306-6530320, 6530346-6530353, 6530411, 6530566-6530678, 6530689, 6530807, 6530811, 6530815-6530865, 6530904-6530930, 6531050-6531065, 6531088-6531160, 6531604, 6531612-6531614, 6531620-6531653, 6531687-6531697, 6531830, 6531837, 6531852, 6531860, 6531868, 6532614-6532674, 6533065, 6533072-6533085, 6533132-6533143, 6533150-6533153, 6533171-6533195, 6533332-6533420, 6533461-6533474, 6534073-6534080, 6534087-6534090, 6534108-6534110, 6534141-6534144, 6534149, 6534157-6534173, 6534186-6534204, 6534210-6534224, 6534511-6534512, 6534517-6534551, 6534570-6534647, 6535107-6535198, 6535522-6535552, 6535999-6536033, 6536066, 6537607-6537609, 6537613, 6537632-6537634, 6537644, 6537667-6537693, 6556553-6556617, 6556625-6556629, 6557380-6557383
7KIF1B10.999435347261433531310425489-10425491
8PEX1410.72574955908289311113410683081-10683082, 10683121-10683145, 10684420-10684464, 10687353, 10689643-10689677, 10689684-10689739, 10689818-10689821, 10689838-10689909, 10689934-10689938, 10689970-10689973, 10689983-10690044
9TARDBP10.9879518072289215124511082261, 11082356-11082362, 11082630-11082636
10MASP210.54876273653566930206111087071, 11087248, 11090896-11090919, 11094885-11094939, 11097760, 11097768-11097799, 11097811-11097826, 11097850-11097868, 11102932-11103079, 11103396-11103455, 11103461-11103592, 11105465-11105565, 11105586-11105596, 11106613-11106628, 11106655-11106723, 11106730-11106770, 11106788-11106790, 11106952-11106967, 11106973-11106981, 11106988-11107019, 11107023, 11107028, 11107032-11107039, 11107049-11107176, 11107260-11107264
11MTHFR10.93099949264333136197111853972-11853976, 11854005-11854021, 11854094, 11854105-11854107, 11854129-11854146, 11854803-11854804, 11854844-11854862, 11855234-11855269, 11860281, 11861238-11861252, 11861358-11861361, 11861374, 11861381-11861385, 11861391, 11863100-11863107
12PLOD110.9684065934065969218411994837-11994876, 11994903-11994912, 12008034, 12012724, 12023675-12023676, 12024340, 12024345-12024346, 12024349, 12026312, 12026316-12026320, 12026338-12026340, 12030759, 12030871
13MFN210.999560246262091227412069649
14CTRC10.99752168525403280715772227-15772228
15CLCNKA10.272286821705431502206416349116, 16349153-16349178, 16349184-16349201, 16350307-16350370, 16350385-16350397, 16351258-16351261, 16351360-16351381, 16352603-16352608, 16353031-16353038, 16353050-16353104, 16353194-16353196, 16353218-16353270, 16353805-16353836, 16353842-16353865, 16353885-16353930, 16354319-16354379, 16354513-16354530, 16354560-16354594, 16354599-16354612, 16355256-16355336, 16355621-16355794, 16356226-16356295, 16356460-16356570, 16356956-16357169, 16358205-16358207, 16358249, 16358263-16358287, 16358308-16358338, 16358698-16358786, 16358938-16358997, 16359017-16359021, 16359665-16359751, 16360106-16360153
16CLCNKB10.288275193798451469206416370988-16370989, 16370995, 16371015-16371017, 16371031-16371036, 16371062, 16371067, 16371080-16371084, 16372066, 16372079-16372080, 16372084-16372085, 16372088-16372152, 16372170-16372181, 16373030-16373080, 16373121-16373126, 16373148, 16373158, 16374413-16374417, 16374436, 16374460-16374485, 16374506-16374512, 16374523-16374526, 16374533, 16374838-16374849, 16374856-16374898, 16375018-16375030, 16375042-16375075, 16375615-16375675, 16375689-16375691, 16375695-16375712, 16375719, 16375723, 16375735-16375740, 16376118-16376125, 16376146-16376197, 16376310-16376329, 16376360, 16376363, 16376386-16376408, 16377011-16377095, 16377374-16377412, 16377437-16377543, 16377973-16378042, 16378205-16378223, 16378231-16378315, 16378693-16378906, 16380134-16380154, 16380166-16380267, 16381945-16382018, 16382170-16382190, 16382198-16382246, 16382253, 16382939-16382989, 16383364-16383380, 16383385, 16383400-16383411
17ATP13A210.83714366356195577354317312733, 17312736, 17312739, 17312764, 17312790-17312815, 17313006, 17313127, 17313341-17313360, 17313565, 17313585-17313620, 17313630-17313688, 17313694-17313718, 17314702, 17314831, 17314919, 17314929-17314933, 17314945-17314966, 17318264-17318291, 17318756-17318763, 17318875-17318881, 17320263-17320277, 17320284-17320285, 17322490, 17322494-17322527, 17322565-17322606, 17322633-17322659, 17322789-17322795, 17322884, 17322897-17322921, 17322947-17322991, 17323525-17323569, 17323580-17323582, 17323586, 17323607-17323608, 17323628, 17323637-17323639, 17323649-17323658, 17326511-17326513, 17326516-17326517, 17326520, 17326523, 17326605, 17326742, 17326967-17327010, 17331208-17331213, 17331230, 17331239, 17332268-17332273
18SDHB10.9988137603796184317350565
19ALDH4A110.84101654846336269169219199346-19199371, 19201059-19201062, 19203919-19203951, 19203967-19203973, 19203984, 19203997, 19204033-19204042, 19204047-19204049, 19204052, 19204061, 19208301, 19208305, 19208308-19208313, 19208333-19208335, 19209618-19209620, 19209660, 19209663-19209670, 19209675, 19209678, 19209682-19209683, 19209799-19209838, 19209882, 19211974-19212016, 19212092, 19215869-19215884, 19215893-19215898, 19215929, 19216506-19216539, 19216599, 19228958-19228959, 19228982-19228983, 19228987-19228989, 19228994-19228998
20ALPL10.9530158730158774157521887598-21887619, 21887627-21887629, 21889603-21889609, 21889644-21889645, 21889648, 21889707-21889708, 21890563-21890568, 21890595, 21890686-21890687, 21890692-21890702, 21900215, 21902344-21902346, 21902352-21902357, 21902361, 21902369, 21902410, 21903901, 21904011, 21904021-21904022
21HSPG210.8831208257437815401317622149814-22149827, 22149834, 22149854, 22149864, 22149871-22149893, 22149900-22149935, 22149944-22149945, 22149956, 22149961, 22149970-22149981, 22150117-22150118, 22150133, 22150140, 22150149, 22150172-22150212, 22150618-22150637, 22150640, 22150659, 22150677-22150678, 22150799-22150813, 22150827, 22150842-22150850, 22151030-22151057, 22151064-22151084, 22151091, 22151200, 22151228-22151272, 22154379-22154412, 22154583, 22154594-22154622, 22154632, 22154639, 22154643-22154645, 22154758-22154778, 22154782-22154788, 22154791, 22154797-22154802, 22154831, 22155359, 22155391, 22155395, 22155433-22155480, 22155547-22155549, 22155553-22155558, 22155951-22155955, 22155958-22155959, 22155975-22156012, 22156071-22156086, 22156096, 22156543-22156546, 22156549, 22156567, 22156574-22156577, 22156580-22156584, 22157546, 22159018-22159025, 22159030, 22159799-22159800, 22159803, 22159985-22159986, 22159989, 22160031-22160037, 22163357, 22163434-22163441, 22165347, 22165362, 22165430, 22165453, 22165910-22165917, 22165929, 22166497, 22167595, 22167611-22167643, 22167648-22167654, 22167677-22167691, 22168054, 22168087-22168125, 22168129-22168132, 22168519, 22168522-22168524, 22168573-22168575, 22168578-22168610, 22168826, 22168851, 22169381-22169386, 22169910-22169931, 22172632, 22172733, 22172947, 22172950-22172955, 22172994-22172995, 22173062, 22173066, 22173886-22173892, 22173926-22173932, 22173935, 22174284-22174303, 22174536-22174575, 22175232-22175234, 22175283-22175287, 22175507-22175509, 22176561-22176565, 22176676, 22176946-22176949, 22176975, 22178053, 22178057, 22178357, 22178360, 22178364, 22181205-22181207, 22181417-22181424, 22181445-22181446, 22181462, 22182048, 22186059-22186148, 22186328-22186362, 22186388-22186462, 22186489, 22186492, 22186671-22186708, 22188250, 22188254-22188262, 22188490, 22190630, 22191388-22191390, 22191523, 22191542-22191566, 22191818, 22192210, 22198775-22198780, 22198867-22198870, 22199122-22199163, 22199214-22199219, 22199230-22199232, 22199490-22199534, 22199550-22199556, 22200445-22200447, 22200936, 22206893, 22207001-22207018, 22207029-22207034, 22207048-22207051, 22207251-22207252, 22207307-22207312, 22207946-22207950, 22211098-22211119, 22211141-22211148, 22211163-22211167, 22211329, 22211358, 22211381-22211382, 22211558-22211559, 22211638-22211650, 22211813-22211841, 22211925-22211932, 22213737-22213743, 22213913-22213916, 22213968, 22214002-22214031, 22214054-22214076, 22214130-22214131, 22217108, 22217111-22217115, 22263648-22263710
22WNT410.88068181818182126105622446575-22446581, 22446620, 22446871-22446877, 22456121-22456128, 22456186-22456211, 22469339-22469415
23RPL1110.942271880819373153724019141-24019169, 24019208, 24019238
24HMGCL10.984662576687121597824134728, 24151862, 24151870-24151882
25FUCA110.9329050678087194140124194450-24194473, 24194501-24194503, 24194572-24194578, 24194610-24194611, 24194614, 24194632, 24194638-24194643, 24194654-24194661, 24194675-24194701, 24194705, 24194728-24194741
26LDLRAP110.943905070118665292725870191, 25870209, 25870234-25870277, 25881459-25881460, 25893434, 25893437, 25893454-25893455
27SEPN110.83093525179856282166826126722-26126904, 26131694-26131733, 26135149-26135153, 26135210, 26136203-26136204, 26136217-26136219, 26136270-26136310, 26138197, 26138304, 26138314, 26138317, 26138320, 26138353, 26139233
28YARS10.999369880277251158733252037
29KCNQ410.86063218390805291208841249766-41249827, 41249834-41249915, 41249921-41249945, 41249961-41250040, 41284248-41284257, 41284266, 41284293-41284303, 41284331-41284336, 41285023-41285029, 41285035-41285037, 41296970-41296973
30LEPRE110.9814563545906841221143212431, 43232345-43232377, 43232404-43232410
31POMGNT110.996469994957147198346662413, 46662481-46662486
32ORC110.95978344934261104258652838855, 52838892-52838919, 52839040-52839042, 52840545, 52840549, 52840557, 52840563-52840565, 52841130, 52841133-52841148, 52841151, 52841250-52841257, 52847314-52847315, 52849557-52849567, 52851524-52851544, 52854114, 52854118-52854122
33DHCR2410.9935525467440410155155352582-55352586, 55352788-55352792
34PCSK910.94901394901395106207955505552-55505553, 55505556-55505560, 55505700, 55505717, 55509555-55509556, 55518000-55518007, 55518073-55518084, 55521683-55521698, 55521708, 55521714, 55521720-55521722, 55521725-55521740, 55521749-55521751, 55521837-55521850, 55523028, 55523151, 55523876, 55523879-55523880, 55524188, 55524197-55524204, 55524264-55524267, 55524270, 55524273, 55524276
35ABCA410.99985341542071682294476444
36COL11A110.99706798607293165457103364248-103364263
37GSTM110.77016742770167151657110230496-110230531, 110230836-110230861, 110231708-110231715, 110231852-110231853, 110231933-110231935, 110232893-110232913, 110232981-110232983, 110232986-110232988, 110233091-110233102, 110233109, 110233121, 110233138, 110233147, 110235885-110235917
38VANGL110.9987301587301621575116226637-116226638
39NOTCH210.973840345199571947416120539665-120539714, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548104, 120572544-120572575, 120611960, 120611991-120612009
40PRPF310.99512670565302102052150305649, 150315887, 150325403-150325410
41FLG10.9304940095191284712186152276282-152276288, 152276441-152276447, 152276487-152276493, 152276580-152276631, 152276656-152276674, 152276696-152276729, 152276758-152276785, 152276845-152276892, 152277055, 152277084, 152277164-152277171, 152277345, 152277396, 152277713-152277720, 152277787-152277793, 152278083-152278096, 152278431-152278437, 152278665-152278692, 152279403-152279409, 152279642, 152279649, 152279726-152279763, 152279841, 152279848, 152280032, 152280147-152280176, 152280347, 152280468-152280474, 152280594-152280617, 152280682-152280694, 152280736, 152280759, 152280782, 152281039, 152281146, 152281228, 152281287-152281324, 152281476-152281483, 152281621-152281638, 152281687-152281710, 152281768-152281774, 152281948, 152281980-152281995, 152282119-152282125, 152282244-152282261, 152282293-152282294, 152282565-152282580, 152282862, 152283133-152283136, 152283236, 152283248-152283287, 152283407-152283433, 152283801, 152283862, 152283972-152283979, 152284140-152284175, 152284200-152284248, 152284302-152284308, 152284392-152284398, 152284478, 152284576, 152285019-152285025, 152285062-152285065, 152285096-152285131, 152285202-152285219, 152285302, 152285358, 152285480, 152285604, 152285653-152285654, 152285666, 152285877, 152285978-152285984, 152286032, 152286138, 152286142, 152286176-152286178, 152286181-152286182, 152286967, 152287870-152287879
42CHRNB210.98542080848244221509154544107-154544108, 154544222-154544223, 154544288, 154544389-154544398, 154544565-154544566, 154544633-154544637
43GBA10.98078529657477231197155184413-155184433, 155186729, 155186742
44GBA10.98137802607076301611155207980-155208009
45PKLR10.99072463768116161725155269944, 155269955-155269964, 155269991-155269994, 155270064
46LMNA10.9823633156966510567156105052, 156105811-156105813, 156105816, 156106154-156106157, 156106160
47LMNA10.98195488721805361995156105052, 156105811-156105813, 156105816, 156106154-156106157, 156106160, 156108288, 156108321-156108345
48NTRK110.916352990380592002391156830727-156830734, 156830752-156830825, 156830899-156830923, 156843440-156843471, 156843561, 156843680, 156843683-156843688, 156843691-156843696, 156845440-156845451, 156846257-156846258, 156846273, 156848923-156848926, 156848995, 156851315-156851324, 156851332, 156851375-156851390
49NDUFS210.9971264367816141392161176275-161176278
50SDHC10.994117647058823510161332221-161332223
51F510.99535580524345316675169510376, 169510380, 169510499-169510527
52SERPINC110.9964157706093251395173878916-173878920
53NPHS210.9973958333333331152179544788-179544790
54LAMC210.9977666108319483582183155488-183155495
55TNNT210.998873873873871888201338954
56REN10.99590499590551221204135386, 204135409-204135412
57PSEN210.9955456570155961347227071406-227071407, 227071468-227071471
58ADCK310.792695473251034031944227152720, 227152805-227152846, 227152876-227152922, 227153086-227153111, 227153373, 227169753-227169757, 227169770-227169817, 227169843-227169848, 227170607-227170641, 227170659, 227170662, 227170678-227170718, 227171266-227171275, 227171481-227171536, 227171795-227171808, 227171831, 227171914-227171936, 227172336-227172342, 227172955-227172972, 227174393-227174407, 227174429, 227174434-227174437
59GJC210.06893939393939412291320228345460-228345612, 228345633-228345648, 228345662-228345819, 228345822, 228345824, 228345827-228345833, 228345839-228345850, 228345862, 228345874-228346552, 228346576-228346776
60ACTA110.91975308641975911134229567837-229567855, 229567927-229567931, 229568072-229568119, 229568159-229568171, 229568330-229568333, 229568360-229568361
61GNPAT10.999021047479222043231401039-231401040
62NLRP310.9996785599485713111247582258
63NET1100.99609156895589717915454753-5454759
64GATA3100.99625468164794513358100728, 8100731-8100734
65PHYH100.9459193706981355101713341969-13342022, 13342042
66PTF1A100.624113475177337198723481497-23481532, 23481583, 23481623, 23481630-23481645, 23481652-23481674, 23481692-23481799, 23481805-23481811, 23481828-23481863, 23481878-23481913, 23481935-23481956, 23481993-23481999, 23482028, 23482041, 23482101-23482120, 23482140-23482191, 23482634-23482635, 23482784-23482785
67MASTL100.999620781190751263727462166
68RET100.91001494768311301334543572707-43572779, 43595968, 43596033-43596052, 43597956-43597963, 43597992, 43598001-43598004, 43598007, 43598068-43598077, 43600507-43600529, 43600559-43600583, 43600597-43600636, 43604614-43604626, 43604656-43604658, 43604662-43604671, 43606656, 43609004-43609009, 43609012-43609018, 43609036-43609050, 43609934, 43610001-43610002, 43610050, 43610140-43610141, 43615063-43615083, 43615188, 43615191-43615193, 43615547-43615553, 43617430, 43619244
69CHAT100.9844236760124635224750822350-50822368, 50822406-50822418, 50822518-50822520
70EGR2100.99790356394133143164573487-64573489
71NODAL100.9731800766283528104472201231-72201249, 72201328-72201336
72SLC29A3100.9621848739495854142873082615-73082618, 73082702-73082715, 73082781-73082801, 73115950, 73122219-73122232
73CDH23100.941825775656325851005673437344-73437390, 73439168-73439170, 73439185-73439187, 73439195-73439203, 73439207-73439211, 73442218, 73442229-73442249, 73447404-73447409, 73447453-73447476, 73455271-73455280, 73461779, 73461801-73461803, 73461894-73461907, 73462335-73462344, 73464668-73464679, 73464696, 73464730-73464742, 73464766-73464837, 73464850, 73464867-73464887, 73466657-73466664, 73466790-73466806, 73468883, 73468944-73468949, 73472460, 73490270-73490304, 73490307, 73490338-73490359, 73491884-73491889, 73491910-73491913, 73492112-73492114, 73494007-73494011, 73500624, 73500636-73500663, 73501500, 73501544-73501546, 73501574-73501576, 73501624-73501630, 73537532-73537534, 73550099-73550118, 73550162-73550170, 73567162, 73567302, 73569784-73569790, 73571107-73571117, 73571145-73571181, 73571189-73571192, 73571712-73571723, 73574843, 73574860-73574864, 73574903-73574940, 73575019-73575025
74MAT1A100.997474747474753118882036158-82036160
75LDB3100.84432234432234340218488428451-88428470, 88428474-88428482, 88428493-88428494, 88441318-88441353, 88441437-88441443, 88451794-88451795, 88466293-88466304, 88466336-88466358, 88466379-88466393, 88466396, 88466398-88466399, 88466403-88466411, 88466414, 88469705-88469711, 88469772, 88469789-88469800, 88469807, 88476084-88476098, 88476102, 88476106, 88476119-88476136, 88476161, 88476175-88476178, 88476202-88476233, 88476256-88476259, 88476284, 88476287, 88476324-88476343, 88476392-88476406, 88476431-88476434, 88476449-88476451, 88476462-88476473, 88476497-88476528, 88477794, 88477808-88477818, 88478499, 88478552, 88478583, 88478586
76BMPR1A100.9868667917448421159988683402-88683408, 88683463-88683476
77GLUD1100.9588550983899869167788854372-88854373, 88854382, 88854425-88854457, 88854476-88854508
78PLCE1100.999855261253441690996076365
79HPS1100.96438746438746752106100177334-100177335, 100177361-100177432, 100177961
80CPN1100.9978213507625331377101802265-101802267
81C10orf2100.9990267639902722055102748354-102748355
82FBXW4100.9967715899919341239103372147-103372148, 103454284-103454285
83HPS6100.97723367697594532328103825389, 103825392, 103825436-103825447, 103825487-103825505, 103825715-103825716, 103825805-103825811, 103826033-103826034, 103826058, 103826215-103826219, 103826997-103826999
84SUFU100.9945017182130681455104263959-104263960, 104389867-104389872
85CYP17A1100.98231827111984271527104590459, 104590691, 104592353-104592354, 104592426-104592428, 104592432-104592433, 104592790, 104595042-104595043, 104595086-104595100
86COL17A1100.9988874054294654494105793976, 105816788, 105816914-105816916
87HABP2100.998217468805731683115341850-115341852
88BAG3100.93692129629631091728121411197-121411243, 121411271, 121432076, 121436128, 121436264-121436266, 121436444-121436451, 121436454, 121436497-121436505, 121436611, 121436658-121436664, 121436726-121436755
89HTRA1100.831600831600832431443124221169-124221204, 124221212, 124221221-124221244, 124221294-124221407, 124221448-124221453, 124221484-124221485, 124221511-124221513, 124221517, 124221523-124221529, 124221561-124221596, 124221622, 124221627-124221631, 124266232-124266238
90OAT100.9946969696969771320126086530-126086536
91UROS100.997493734335842798127477437-127477438
92HRAS110.50350877192982283570532636-532656, 532692-532730, 532748-532755, 533453-533480, 533496-533502, 533556, 533567-533577, 533808-533895, 534237-534243, 534250-534322
93TALDO1110.608481262327423971014747482-747484, 747490-747512, 747535-747578, 755911, 755982-755993, 756002, 758965, 760156-760157, 763344-763489, 763500-763501, 763513-763519, 763832-763867, 763887-763944, 764288-764314, 764363-764372, 764396-764397, 764816-764836, 764845
94SLC25A22110.020576131687243952972791915-792068, 792142-792217, 792304-792458, 792553-792727, 792870-792988, 793529-793580, 793588-793591, 793595-793619, 794458-794499, 794510-794513, 794776-794901, 794987-795006
95PNPLA2110.2772277227722810951515819719-819905, 821634-821659, 821667-821669, 821706-821759, 821771-821772, 821806, 821961-821975, 821988-821991, 822001-822013, 822471-822521, 822550-822560, 822587-822591, 822594, 823527-823587, 823694-823705, 823736-823741, 823753-823761, 823783-823855, 823998-824088, 824096-824130, 824314-824436, 824523-824605, 824620-824622, 824637-824862
96CTSD110.2703793381759590412391774747-1774900, 1775038-1775052, 1775058-1775088, 1775127-1775131, 1775225-1775242, 1775260-1775368, 1778554-1778557, 1778584-1778595, 1778599-1778637, 1778645-1778652, 1778671-1778688, 1778713-1778736, 1778740-1778745, 1778761-1778786, 1780204-1780255, 1780263-1780317, 1780746-1780825, 1780835-1780869, 1782539-1782628, 1782636, 1782645-1782698, 1785022-1785089
97TNNI2110.517304189435342655491861459-1861468, 1861633-1861674, 1861758-1861814, 1861823-1861829, 1861838-1861862, 1861869, 1861882, 1862049-1862095, 1862102-1862111, 1862138, 1862261-1862268, 1862292-1862306, 1862340-1862379, 1862698
98TNNT3110.172458172458176437771944785-1944802, 1946329-1946346, 1947925-1947939, 1950354-1950373, 1951040, 1951049-1951058, 1953721-1953739, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955784, 1955803-1955804, 1955814-1955840, 1955867-1955885, 1956059-1956148, 1958193-1958217, 1958228-1958233, 1959668-1959722
99H19110.6946778711484632710712017188, 2017363, 2017535-2017548, 2017551-2017558, 2017598, 2017627, 2017638, 2017748-2017771, 2017786-2017847, 2017857, 2017871, 2017874, 2017903-2017923, 2017945-2017956, 2017964, 2018001-2018004, 2018050, 2018077, 2018110-2018120, 2018150-2018153, 2018158-2018163, 2018166-2018176, 2018216-2018243, 2018252-2018312, 2018342-2018374, 2018378, 2018413-2018428
100IGF2110.0337552742616036877112154217-2154386, 2154392-2154453, 2154747-2154895, 2156597-2156648, 2156654-2156702, 2156717-2156759, 2161365-2161526
101TH110.016507936507936154915752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189330, 2189342-2189380, 2189384, 2189394-2189409, 2189721-2189892, 2190880-2191101, 2191920-2192000, 2192927-2193016
102KCNQ1110.6238306253077376420312466329-2466706, 2466713-2466714, 2549162-2549173, 2591866-2591930, 2591961-2591984, 2592555-2592608, 2593243-2593258, 2593281-2593282, 2593318-2593336, 2594138-2594174, 2604667-2604680, 2604725-2604748, 2604769-2604771, 2606497, 2606523-2606531, 2608800-2608851, 2608917-2608921, 2610042-2610061, 2790137, 2798243, 2869105-2869128, 2869215
103CDKN1C110.0431125131440599109512905234-2905306, 2905348-2905364, 2905900-2906719
104SMPD1110.990506329113921818966411931-6411948
105KCNJ11110.9880647911338414117317408916-17408929
106ABCC8110.9871470712178761474617498252-17498287, 17498296-17498298, 17498302-17498323
107USH1C110.999629629629631270017522626
108PAX6110.999211977935381126931815255
109WT1110.78507078507079334155432456378-32456384, 32456411-32456453, 32456484-32456523, 32456585-32456598, 32456603-32456605, 32456615-32456768, 32456802-32456866, 32456884-32456891
110ALX4110.992718446601949123644286462, 44286466, 44286667, 44286675, 44286708-44286709, 44286712, 44286715, 44286731
111SLC35C1110.9649621212121237105645827422-45827436, 45827446, 45827452, 45827458-45827466, 45827731-45827733, 45827833-45827834, 45827843-45827845, 45832656-45832658
112PEX16110.85110470701249155104145931665-45931672, 45931717-45931728, 45932449-45932454, 45935384, 45935436-45935477, 45935684-45935693, 45935714-45935729, 45935867-45935870, 45935921-45935950, 45937362-45937375, 45939253-45939260, 45939302, 45939311-45939313
113F2110.93044408774746130186946741321, 46744730-46744751, 46744978, 46745011-46745051, 46745065, 46747510, 46747518, 46747531, 46747616, 46747619-46747627, 46747631, 46748083-46748102, 46748117-46748123, 46748336, 46749567-46749587, 46750344
114MADD110.999595469255662494447306501, 47306532
115MYBPC3110.91895424836601310382547353623, 47353722, 47354143-47354149, 47354157-47354169, 47354749, 47357428-47357436, 47357450, 47360130-47360139, 47364135-47364141, 47364182, 47364197, 47365162-47365168, 47367758-47367764, 47367796-47367797, 47367842-47367845, 47367887-47367888, 47368986-47368996, 47369450, 47370049-47370050, 47370076-47370077, 47370081-47370088, 47371346-47371350, 47371449-47371452, 47371459, 47371472-47371473, 47371586-47371620, 47371651-47371654, 47372059-47372062, 47372065-47372108, 47372118-47372142, 47372163-47372166, 47372804-47372826, 47372889-47372906, 47372933-47372956, 47372993, 47373005-47373006, 47373030, 47374184-47374198
116SLC39A13110.81362007168459208111647431728, 47431757-47431776, 47431818-47431858, 47433477-47433487, 47433544, 47433547-47433548, 47433897-47433905, 47434978-47434981, 47435021-47435041, 47435161-47435164, 47435979-47435993, 47436004, 47436023, 47436422-47436429, 47436433-47436460, 47436593-47436609, 47436620-47436621, 47436839-47436860
117RAPSN110.6319612590799456123947459526-47459566, 47460283-47460326, 47460346, 47460362, 47460371-47460377, 47460386-47460482, 47462710, 47462751, 47462757, 47463181, 47463185-47463186, 47463189, 47463195, 47463212, 47463228-47463229, 47463262-47463285, 47463375-47463381, 47463406-47463430, 47463450-47463454, 47463468, 47464208-47464228, 47464280-47464283, 47464288-47464290, 47469434-47469451, 47469486-47469523, 47469588-47469596, 47469701-47469702, 47470329-47470351, 47470427-47470474, 47470486-47470511
118SDHAF2110.98602794411178750161213536-61213542
119ROM1110.87405303030303133105662380762-62380833, 62380891, 62381059-62381061, 62381064-62381067, 62381106, 62381117-62381125, 62381229-62381264, 62382261-62382267
120BSCL2110.9913606911447112138962470003-62470014
121SLC22A12110.41095066185319979166264359044-64359047, 64359083-64359088, 64359100-64359106, 64359115-64359138, 64359147-64359152, 64359155-64359209, 64359255-64359303, 64359322-64359337, 64359349-64359381, 64359418-64359430, 64360251-64360337, 64360877-64360887, 64360923-64360956, 64360966-64360997, 64361005, 64361026-64361031, 64361125-64361170, 64361176-64361242, 64361254-64361259, 64365988-64366000, 64366006-64366013, 64366017-64366026, 64366046-64366076, 64366288-64366296, 64366305-64366312, 64366346-64366395, 64367148-64367335, 64367347-64367362, 64367839-64367865, 64367906-64367940, 64367946-64367947, 64368230-64368287, 64368305, 64368308, 64368312, 64368398-64368410, 64368960-64368962, 64369004-64369005
122PYGM110.93633847370502161252964521007-64521051, 64521061-64521064, 64521150, 64521414, 64521769-64521770, 64522768-64522771, 64522976, 64525269-64525296, 64527128-64527160, 64527171-64527175, 64527198-64527220, 64527331-64527344
123MEN1110.85876623376623261184864571853, 64571978-64571983, 64571999, 64572004, 64572011-64572013, 64572018, 64572087-64572135, 64572170, 64572177, 64572239-64572241, 64572286, 64572557-64572561, 64572579, 64572598-64572634, 64573107-64573108, 64573114-64573144, 64573200, 64573217-64573242, 64573750, 64573806-64573808, 64575024-64575037, 64577222-64577228, 64577277, 64577327-64577329, 64577348-64577357, 64577383-64577384, 64577391, 64577394, 64577448-64577452, 64577493-64577495, 64577509-64577542, 64577546, 64577552, 64577559, 64577569-64577570
124EFEMP2110.9669669669669744133265635354-65635361, 65635423, 65635498, 65636002-65636007, 65638645, 65639767, 65639776-65639789, 65639813-65639824
125CST6110.926666666666673345065779718, 65780299-65780303, 65780367, 65780377-65780402
126BBS1110.997755331088664178266278151-66278154
127SPTBN2110.839955388261541148717366453472-66453482, 66455642-66455652, 66456168-66456175, 66457604-66457645, 66457690, 66457702, 66457743, 66460704-66460707, 66460820, 66463748-66463750, 66463753-66463754, 66463757-66463759, 66463775, 66463922-66463923, 66466463, 66467997-66468016, 66468036-66468040, 66468049-66468050, 66468067-66468085, 66468112-66468113, 66468116, 66468122, 66468126-66468128, 66468137-66468152, 66468155-66468156, 66468194-66468242, 66468258-66468296, 66468306-66468335, 66468361, 66468370-66468371, 66468377, 66468391-66468420, 66468440-66468457, 66468489-66468495, 66468503-66468545, 66468558, 66468573-66468596, 66468705, 66468724-66468753, 66469066-66469070, 66469114-66469132, 66469137-66469138, 66472069-66472074, 66472144, 66472170-66472175, 66472225-66472227, 66472247-66472268, 66472283-66472289, 66472299, 66472305, 66472312, 66472331, 66472404-66472410, 66472453, 66472502-66472503, 66472544, 66472562-66472636, 66472658-66472663, 66472666, 66472671, 66472689-66472726, 66472750-66472761, 66472771, 66472834-66472843, 66472848-66472860, 66472918-66472927, 66473165, 66473191-66473193, 66473261-66473280, 66475015, 66475065, 66475075, 66475084-66475170, 66475183-66475222, 66475236-66475289, 66475612-66475657, 66475672, 66475677, 66475691-66475699, 66475712, 66475744, 66475760-66475770, 66476420-66476443, 66476487, 66478065-66478071, 66478082, 66478117, 66478120, 66478123, 66478129-66478130, 66478183, 66478234-66478240, 66478440, 66481120-66481124, 66481810-66481811, 66481815, 66481822, 66481828-66481839, 66481845, 66482739-66482740, 66482820, 66482832-66482834, 66482838-66482842, 66483306, 66483315-66483341, 66483350, 66483365-66483388, 66483396-66483440
128PC110.86796720384507467353766616500-66616519, 66616790-66616797, 66616819-66616820, 66617196-66617203, 66617239-66617272, 66617328-66617330, 66617575, 66617579-66617585, 66617713-66617714, 66617931-66617934, 66618232-66618263, 66618330-66618347, 66618375-66618379, 66618520, 66618525-66618531, 66618583-66618587, 66618664-66618672, 66619965-66619975, 66620011-66620024, 66620060-66620079, 66620112-66620118, 66620124-66620131, 66620218-66620220, 66620747-66620750, 66631249-66631261, 66631337-66631354, 66633658-66633696, 66637808-66637812, 66637857, 66637865-66637876, 66638330-66638336, 66638560-66638569, 66638595-66638619, 66638802-66638829, 66638853-66638862, 66638929-66638951, 66639178-66639204, 66639230-66639232, 66639495-66639497, 66639506, 66639570-66639576, 66639629-66639630
129CABP4110.6388888888888929982867222910-67222922, 67222949-67222951, 67222956, 67222998-67223038, 67223081-67223141, 67223146, 67223205-67223217, 67223243-67223253, 67223814-67223823, 67223894-67223913, 67225116-67225153, 67225842, 67225870, 67225882-67225884, 67225896-67225926, 67225930-67225933, 67225950-67225989, 67226108-67226114
130AIP110.2467270896273974899367250717-67250725, 67254489-67254526, 67254572-67254592, 67256738-67256926, 67257509-67257685, 67257787-67257867, 67257880, 67257893-67257928, 67258259-67258419, 67258430-67258464
131NDUFV1110.994982078853057139567374495-67374501
132NDUFS8110.1943127962085351063367799619-67799632, 67799658, 67799668-67799676, 67799755-67799762, 67799766-67799803, 67800390-67800396, 67800410-67800478, 67800586, 67800602-67800609, 67800613-67800626, 67800639, 67800643-67800644, 67800656-67800670, 67800677-67800691, 67800701-67800714, 67800718-67800750, 67803720-67803848, 67803929-67804060
133TCIRG1110.527878058563981177249367808739-67808776, 67808809-67808812, 67808815-67808818, 67808845-67808855, 67809220-67809250, 67809279-67809281, 67810115-67810155, 67810169-67810229, 67810242-67810310, 67810413-67810445, 67810451-67810498, 67810838-67810853, 67810864-67810931, 67810955-67810964, 67811038-67811041, 67811051-67811053, 67811066-67811077, 67811080, 67811083, 67811106-67811120, 67811287-67811374, 67811613-67811664, 67811687-67811689, 67811715-67811726, 67811732, 67811747-67811811, 67812442, 67812484-67812506, 67812509, 67812520-67812522, 67812531-67812569, 67814902-67814913, 67815028-67815039, 67815185-67815188, 67815192-67815195, 67815198-67815201, 67815204, 67815237, 67815247-67815252, 67815262, 67815351, 67815394-67815396, 67815407-67815410, 67816346-67816363, 67816394, 67816397-67816407, 67816414-67816416, 67816549, 67816552-67816554, 67816563-67816566, 67816571-67816572, 67816574-67816601, 67816637-67816641, 67816646-67816648, 67816710, 67816729-67816761, 67817130-67817151, 67817160, 67817183, 67817187-67817191, 67817195-67817224, 67817230-67817255, 67817429-67817434, 67817462, 67817604-67817634, 67817668, 67817683-67817685, 67817706, 67817712, 67817972-67818038, 67818093-67818131, 67818252-67818266
134LRP5110.82508250825083848484868080183-68080273, 68115705, 68125268, 68125276, 68131216-68131232, 68131235-68131240, 68131253-68131274, 68131285-68131308, 68131339-68131369, 68131379-68131411, 68133042, 68133096, 68153796-68153798, 68153804-68153814, 68153860, 68153909, 68153916-68153919, 68154041, 68154074, 68154077, 68154091-68154114, 68171013, 68171026, 68171146-68171152, 68174083-68174085, 68174088, 68177547-68177561, 68178957, 68179068-68179078, 68181373, 68181411, 68183821, 68183986, 68192631-68192634, 68201173-68201174, 68201184-68201189, 68201193-68201204, 68201221, 68201226, 68201247, 68201261-68201262, 68201267-68201269, 68201297-68201306, 68204357-68204361, 68204366-68204373, 68204402-68204425, 68204438-68204454, 68204459, 68205944-68205995, 68206005-68206033, 68206086-68206087, 68207300, 68207308-68207384, 68213920-68213994, 68216289-68216331, 68216341-68216484, 68216495-68216497, 68216534-68216538
135IGHMBP2110.95875251509054123298268671428, 68696729-68696737, 68696749-68696752, 68696758, 68696792-68696799, 68700819, 68700888, 68700918-68700920, 68701285, 68701322-68701323, 68701347-68701349, 68701356, 68701948, 68702790-68702800, 68702880-68702890, 68704079-68704093, 68704101, 68704140-68704147, 68704293, 68704395-68704400, 68704403-68704404, 68704410, 68704533-68704535, 68705729-68705733, 68705748-68705749, 68705751-68705758, 68707147-68707150, 68707189, 68707192-68707199
136DHCR7110.91666666666667119142871146447, 71146490-71146502, 71146528-71146529, 71146536, 71146561-71146566, 71146569, 71146622-71146678, 71146682, 71146691, 71146788-71146792, 71146857, 71146861-71146872, 71146878-71146879, 71148869-71148871, 71148886, 71149932, 71149935, 71149982-71149991
137MYO7A110.609657039711192595664876853858, 76853861-76853862, 76858844-76858851, 76858862-76858960, 76858988-76858996, 76867108-76867110, 76867134-76867137, 76867730, 76867769-76867800, 76867955-76867959, 76867997-76868033, 76868040, 76869422, 76871249-76871275, 76873181-76873197, 76873255, 76873329, 76873339, 76873348-76873354, 76873927-76873928, 76874014-76874023, 76877102-76877103, 76877130-76877136, 76877185, 76877189, 76877192, 76883797-76883885, 76883895-76883931, 76885802-76885960, 76886431-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895638, 76895646, 76895653-76895695, 76895705-76895760, 76900394-76900422, 76900438-76900515, 76901065-76901068, 76901082-76901184, 76901742-76901915, 76903100-76903146, 76903149-76903150, 76903170-76903234, 76903243-76903323, 76905410, 76908526-76908529, 76908554-76908562, 76908601-76908625, 76909572, 76909576, 76909593-76909594, 76910590-76910592, 76910693-76910698, 76912636, 76912655-76912662, 76913397, 76916525, 76919836, 76919841-76919848
138FZD4110.998760842627012161486666102, 86666123
139DLAT110.9994855967078211944111896386
140DRD2110.98573573573574191332113281449-113281455, 113295114-113295115, 113295119, 113295122-113295130
141APOA1110.79601990049751164804116706525-116706535, 116706540-116706542, 116706589-116706594, 116706606-116706648, 116706671-116706675, 116706710-116706756, 116706796, 116706798, 116706844-116706875, 116706928-116706935, 116708095-116708101
142FXYD2110.9452054794520524438117693048-117693058, 117693255, 117693398-117693399, 117695383-117695392
143SCN4B110.988355167394478687118023356-118023361, 118023367-118023368
144SLC37A4110.9990636704119911068118898460
145TECTA110.99489559164733336465120983893-120983903, 120984381-120984394, 120989318-120989325
146ROBO3110.9995193463109824161124735624, 124738934
147WNK1120.98964890194433747149862905-862959, 862973-862975, 862982, 863337-863351
148CACNA1C120.994665447340343565612676750-2676754, 2676758, 2676911-2676913, 2676923-2676924, 2676928, 2676930-2676945, 2794934-2794940
149VWF120.9796256811182217284426122647-6122650, 6125338-6125344, 6127532-6127538, 6127919, 6127943, 6128064-6128087, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166030, 6166033, 6166037-6166041, 6166044-6166045, 6166055-6166057, 6166078-6166086, 6166106-6166127, 6166170, 6166198, 6166217-6166222, 6167198, 6172131, 6174317, 6174359-6174364, 6230362-6230363
150TNFRSF1A120.992690058479531013686438607-6438615, 6438775
151SCNN1A120.99679926840421721876457360, 6458383-6458387, 6483817
152TPI1120.94666666666667407506976731-6976735, 6976747-6976757, 6976811, 6976827-6976830, 6976845, 6979461-6979478
153ATN1120.99748110831234935737045892-7045894, 7050165-7050170
154CDKN1B120.99832495812395159712871099
155PKP2120.999602227525861251433049478
156COL2A1120.95340501792115208446448371388-48371393, 48372127-48372155, 48372414-48372434, 48372503-48372510, 48373307-48373309, 48373312-48373314, 48374339-48374374, 48374402, 48374417, 48374420, 48374431, 48374721-48374751, 48375560-48375576, 48375893, 48377512-48377519, 48379511-48379517, 48381404, 48386673, 48389687-48389690, 48391436-48391437, 48391440-48391443, 48391952-48391961, 48393848-48393854, 48398057-48398060, 48398073
157MLL2120.946912242686898821661449420680-49420682, 49421877-49421884, 49424146-49424160, 49424169, 49425179-49425183, 49425724, 49425727-49425731, 49425736-49425737, 49425770-49425799, 49426140-49426166, 49426361, 49426365-49426377, 49426484-49426486, 49426521-49426523, 49426561-49426590, 49426730-49426732, 49426735-49426736, 49426787, 49426798-49426799, 49426906-49426908, 49426914-49426918, 49427047-49427059, 49427072, 49427083-49427126, 49427196-49427223, 49427245-49427246, 49427265-49427280, 49427311-49427323, 49427509, 49427544-49427564, 49427631-49427632, 49430956-49430957, 49431027, 49431146, 49431188-49431230, 49431262-49431283, 49431286-49431314, 49431343-49431350, 49431376, 49431445-49431460, 49431465-49431472, 49431476-49431477, 49431517-49431635, 49431731-49431770, 49431780-49431784, 49431814, 49431830, 49431843, 49431849, 49431856-49431866, 49431870, 49431873-49431899, 49431958, 49431961-49431974, 49432005-49432012, 49432042, 49432068-49432070, 49432135-49432147, 49432274-49432280, 49432506-49432510, 49432555-49432577, 49432604, 49432607-49432610, 49432707-49432709, 49433081-49433092, 49433102-49433105, 49433245-49433255, 49433292-49433342, 49433373-49433379, 49433660-49433667, 49433733-49433738, 49433746, 49433749-49433753, 49433777-49433780, 49434039-49434071, 49434074-49434075, 49434080, 49434279-49434282, 49434935, 49434944-49434945, 49435222-49435223, 49437554
158DHH120.99832073887492119149484109, 49488167
159TUBA1A120.98245614035088845649522213, 49522386, 49522445, 49522455-49522457, 49522468, 49522624
160AQP2120.899509803921578281650344614, 50344617, 50344727, 50347960-50347963, 50349187-50349191, 50349294-50349331, 50349354-50349385
161ACVRL1120.999338624338621151252308357
162KRT81120.84914361001318229151852683898-52683899, 52683961-52683978, 52684020-52684062, 52684883-52684927, 52684956, 52685065-52685100, 52685133-52685195, 52685217-52685237
163KRT86120.92676249144422107146152695742-52695743, 52695767-52695803, 52696026, 52696038-52696046, 52696893-52696934, 52696984-52696996, 52702194-52702196
164KRT83120.9844804318488523148252714754-52714765, 52714792-52714802
165KRT6B120.9663716814159357169552841338-52841344, 52844243, 52844246, 52844265, 52845528-52845534, 52845598-52845604, 52845662-52845687, 52845798-52845804
166KRT6C120.9439528023598895169552865903, 52865906, 52865918, 52865925, 52867168-52867218, 52867257-52867263, 52867321-52867346, 52867457-52867463
167KRT6A120.9769911504424839169552886708-52886714, 52886772-52886796, 52886908-52886914
168AAAS120.90310786106033159164153701275-53701281, 53701332-53701338, 53701375-53701424, 53701662, 53701863-53701864, 53702097-53702102, 53702221, 53702309-53702312, 53702558, 53702593, 53708091, 53708134-53708135, 53708145-53708178, 53708213, 53708571, 53708590-53708591, 53708607-53708633, 53709516, 53709526, 53714374-53714380, 53715139-53715140
169SUOX120.9932844932844911163856397743, 56398219-56398227, 56398397
170RPS26120.99137931034483334856436273, 56436281, 56436352
171MYO1A120.997445721583658313257431764-57431770, 57431820
172GNS120.999397227245331165965152974
173LEMD3120.997441520467847273665563621-65563627
174TMPO120.998081534772184208598909852, 98921701, 98921768, 98925605
175UNG120.9851380042462814942109535557-109535558, 109547749-109547750, 109547761-109547770
176MMAB120.994687915006644753110011220-110011223
177MVK120.9991603694374511191110034347
178TRPV4120.957951070336391102616110221428-110221443, 110221485-110221496, 110221577-110221583, 110226248, 110230576-110230595, 110230610, 110236431, 110236601-110236612, 110238487, 110238504-110238510, 110238521-110238525, 110240806, 110240813-110240815, 110240827-110240828, 110240849, 110240876, 110246167-110246173, 110246193, 110246212, 110246267-110246273, 110252575-110252577
179ATP2A2120.9977628635346873129110782691-110782696, 110784171
180MYL2120.998003992015971501111348885
181ATXN2120.849061390157285953942111891515-111891521, 111894010, 111895034-111895042, 111895104, 111902515-111902519, 112036588-112036592, 112036605-112036606, 112036616, 112036629-112036836, 112036862-112037168, 112037191-112037211, 112037254-112037281
182SDS120.9766970618034423987113835109-113835111, 113835130-113835147, 113836592, 113836595
183TBX3120.9986559139784932232115112329-115112331
184ACADS120.98870056497175141239121175210-121175216, 121177185-121177191
185HNF1A120.96888185654008591896121434194-121434202, 121435303, 121435308-121435314, 121435342, 121435383-121435403, 121437164, 121437393-121437401, 121437411-121437412, 121438930-121438931, 121438951, 121438960-121438964
186HPD120.94416243654822661182122284809-122284824, 122286930, 122286947, 122287638-122287639, 122287695-122287696, 122294281-122294312, 122295291, 122295294-122295303, 122295335
187PUS1120.804517133956392511284132414268-132414335, 132414337-132414339, 132414452-132414547, 132414598, 132414601-132414604, 132414613-132414614, 132414624-132414627, 132414630, 132414638-132414648, 132414663, 132414670, 132414673, 132425913-132425915, 132425978, 132425981, 132425984, 132425991-132426008, 132426039-132426042, 132426341, 132426350-132426363, 132426405-132426412, 132426468-132426471, 132426511-132426513
188PDX1130.99765258215962285228494350, 28494355
189B3GALTL130.995323981295937149731774243-31774249
190BRCA2130.99814760651263191025732911105-32911106, 32912742-32912757, 32913392
191SLC25A15130.99116997792494890641367414, 41382658-41382664
192SLITRK1130.999521759923481209184453805
193ZIC2130.745465916197624071599100634390-100634438, 100634505-100634546, 100634585-100634587, 100634590-100634593, 100634595-100634604, 100634685-100634698, 100634838-100634844, 100634921-100634932, 100635008-100635013, 100635058, 100637643-100637647, 100637656, 100637661, 100637673-100637688, 100637696-100637747, 100637753-100637936
194PCCA130.986739826246292187100741425-100741426, 100741430, 100741443, 100741453-100741456, 101101506-101101526
195COL4A1130.99800399201597105010110959309-110959313, 110959370-110959374
196F7130.03595505617977512871335113760156-113760219, 113765004-113765164, 113768071-113768076, 113768085-113768090, 113768161-113768274, 113769974-113770114, 113771096, 113771099-113771116, 113771134-113771189, 113771787-113771910, 113772727-113773322
197F10130.492160872528977451467113777170-113777174, 113777179, 113777185-113777232, 113783879, 113795274-113795316, 113798212-113798288, 113798298, 113798313, 113798327, 113798353, 113798372-113798409, 113801693-113801705, 113801713-113801715, 113801737, 113801746, 113803230-113803378, 113803387-113803420, 113803425, 113803445-113803647, 113803662-113803722, 113803731-113803732, 113803772-113803831
198GRK1130.716903073286054791692114321702-114321728, 114321744-114321749, 114321756-114321764, 114321769-114321771, 114321774, 114321777, 114321787-114321812, 114321847-114321853, 114321889-114321898, 114321944-114321958, 114321964-114322006, 114322017-114322053, 114322062-114322073, 114322085-114322097, 114322109-114322166, 114322204-114322213, 114322264, 114322267-114322271, 114322289, 114322306-114322351, 114322368-114322388, 114324102-114324104, 114325817-114325846, 114325865-114325887, 114325929, 114325936, 114325944-114325956, 114325963-114325967, 114325971, 114426047-114426054, 114426081-114426101, 114436007-114436026, 114438209
199RPGRIP1140.9994819994822386121770699-21770700
200SLC7A7140.99023437515153623282152-23282166
201PABPN1140.99239956568947792123790698-23790702, 23790707-23790708
202MYH6140.997938144329912582023869543-23869545, 23871906-23871913, 23871946
203MYH7140.97830578512397126580823883296-23883302, 23884409-23884414, 23884875-23884882, 23884930, 23884933-23884935, 23885229-23885235, 23885352-23885361, 23885364, 23885373-23885376, 23885382-23885383, 23886077-23886080, 23886746-23886750, 23887557-23887563, 23889081-23889084, 23889395-23889437, 23894083-23894092, 23895994, 23899862-23899864
204NRL140.8067226890756313871424550505-24550521, 24550533-24550558, 24550566, 24550596-24550597, 24550601-24550649, 24550665-24550671, 24550689, 24550692-24550698, 24550705-24550707, 24550741, 24550748, 24551755, 24551759-24551772, 24551795-24551796, 24551816, 24551825, 24551891, 24551902-24551904
205PCK2140.9932397295891813192324572452-24572464
206TINF2140.9918879056047211135624711128-24711138
207TGM1140.86878565607172322245424718555-24718558, 24718631, 24718703, 24723425-24723434, 24723452-24723458, 24723477-24723484, 24723906-24723908, 24723960-24723969, 24723986-24724004, 24724030, 24724274-24724300, 24724355-24724364, 24724404-24724426, 24724570-24724583, 24724682-24724691, 24725198-24725214, 24725241-24725248, 24725275-24725283, 24727494, 24727539-24727576, 24727774-24727806, 24728384-24728389, 24729017, 24729701-24729704, 24729745-24729750, 24729840-24729844, 24731000-24731004, 24731043, 24731268-24731271, 24731276, 24731368, 24731373-24731374, 24731419, 24731483-24731484, 24731487-24731497, 24731531-24731548
208FOXG1140.86530612244898198147029236624-29236626, 29236656-29236704, 29236708, 29236713-29236715, 29236748-29236800, 29236809, 29236835, 29236850, 29236857-29236869, 29236884-29236898, 29236914-29236970, 29237635
209NKX2-1140.9328358208955281120636986610-36986613, 36986652-36986653, 36986665, 36986834-36986852, 36986879-36986881, 36986893, 36988358-36988401, 36989323-36989329
210C14orf104140.95306284805091118251450100683, 50100722-50100723, 50100809, 50100945-50100947, 50101096-50101103, 50101108, 50101113, 50101152-50101158, 50101234-50101266, 50101540-50101572, 50101639-50101642, 50101648, 50101686-50101697, 50101702-50101709, 50101718-50101720
211GCH1140.8552456839309410975355369187-55369233, 55369254-55369298, 55369348-55369364
212OTX2140.98993288590604989457268968-57268971, 57271001-57271005
213VSX2140.9714548802946631108674706338-74706354, 74706365, 74706402-74706404, 74706408-74706411, 74706464-74706465, 74706470-74706473
214FLVCR2140.998734977862112158176045362-76045363
215ESRRB140.994106090373289152776964680-76964683, 76964690-76964694
216POMT2140.94407456724368126225377745180-77745183, 77745190-77745211, 77786780-77786795, 77786849-77786901, 77786952-77786975, 77787009-77787015
217ATXN3140.9852670349907916108692537324-92537337, 92547309-92547310
218AMN14013621362103389026-103389068, 103390048-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
219INF2140.039236033750105167703-105168093, 105169442-105169557, 105169632-105169791, 105170253-105170286, 105172372-105172513, 105173247-105173388, 105173590-105174339, 105174773-105174924, 105175008-105175069, 105175618-105175629, 105175639-105175661, 105175671-105175701, 105175707-105175720, 105175957-105175964, 105175967, 105175970-105176041, 105176425-105176525, 105177274-105177344, 105177416-105177437, 105177443-105177523, 105177966-105177970, 105177982, 105177999-105178036, 105178782-105178890, 105179165-105179184, 105179191-105179329, 105179544-105179646, 105179782-105179943, 105180540-105180590, 105180598-105180736, 105180745-105180847, 105180877-105180984, 105181005-105181145, 105181151-105181193, 105181621-105181676
220NIPA1150.8191919191919217999023049001, 23086234-23086411
221OCA2150.999602701628921251728234772
222IVD150.9921935987509810128140698035, 40698066-40698068, 40698077-40698082
223CHST14150.89655172413793117113140763424-40763457, 40763471-40763492, 40763503-40763532, 40763562, 40763565-40763569, 40763572-40763574, 40763686, 40763689, 40763692, 40763734-40763735, 40763802-40763818
224CDAN1150.9864277958740550368443028668-43028681, 43028685, 43028717, 43028759-43028792
225TTBK2150.999732262382861373543103976
226STRC150.9979354354354411532843897499, 43910437-43910443, 43910867-43910869
227SPG11150.998908892525918733244912439-44912446
228DUOX2150.94103722831935274464745391868, 45391883-45391886, 45391922-45391923, 45392310, 45392322-45392329, 45392341-45392344, 45392395, 45392421-45392423, 45393019-45393021, 45393448, 45394065-45394066, 45394104, 45396478, 45396534, 45398404, 45398407, 45398471-45398487, 45399032-45399047, 45399100, 45400358, 45400380, 45401052-45401063, 45401095-45401117, 45403333-45403337, 45403340-45403343, 45403357, 45403369-45403390, 45403416-45403445, 45403471-45403473, 45403584, 45403630, 45403633, 45403648-45403675, 45403724-45403725, 45403739-45403772, 45404033-45404051, 45404134, 45404782-45404784, 45405201-45405213
229GATM150.9882075471698115127245670606-45670620
230FBN1150.999651810584963861648760191-48760193
231TPM1150.99298245614035685563335995-63335998, 63336017, 63336030
232CLN6150.97329059829062593668500479-68500497, 68521857, 68521874-68521877, 68521883
233HEXA150.9918238993710713159072668079-72668085, 72668124-72668125, 72668277-72668280
234HCN4150.85741971207087515361273614867-73614894, 73615013-73615018, 73615029-73615030, 73615164-73615170, 73615406-73615422, 73615425, 73616104-73616110, 73616462, 73659988-73659989, 73659992-73660001, 73660013-73660060, 73660090-73660140, 73660152-73660204, 73660209-73660228, 73660231-73660234, 73660256-73660293, 73660297, 73660318-73660382, 73660397-73660463, 73660483-73660538, 73660551, 73660555-73660558, 73660586-73660611
235MPI150.999213836477991127275190045
236PSTPIP1150.0287769784172661215125177310489-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
237RPS17150.9828431372549740882823387-82823393
238RPS17150.9828431372549740883207730-83207736
239POLG150.9825268817204365372089864028, 89865981, 89866011-89866015, 89866650-89866651, 89867096, 89872174-89872197, 89876655, 89876675, 89876802-89876830
240MESP2150.67252931323283391119490319621-90319627, 90319644-90319703, 90319750-90319765, 90319799-90319840, 90319852, 90319856, 90319866-90319880, 90319905-90319910, 90320013-90320073, 90320101-90320111, 90320133-90320164, 90320168-90320170, 90320219-90320274, 90320285, 90320356-90320378, 90320390-90320415, 90320420, 90320467-90320494, 90321442
241BLM150.9847202632816265425491337398-91337440, 91337511-91337515, 91337536, 91337540-91337544, 91337577, 91337586-91337587, 91358467-91358474
242VPS33B150.996224379719537185491548925-91548931
243HBZ160.26806526806527314429202917-203003, 203891-203893, 203899-203901, 203932-203942, 203945-203971, 203977-203978, 203983, 203995-204011, 204019-204095, 204271-204354, 204382, 204392
244HBM160.9553990610328619426216015-216028, 216336-216339, 216343
245HBA2160.55710955710956190429222912-222929, 222951, 222955, 222958-222978, 222988-223006, 223172-223197, 223215-223216, 223226-223230, 223234, 223249, 223260-223277, 223282, 223301-223312, 223319-223328, 223471-223511, 223523-223528, 223563-223566, 223577, 223580-223581
246GNPTG160.767973856209152139181401967-1402018, 1402103-1402106, 1402111, 1402123-1402145, 1402151-1402160, 1402240-1402307, 1411795-1411796, 1412043-1412049, 1412098, 1412110-1412130, 1412224, 1412282-1412291, 1412495-1412501, 1412616, 1412904-1412907, 1413053
247CLCN7160.17741935483871198924181496632-1496718, 1497007-1497087, 1497393-1497569, 1497656-1497715, 1498356-1498485, 1498682-1498709, 1498717-1498724, 1498744-1498767, 1498967-1499094, 1499277-1499328, 1500498-1500667, 1501624-1501717, 1502756-1502894, 1503835-1503895, 1504412-1504466, 1505135-1505241, 1505250-1505251, 1505732-1505796, 1506114-1506207, 1507255-1507261, 1507281, 1507298-1507338, 1507695-1507716, 1507741-1507757, 1509108-1509140, 1509155-1509161, 1509176-1509188, 1510437-1510484, 1510490-1510513, 1510523, 1510817-1510832, 1510898, 1510903-1510915, 1510919-1510925, 1510936-1510949, 1511422, 1511463-1511464, 1511607-1511611, 1511615-1511626, 1511629-1511639, 1515320, 1515334-1515339, 1524843-1524844, 1524854-1524975
248IGFALS160.014492753623188190419321840601-1840940, 1840953-1842104, 1842112-1842458, 1842468-1842516, 1843638-1843653
249GFER160.100323624595475566182034220-2034477, 2034748-2034839, 2034853-2034901, 2034913-2034944, 2035867-2035878, 2035883, 2035889, 2035904-2035930, 2035935-2035943, 2035955-2036029
250TSC2160.095317109144543490754242098617-2098621, 2098624-2098668, 2098671-2098683, 2098709-2098754, 2100401-2100487, 2103343-2103352, 2103359-2103361, 2103364-2103366, 2103376-2103453, 2104297-2104312, 2104348-2104432, 2104435, 2105403-2105408, 2105411-2105420, 2105435-2105439, 2105495-2105499, 2105509-2105512, 2105520, 2106197-2106213, 2106228-2106245, 2106671-2106678, 2106705-2106750, 2107165-2107167, 2107171, 2108748-2108794, 2108810-2108842, 2108862-2108874, 2110671-2110814, 2111879, 2111882, 2111886, 2111900-2111905, 2111924-2112009, 2112508-2112601, 2112973-2113054, 2114273-2114428, 2115520-2115534, 2115546-2115636, 2120457-2120502, 2120515-2120579, 2121511-2121617, 2121785-2121935, 2122242-2122322, 2122340-2122364, 2122850-2122852, 2122883-2122905, 2122928-2122984, 2124201-2124390, 2125800-2125893, 2126069-2126171, 2126492-2126509, 2126516-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
251PKD116012912129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
252ABCA3160.72355816226784141451152326675-2326688, 2326735, 2327616-2327633, 2327638, 2327883, 2327902-2327909, 2327941-2327986, 2328019, 2328024-2328026, 2328062-2328070, 2328315-2328336, 2328394-2328409, 2328456, 2328949-2328950, 2328956-2328982, 2329003-2329009, 2329026-2329054, 2329125-2329127, 2331029-2331045, 2331051-2331054, 2331063-2331095, 2331137-2331139, 2331157, 2331163, 2331201, 2331213-2331214, 2331382-2331391, 2331397-2331398, 2331427, 2331430, 2331438, 2331451-2331459, 2333192-2333210, 2333277, 2333283-2333314, 2333317, 2333320, 2333324-2333325, 2334283-2334340, 2334348-2334372, 2334910-2334984, 2334998-2334999, 2335457-2335527, 2335538-2335584, 2335628-2335630, 2335635, 2335639-2335644, 2336748, 2336752-2336753, 2336762, 2336785, 2336959-2336967, 2338053-2338083, 2338143, 2338174-2338176, 2338179, 2338274-2338276, 2339451, 2339473-2339474, 2339490, 2339510-2339511, 2339524-2339537, 2342141, 2342150, 2342171-2342200, 2342230, 2345591-2345601, 2345619-2345625, 2345663-2345677, 2345690, 2345733, 2347330-2347337, 2347343-2347369, 2347392, 2347395-2347424, 2347504-2347540, 2347767-2347809, 2347821-2347873, 2347879-2347906, 2347922, 2348388-2348419, 2348450, 2348456, 2348480-2348516, 2348524, 2348528, 2349409-2349419, 2349430-2349437, 2349452-2349457, 2349485-2349500, 2349520-2349533, 2350006-2350056, 2350066-2350068, 2350073, 2354075-2354085, 2354095-2354100, 2358507, 2358540, 2358569-2358586, 2358608-2358613, 2367362-2367376, 2367671-2367699, 2367719-2367727, 2367732, 2367735-2367743, 2367752-2367758, 2369588, 2369592-2369594, 2369598, 2369601, 2369641-2369683, 2369796-2369815, 2373628, 2374405-2374432, 2374494, 2374505, 2376011-2376012, 2376111-2376118
253MEFV160.982097186700774223463294494, 3297175, 3297232, 3304427-3304428, 3304445, 3304462-3304473, 3304484-3304486, 3304517-3304518, 3304569-3304572, 3304671, 3304678, 3304683-3304694, 3306370
254SLX4160.9582198001816523055053632478-3632479, 3632489, 3632521-3632525, 3632529-3632534, 3632560-3632563, 3632644-3632658, 3633305-3633312, 3633466, 3639353-3639367, 3639411, 3639536, 3639632, 3639745-3639757, 3639773-3639775, 3639786, 3639966-3639968, 3640206-3640207, 3640557-3640563, 3640779, 3641288, 3642752-3642761, 3642805-3642810, 3642844, 3642849-3642866, 3644485-3644488, 3645612, 3646168-3646170, 3647486-3647496, 3647552-3647568, 3647633, 3647639, 3647642, 3647818-3647831, 3647847-3647848, 3647852-3647856, 3647860-3647863, 3647881-3647908, 3650980-3650990, 3651020
255CREBBP160.9723018147086920373293777749-3777793, 3778314, 3778346-3778347, 3778396, 3778401-3778403, 3778413-3778417, 3778440-3778442, 3778557-3778563, 3778709, 3778915-3778932, 3778955-3778991, 3779025, 3779060-3779098, 3779136-3779138, 3779141-3779144, 3779149-3779179, 3779355, 3779361
256GLIS2160.010793650793651155815754382282-4382453, 4383348-4383437, 4383447-4383520, 4384802-4384978, 4385061-4385092, 4385101-4385194, 4385276-4385394, 4386726-4387525
257ALG1160.7498207885304734913955121880, 5125398, 5127530-5127531, 5127908-5127935, 5128016-5128018, 5128780-5128795, 5128804, 5128810-5128824, 5128830-5128874, 5129065-5129093, 5129785-5129791, 5130959-5131057, 5132633-5132662, 5133710-5133757, 5134799-5134822
258ABAT160.99600798403194615038870293-8870295, 8870336, 8873407, 8873412
259MYH11160.9968013468013519594015820706, 15820714-15820715, 15829223-15829230, 15847316-15847323
260ABCC6160.68661347517731414451216244448, 16244472-16244498, 16244530-16244562, 16251638-16251640, 16251656-16251658, 16253345-16253349, 16253374-16253393, 16253414-16253436, 16253439, 16255295-16255399, 16256850-16256851, 16256862-16256874, 16256881-16256896, 16256906-16257049, 16259480-16259493, 16259501-16259503, 16259510-16259543, 16259559-16259790, 16263503-16263582, 16263600-16263708, 16267141-16267219, 16267240-16267261, 16269768-16269843, 16271309-16271312, 16271323-16271359, 16271362-16271375, 16271384-16271400, 16271408, 16271420-16271483, 16272663-16272670, 16272677-16272678, 16272722-16272748, 16272782, 16276297, 16276310, 16276327, 16276385, 16276393-16276394, 16276425-16276427, 16276436, 16276696-16276716, 16276756-16276787, 16278822-16278854, 16278863, 16278869, 16278874-16278875, 16280988, 16282780, 16284072, 16284077, 16291916-16291957, 16291968-16291971, 16291978-16291985, 16292021-16292028, 16315623, 16317265-16317291
261UMOD160.9932397295891813192320359855-20359858, 20360043, 20360064-20360067, 20360333, 20360336, 20360382-20360383
262SCNN1B160.9937597503900212192323391911-23391915, 23392070-23392076
263COG7160.9796800691742347231323400277, 23400281, 23400286, 23403702-23403724, 23403726-23403728, 23409367-23409383, 23436135
264CLN3160.9491268033409367131728497707-28497727, 28497732-28497734, 28497738, 28498841-28498851, 28499912-28499914, 28499921-28499948
265TUFM160.9298245614035196136828857268-28857274, 28857277-28857278, 28857283-28857292, 28857339-28857348, 28857391-28857422, 28857426-28857427, 28857544-28857565, 28857570-28857580
266ATP2A1160.90552228875582284300628890822, 28893902-28893905, 28893909-28893910, 28895896, 28895940, 28895958-28895959, 28898525-28898531, 28898563, 28898567, 28898581, 28898832-28898878, 28898917-28898929, 28898962-28898985, 28899021, 28899024, 28900108-28900118, 28900126-28900168, 28900195, 28900216, 28900224-28900229, 28900247-28900274, 28906230-28906248, 28909692-28909693, 28909704, 28909765-28909772, 28911955-28911959, 28912129-28912134, 28913230, 28913505-28913525, 28913690-28913697, 28913916, 28914154, 28914666, 28914717-28914727, 28914756, 28914761
267CD19160.993417115499711167128948381, 28948454-28948457, 28948613, 28948950, 28949120, 28950020, 28950283-28950284
268PHKG2160.88124488124488145122130760142-30760224, 30760232-30760236, 30764755, 30764815, 30764848-30764850, 30767911-30767950, 30768159, 30768166-30768167, 30768257, 30768269, 30768318, 30768349-30768350, 30768355, 30768367, 30768370, 30768376
269VKORC1160.99390243902439349231102633, 31104654, 31104657
270FUS160.994307400379519158131195693-31195698, 31196403-31196405
271SLC5A2160.93065874195146140201931494487, 31494496, 31494500-31494502, 31494526-31494550, 31495994-31496000, 31499359-31499361, 31499369, 31499379, 31499393, 31499483-31499494, 31500006-31500012, 31500037-31500043, 31500062, 31500067-31500079, 31500093, 31500201-31500223, 31500290, 31500471, 31500503-31500510, 31500524-31500539, 31500569-31500575
272NOD2160.999039385206533312350745808, 50745882, 50745891
273SALL1160.9974842767295610397551175650, 51175656-51175664
274MMP2160.997478567826535198355513408-55513410, 55513427-55513428
275SLC12A3160.95829291949564129309356899220-56899231, 56899390-56899398, 56904011-56904015, 56912040-56912052, 56913086-56913129, 56913454-56913458, 56914127-56914129, 56914152, 56918080-56918086, 56920888-56920890, 56921866-56921869, 56921928-56921943, 56936393-56936399
276GPR56160.9791666666666743206457684210-57684214, 57684223-57684225, 57687233, 57689342, 57689402, 57689425, 57693372-57693390, 57694689-57694691, 57695720-57695723, 57695726-57695729, 57695787
277CNGB1160.9973375931842410375657993810-57993812, 58001057, 58001093-58001098
278TK2160.969696969696972892466583886, 66583963-66583974, 66583991-66584005
279HSD11B2160.79885057471264245121867465152-67465354, 67465378-67465416, 67469999-67470000, 67470006
280LCAT160.48828420256992677132367973807-67973828, 67973848-67973893, 67973913-67974030, 67974045, 67974077-67974112, 67974125-67974129, 67974133-67974144, 67974147, 67974150, 67974172, 67974176-67974178, 67974182-67974193, 67974205-67974211, 67974289-67974306, 67974321-67974356, 67976285-67976290, 67976294, 67976298-67976303, 67976350, 67976394-67976395, 67976398-67976455, 67976473-67976484, 67976574-67976659, 67976767, 67976776, 67976779, 67976817-67976819, 67976822, 67976868-67976879, 67976959-67976999, 67977066-67977115, 67977853-67977877, 67977939-67977973, 67977989-67978004
281CDH3160.9650602409638687249068712791-68712793, 68713841-68713845, 68713860, 68714922-68714951, 68716388-68716390, 68718723-68718725, 68719207, 68721453-68721468, 68721613, 68725775-68725786, 68725789-68725797, 68732137-68732139
282CDH1160.991317478293723264968771344-68771366
283CIRH1A160.996603590490057206169177143, 69177292, 69184568, 69194318-69194319, 69194323-69194324
284COG8160.83795541054921298183969364742-69364743, 69364754-69364838, 69364850-69364868, 69364908, 69364919-69364927, 69364954-69364957, 69364979-69364988, 69366738-69366742, 69366757, 69368483, 69368807, 69370504, 69370527, 69373124, 69373144, 69373170-69373188, 69373197, 69373208-69373244, 69373276-69373283, 69373310-69373397, 69373414, 69373452-69373453
285AARS160.999656002751981290770310925
286HP160.9877149877149915122172094334-72094348
287GCSH160.7222222222222214552281124217-81124240, 81129736-81129779, 81129807-81129883
288GAN160.986622073578624179481348741-81348764
289MLYCD160.8502024291498222148283932789-83932790, 83932806-83932810, 83932819-83932824, 83932862-83932872, 83932889-83932913, 83932942-83932963, 83932976-83933000, 83933010-83933013, 83933019-83933026, 83933073-83933124, 83933144-83933164, 83933225-83933239, 83941800-83941804, 83941807-83941808, 83941811-83941814, 83945889-83945894, 83948673-83948679, 83948845, 83948913
290LRRC50160.9866850321395829217884199429-84199447, 84199489-84199491, 84199524-84199525, 84209787-84209791
291FOXF1160.74298245614035293114086544176-86544184, 86544212-86544221, 86544229, 86544232, 86544247-86544268, 86544294-86544318, 86544344-86544356, 86544381, 86544480-86544488, 86544502-86544516, 86544583-86544612, 86544636-86544659, 86544676-86544682, 86544708-86544713, 86544718-86544721, 86544727-86544729, 86544792, 86544844-86544889, 86544916-86544928, 86544933-86544946, 86544963-86544985, 86546628-86546641, 86546679-86546680
292FOXC2160.64010624169987542150686601030-86601037, 86601077-86601087, 86601090, 86601149-86601157, 86601315-86601325, 86601336, 86601341, 86601351-86601354, 86601430-86601446, 86601500-86601530, 86601556-86601648, 86601660-86601706, 86601717-86601753, 86601762-86601772, 86601793-86601812, 86601860-86601881, 86601897-86601916, 86601932-86602016, 86602073-86602091, 86602101, 86602133-86602176, 86602183-86602213, 86602237-86602238, 86602318-86602320, 86602361-86602373
293JPH3160.59368046283934913224787636833-87636849, 87636875-87636923, 87636933, 87636952-87636958, 87636976-87636991, 87637085-87637088, 87637100-87637102, 87637106, 87637122-87637134, 87677942-87677991, 87678037-87678043, 87678168-87678169, 87678198-87678222, 87678352-87678386, 87678390, 87678511-87678513, 87678544, 87678633-87678637, 87717796-87717797, 87717822-87717854, 87723290-87723377, 87723386-87723387, 87723403, 87723424-87723631, 87723663-87723690, 87723696, 87723704-87723764, 87723774, 87723779, 87723814-87723844, 87723851-87723863, 87723880-87723901, 87723923-87724059, 87724083-87724126
294CYBA160.1717687074829948758888709761-88709978, 88712527-88712530, 88712573-88712605, 88713163-88713182, 88713198-88713246, 88713527-88713583, 88714453-88714472, 88714488-88714513, 88714516-88714517, 88717364-88717421
295APRT16054354388876106-88876248, 88876478-88876556, 88876831-88876964, 88877958-88878064, 88878228-88878307
296GALNS160.39005736137667957156988880847-88880879, 88880888-88880916, 88880932-88880933, 88884415-88884532, 88888997-88889118, 88891175-88891277, 88893110-88893131, 88893137-88893207, 88893222-88893246, 88898445, 88898454-88898456, 88901638, 88901683-88901724, 88901756-88901757, 88902141-88902142, 88902154-88902156, 88902167, 88902176, 88902187-88902188, 88902198, 88902241-88902247, 88904044-88904046, 88904049-88904057, 88904080-88904126, 88904168, 88907400-88907447, 88907456-88907475, 88907493-88907502, 88908305-88908313, 88908352, 88908360, 88908367, 88908373-88908376, 88909114-88909119, 88909141-88909161, 88909173-88909237, 88923166-88923285
297SPG7160.82579564489112416238889574826-89574847, 89574867-89574896, 89574945-89574956, 89574979-89575008, 89598312-89598337, 89598345-89598393, 89598404, 89611122, 89613119-89613154, 89614438, 89614448-89614450, 89614487-89614521, 89616995, 89619428-89619436, 89619487-89619543, 89620223, 89620228, 89620250, 89620254-89620261, 89620305-89620328, 89620349-89620368, 89620940-89620941, 89623323, 89623327-89623334, 89623443, 89623459-89623491, 89623499-89623501
298FANCA160.85050366300366653436889805025-89805085, 89805096-89805116, 89805291-89805311, 89805325-89805349, 89805544-89805591, 89805887-89805892, 89805920-89805923, 89805928, 89806402-89806406, 89806430-89806435, 89806472, 89807242-89807245, 89809287, 89809303, 89809329-89809346, 89811403-89811407, 89811410, 89811476-89811479, 89813038, 89813057-89813058, 89813067, 89813241, 89815164-89815165, 89836285-89836287, 89836372, 89836415-89836432, 89836574, 89836592, 89836610, 89836619-89836630, 89836659-89836667, 89836979-89837001, 89837008-89837042, 89838100-89838102, 89838135, 89839679-89839695, 89839710, 89839717-89839724, 89839728, 89839738-89839740, 89839750-89839760, 89839763, 89839789-89839792, 89842150-89842223, 89845354-89845379, 89846277-89846278, 89849268-89849289, 89858343, 89858348-89858349, 89858353, 89877350-89877356, 89882285-89882329, 89882945-89883023
299TUBB3160.35476718403548873135389989810-89989866, 89998979-89998985, 89998993-89999032, 89999041-89999081, 89999087, 89999876-89999899, 89999907-89999914, 89999956, 89999967, 90001157, 90001191-90001193, 90001203, 90001210-90001212, 90001220, 90001248-90001299, 90001336, 90001362-90001380, 90001403-90001498, 90001517-90001518, 90001536-90001541, 90001546-90001554, 90001580-90001651, 90001681-90001823, 90001837-90001850, 90001861-90001953, 90002012-90002018, 90002028-90002084, 90002090-90002110, 90002121-90002212
300PRPF8170.992865296803655070081554147, 1554170, 1554986, 1557132, 1557169-1557172, 1557200, 1557217-1557227, 1557233, 1577175, 1586887, 1586915-1586922, 1587779-1587796, 1587858
301CTNS170.6832917705735738112033552141-3552142, 3559781-3559856, 3559878-3559880, 3559977-3560089, 3561299-3561383, 3561393-3561405, 3561468-3561469, 3563162-3563173, 3563247-3563269, 3563530-3563553, 3563574-3563598, 3563603, 3563609-3563610
302CHRNE170.5897435897435960814824802059-4802063, 4802102-4802156, 4802162-4802186, 4802296-4802300, 4802347-4802356, 4802368-4802375, 4802381-4802383, 4802493-4802499, 4802518-4802679, 4802763-4802840, 4802851-4802877, 4804088-4804106, 4804125, 4804139, 4804148, 4804164-4804165, 4804189-4804195, 4804285-4804305, 4804336-4804339, 4804350-4804374, 4804377, 4804392, 4804400, 4804412-4804465, 4804471-4804485, 4805271-4805289, 4805293-4805302, 4805325-4805365
303GP1BA170.99947916666667119204837235
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450MYCN20.9555555555555662139516082389, 16082480-16082486, 16082554-16082560, 16082593, 16082596, 16082654-16082658, 16082820-16082857, 16082948-16082949
451MATN320.9897330595482515146120212342-20212356
452OTOF20.63430096763432192599426683043-26683044, 26684750-26684759, 26687742-26687755, 26687780-26687786, 26687823, 26687867-26687876, 26688540, 26689627-26689630, 26690101, 26690302-26690322, 26693467, 26693482-26693495, 26693503, 26693507, 26695387-26695395, 26695421-26695446, 26695469-26695517, 26696024-26696047, 26696063, 26696105-26696162, 26696306-26696386, 26696414-26696424, 26696859-26696878, 26696892-26696978, 26697381-26697513, 26697534-26697540, 26698227-26698292, 26698310-26698361, 26698782-26698868, 26698892-26698906, 26698999-26699031, 26699073-26699094, 26699116-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700578, 26700596-26700617, 26702132-26702186, 26702202-26702252, 26702341-26702466, 26702476-26702500, 26703071-26703093, 26703116-26703132, 26703136-26703148, 26703171-26703179, 26703662-26703774, 26703785-26703846, 26703857-26703877, 26705274-26705313, 26705348-26705460, 26706330-26706351, 26706358-26706409, 26706475-26706489, 26707382-26707388, 26707454-26707456, 26707459, 26707469-26707475, 26712079-26712090, 26712109-26712112, 26712141-26712146, 26712596-26712606
453MPV1720.99058380414313553127535951-27535955
454C2orf7120.9963796224463414386729287923-29287933, 29295420-29295422
455ALK20.999794365617931486330143508
456SPAST20.996218260399787185132288967, 32289036, 32289208, 32289211, 32289217-32289219
457CYP1B120.72610294117647447163238301520-38301544, 38301595-38301596, 38301624-38301632, 38301661-38301663, 38301758-38301760, 38301786-38301800, 38301822, 38301851, 38301858, 38301902-38301994, 38302006-38302049, 38302055-38302078, 38302115-38302156, 38302186-38302215, 38302226-38302229, 38302252-38302254, 38302265-38302266, 38302269-38302272, 38302287-38302315, 38302336-38302342, 38302348-38302452
458SOS120.9950024987506220400239224399-39224402, 39224553, 39285821-39285835
459ABCG520.9846625766871230195644058959-44058979, 44065683, 44065688-44065695
460ABCG820.94411473788328113202244079500, 44099121, 44099215-44099238, 44099250-44099259, 44099362-44099371, 44099389-44099392, 44099442-44099445, 44100926-44100928, 44101114-44101120, 44101579-44101597, 44102285-44102286, 44102336, 44102339-44102348, 44102365-44102366, 44102370-44102377, 44102477-44102483
461SIX320.988988988988991199945169430-45169432, 45169445-45169451, 45170029
462EPCAM20.950264550264554794547596648-47596694
463MSH620.97305902522655110408348010409-48010415, 48010456-48010472, 48010491, 48010499-48010507, 48010527, 48010530-48010536, 48010541-48010556, 48010565-48010567, 48010570, 48010574-48010581, 48010593-48010632
464DYSF20.96430817610063227636071780206, 71797051-71797052, 71797822-71797828, 71801338, 71801341-71801356, 71801412-71801413, 71801499-71801501, 71825694-71825707, 71825712, 71825747-71825749, 71825759-71825760, 71825773-71825836, 71827888-71827893, 71827918-71827924, 71827935, 71828649-71828651, 71829906-71829913, 71838475-71838476, 71838597-71838599, 71838650, 71839771-71839773, 71839797, 71839848-71839854, 71839863, 71839882-71839926, 71840540, 71847694-71847702, 71847708-71847720
465SPR20.8435114503816812378673114562-73114567, 73114585-73114645, 73114735, 73114766-73114794, 73114800-73114809, 73114814-73114821, 73114848-73114855
466ALMS120.9993602047344881250473827996-73828002, 73828342
467MOGS20.93277645186953169251474688493-74688498, 74689008, 74689275, 74689588-74689595, 74689704-74689706, 74689757-74689763, 74689821-74689833, 74689863, 74689942-74689945, 74691747-74691753, 74692172, 74692182, 74692187-74692190, 74692205-74692207, 74692237-74692305, 74692312-74692315, 74692339-74692374
468GGCX20.9815546772068542227785782640, 85782647-85782649, 85787990-85787994, 85788024-85788035, 85788516-85788532, 85788548-85788551
469EIF2AK320.9916442852879728335188926675-88926680, 88926730-88926732, 88926737-88926744, 88926747, 88926751, 88926777-88926784, 88926792
470TMEM12720.937238493723854571796919640, 96930912-96930913, 96930959-96930967, 96930990-96930991, 96931020-96931028, 96931033-96931039, 96931076-96931087, 96931098-96931099, 96931102
471ZAP7020.87150537634409239186098340520-98340567, 98340593-98340603, 98340678-98340725, 98340738-98340764, 98340817-98340852, 98340855-98340856, 98340879, 98341647-98341652, 98349377-98349387, 98349431, 98349436, 98349761-98349778, 98351108-98351115, 98351160-98351168, 98351784-98351785, 98351849-98351858
472RANBP220.959586563307493919675109345588-109345601, 109347853-109347894, 109357110-109357126, 109363178-109363212, 109365376, 109365416, 109367720-109367736, 109368046-109368080, 109368104-109368111, 109368433, 109368437, 109368449, 109369466-109369488, 109370395-109370401, 109371632-109371633, 109371656-109371662, 109371711-109371715, 109374948-109374992, 109378557-109378558, 109378610-109378628, 109382635-109382641, 109383259-109383289, 109383658-109383686, 109383968-109383974, 109384062-109384088, 109384628-109384634
473MERTK20.9996666666666713000112656321
474PAX820.98669623059867181353113992992-113992996, 113993118-113993130
475GLI220.863264020163836514761121708819-121708848, 121708855-121708868, 121708963-121708973, 121708991-121709020, 121712920, 121712925, 121726439, 121727999-121728015, 121728023-121728029, 121728038-121728041, 121728146-121728148, 121728156-121728182, 121729539-121729577, 121729606-121729639, 121742197-121742203, 121742213, 121742279-121742287, 121745812, 121745828-121745841, 121745897-121745900, 121745985-121745986, 121745991-121745999, 121746002-121746003, 121746042, 121746045, 121746080-121746105, 121746113-121746117, 121746150-121746177, 121746187, 121746193, 121746208-121746235, 121746245-121746247, 121746250, 121746287-121746314, 121746349-121746356, 121746373-121746420, 121746522-121746564, 121746580-121746590, 121746617-121746626, 121746696-121746730, 121746800-121746809, 121747015-121747032, 121747330-121747347, 121747393-121747398, 121747462-121747486, 121747497-121747501, 121747657-121747659, 121747707-121747710, 121747861-121747863, 121747869, 121747989-121748000
476BIN120.939393939393941081782127808464, 127808737-127808761, 127811515-127811531, 127815080-127815107, 127816592-127816593, 127816622, 127816625, 127816630, 127827620, 127827640, 127834204, 127834215-127834223, 127864436-127864455
477PROC20.97330447330447371386128178870, 128180678, 128180702-128180736
478CFC120.65178571428571234672131279058-131279070, 131279409-131279429, 131279601, 131279633, 131279655-131279699, 131280363-131280398, 131280443, 131280453-131280455, 131280747, 131280763, 131280781-131280809, 131280836, 131285293-131285326, 131285348, 131285351, 131285363, 131285374-131285417
479NEB20.999198958646241619974152432795, 152432808-152432822
480SCN2A20.9998338318378216018166153538
481ITGA620.999389499389523276173292540-173292541
482HOXD1320.92829457364341741032176957619-176957634, 176957661-176957684, 176957689, 176957711-176957713, 176957737, 176957741-176957750, 176957782-176957789, 176957800, 176957829-176957831, 176957838-176957839, 176958200-176958204
483AGPS20.9964592817400171977178257598-178257603, 178333228
484TTN20.9993117069667269100248179418721-179418726, 179419431, 179429404, 179431507, 179433923, 179434158, 179434347, 179434714-179434715, 179434744-179434753, 179436687, 179438593, 179438738-179438739, 179438815, 179439698-179439710, 179442018-179442023, 179442365-179442366, 179442908, 179446865, 179447796-179447806, 179514896-179514901
485CERKL20.9812382739212301599182468571-182468572, 182468615-182468635, 182468648, 182468714-182468716, 182468765-182468767
486COL3A120.9997727789138814401189871664
487HSPD120.99186991869919141722198351835-198351841, 198351876-198351882
488BMPR220.9971126082771993117203242258, 203378451-203378456, 203378525, 203384836
489NDUFS120.97069597069597642184206992577-206992593, 207017183-207017184, 207017197-207017204, 207018342-207018378
490ACADL20.9992266047950511293211085388
491PNKD20.9922279792746191158219204506, 219204551, 219204554-219204559, 219204562
492WNT10A20.96969696969697381254219757568, 219757579-219757599, 219757618-219757619, 219757869-219757882
493DES20.90375088464261361413220283200-220283205, 220283212, 220283219-220283247, 220283250-220283262, 220283274, 220283277, 220283285, 220283345-220283365, 220283585, 220283590-220283593, 220283630-220283654, 220283699-220283724, 220283749-220283755
494OBSL120.872430152872967265691220416280-220416302, 220416391-220416439, 220416479-220416509, 220416836-220416880, 220417268-220417276, 220417278, 220417282, 220417288-220417292, 220417308, 220417319-220417352, 220417359-220417393, 220417407-220417419, 220417604, 220417613-220417649, 220417675-220417700, 220419209, 220422094, 220422133-220422137, 220422148, 220422554, 220422605, 220424139, 220424142-220424144, 220428083-220428105, 220428187, 220428265, 220432630-220432632, 220435229-220435243, 220435356-220435379, 220435384-220435387, 220435394-220435402, 220435405-220435417, 220435518, 220435528-220435551, 220435554, 220435565-220435587, 220435599-220435610, 220435613-220435620, 220435636-220435640, 220435646-220435718, 220435724-220435751, 220435755, 220435758, 220435773-220435776, 220435784-220435818, 220435833-220435841, 220435861-220435878, 220435890-220435954
495CHRND20.842342342342342451554233390926-233390937, 233390948-233390977, 233391308-233391344, 233391368-233391379, 233393665, 233394649-233394653, 233394694, 233394706, 233394709-233394712, 233394724-233394730, 233396062-233396072, 233396087-233396115, 233396276-233396338, 233398702-233398719, 233398827-233398829, 233399855-233399865
496CHRNG20.995495495495571554233404459, 233409108, 233409112, 233409243, 233409591-233409593
497SAG20.9983579638752121218234224747, 234224759
498COL6A320.9998951122299119534238303648
499AGXT20.92875318066158841179241808295, 241808301-241808302, 241808435-241808438, 241808620-241808642, 241808648-241808676, 241808699-241808705, 241808765-241808768, 241808777-241808779, 241810100, 241814597, 241816966-241816972, 241817012-241817013
500D2HGDH20.738186462324394101566242689590-242689621, 242689653-242689664, 242689671, 242689681-242689683, 242689686, 242689699-242689709, 242690661-242690669, 242690672, 242690675, 242690730-242690739, 242695276-242695314, 242695350-242695376, 242695392, 242695395-242695396, 242707125-242707384
501AVP200.672727272727271624953063312-3063361, 3063393-3063394, 3063401-3063402, 3063623-3063715, 3063722, 3063777-3063789, 3063815
502PANK2200.994162288382951017133869982-3869990, 3870132
503JAG1200.9904293136450635365710653391, 10653430-10653440, 10653451, 10653455, 10653479, 10653577, 10654120, 10654155-10654172
504THBD200.99942129629631172823029772
505SNTA1200.81422924901186282151832000156, 32000381-32000384, 32000571, 32031123-32031190, 32031200-32031273, 32031284, 32031288-32031292, 32031299-32031426
506GDF5200.9880478087649418150634021996, 34022224, 34022416-34022430, 34022518
507HNF4A200.997894736842113142543052773-43052775
508ADA200.89377289377289116109243254229-43254231, 43255150-43255156, 43255206-43255225, 43257744-43257787, 43264873-43264880, 43264887, 43280216-43280248
509CTSA200.9639278557114254149744520003-44520018, 44520208-44520216, 44520227, 44520230, 44520233-44520243, 44520328-44520343
510SALL4200.9930423782416222316250407100, 50408340-50408354, 50418824-50418829
511GNAS200.8428184281842811673857415188-57415238, 57415322, 57415325, 57415328-57415362, 57415458-57415465, 57415483-57415494, 57415668-57415669, 57415689, 57415813-57415816, 57415820
512GNAS200.93384714193963206311457428430-57428431, 57429067-57429068, 57429073-57429077, 57429081-57429101, 57429133-57429137, 57429214-57429234, 57429388-57429390, 57429399, 57429424-57429430, 57429459-57429478, 57429626-57429650, 57429668-57429686, 57429737-57429766, 57429843-57429854, 57429979-57430001, 57430045-57430049, 57430081-57430085
513COL9A3200.345985401459851344205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450574-61450645, 61451281-61451334, 61452533-61452568, 61452859-61452882, 61453109-61453162, 61453463-61453516, 61453943-61453984, 61455804-61455853, 61456320-61456373, 61457169-61457220, 61457556-61457609, 61458119-61458172, 61458613-61458646, 61459275-61459290, 61459297-61459299, 61459318-61459328, 61460127-61460142, 61460149, 61460287-61460328, 61460807-61460851, 61460980-61461030, 61461118-61461121, 61461133, 61461167-61461171, 61461712-61461765, 61461869-61461940, 61463522-61463535, 61464388, 61464391, 61467287-61467304, 61467539, 61467577, 61467580-61467658, 61467840-61467841, 61468462, 61468482-61468522, 61468546, 61468561, 61468569-61468594, 61468603, 61468616-61468617, 61470102-61470103, 61471918-61471925, 61471934-61471936, 61472014-61472015, 61472077
514CHRNA4200.0164543524416141853188461978090-61978215, 61981005-61981196, 61981206-61981967, 61981982-61982264, 61982273-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
515KCNQ2200.189385261550212123261962037997-62038077, 62038085-62038102, 62038118-62038154, 62038167-62038169, 62038175-62038213, 62038220-62038223, 62038234-62038728, 62039766-62039788, 62039799-62039878, 62044811-62044873, 62044887, 62044890, 62044917, 62045441-62045465, 62045504, 62045514-62045516, 62045519, 62045527, 62046271-62046336, 62046344-62046347, 62046386-62046433, 62046463-62046479, 62055530-62055535, 62059720-62059723, 62059734-62059788, 62062693-62062706, 62065173-62065205, 62065244-62065256, 62069982-62069983, 62069988-62069990, 62069995-62070007, 62070026-62070073, 62070951-62071061, 62073759-62073872, 62073880-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078190, 62103521-62103816
516SOX182001155115562679519-62680315, 62680512-62680869
517APP210.998702983138783231327394182-27394184
518IFNGR2210.9280078895463573101434775850-34775922
519RCAN1210.959156785243743175935987166-35987168, 35987191-35987205, 35987288-35987296, 35987302-35987305
520CLDN14210.99444444444444472037833284-37833285, 37833872, 37833993
521TMPRSS3210.9897435897435914136543795968-43795974, 43803222-43803225, 43805549-43805551
522CBS210.7530193236715409165644474012, 44474016-44474017, 44476913-44476921, 44476975, 44478314-44478349, 44478947, 44478978-44478986, 44479042-44479044, 44479065-44479072, 44479075-44479078, 44479336-44479339, 44480551-44480564, 44480576-44480603, 44480632, 44482429-44482452, 44483064-44483094, 44483107, 44483124, 44483127, 44483170, 44484028-44484040, 44485599, 44485605, 44485614, 44485630-44485631, 44485746-44485772, 44485786, 44485791-44485793, 44485796-44485798, 44486378, 44488619, 44488628-44488686, 44488696, 44492108-44492144, 44492148, 44492160-44492193, 44492206-44492225, 44492255-44492273, 44492277-44492280
523CSTB210.882154882154883529745194157, 45194204, 45196085-45196117
524AIRE210.0641025641025641533163845705890-45706021, 45706440-45706512, 45706520-45706552, 45706567-45706614, 45706861-45707016, 45707400-45707474, 45708228-45708341, 45709540-45709550, 45709559-45709605, 45709623-45709685, 45709871-45709951, 45710978-45711047, 45711058-45711093, 45712198-45712217, 45712254-45712284, 45712876-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
525ITGB2210.68181818181818735231046306743-46306750, 46306756-46306760, 46306781-46306806, 46308608-46308709, 46308721-46308754, 46308768-46308773, 46308800-46308810, 46309195-46309196, 46309226-46309229, 46309237-46309238, 46309251-46309262, 46309273, 46309276-46309308, 46309319-46309320, 46309323-46309324, 46309334-46309341, 46309379-46309410, 46309893-46309965, 46309975-46309995, 46310012, 46310018, 46310021-46310045, 46310063-46310077, 46310121-46310122, 46310127, 46311739-46311747, 46311756-46311802, 46311813-46311815, 46311834, 46311841-46311852, 46311880, 46311885, 46311888, 46311891-46311903, 46313319-46313327, 46319052-46319070, 46320326-46320332, 46320338-46320341, 46320357-46320390, 46321407-46321426, 46321530, 46326839-46326868, 46326904, 46326925-46326940, 46326964-46326988, 46327006-46327007, 46330199-46330232, 46330666-46330677, 46330680-46330682, 46330687
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528COL6A2210.149346405228762603306047531394-47531505, 47531893-47531912, 47531944, 47531959-47531978, 47531994-47532012, 47532026-47532028, 47532033, 47532038-47532066, 47532109-47532173, 47532205-47532237, 47532246-47532266, 47532273, 47532284-47532366, 47532376-47532416, 47532448-47532450, 47532460-47532462, 47532482-47532491, 47532732-47532738, 47533952-47533954, 47533979-47533987, 47535786-47535839, 47535923-47535967, 47536581-47536591, 47536684-47536728, 47537314-47537367, 47537788-47537835, 47538528-47538590, 47538944-47538956, 47538970-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541496, 47541509-47541532, 47542023-47542072, 47542410-47542445, 47542789-47542851, 47544565-47544604, 47544609, 47544799-47544834, 47545180-47545208, 47545224-47545225, 47545379-47545531, 47545699-47545731, 47545737-47545840, 47545849-47545942, 47545949-47546151, 47546417-47546455, 47551868-47552466
529COL6A2210.0409356725146232834247552183-47552504, 47552519-47552524
530FTCD210.0424354243542441557162647556901-47556946, 47556955-47556987, 47557157-47557162, 47557166-47557183, 47557187-47557219, 47557240-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570341, 47570357-47570402, 47570408-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575425, 47575437
531PCNT210.976825491958852321001147744143-47744160, 47744177-47744196, 47766820-47766822, 47786644-47786693, 47786720, 47786766, 47836682-47836685, 47836712-47836736, 47841937, 47848347, 47848405, 47848455-47848458, 47848472-47848482, 47850036-47850065, 47850128-47850136, 47850421-47850429, 47850519-47850522, 47850534-47850537, 47850551-47850571, 47851549, 47851753, 47851811, 47852100, 47855984-47855991, 47863844, 47863848, 47863852
532PRODH220.65501941209096622180318900753, 18900757-18900776, 18900800-18900805, 18900814-18900842, 18900990, 18901009-18901029, 18904403-18904447, 18905839-18905886, 18905895-18905937, 18905964, 18905967, 18907046, 18907285-18907311, 18908859-18908861, 18908875, 18908880-18908888, 18909838-18909844, 18909880-18909905, 18910330-18910362, 18910644, 18910647-18910648, 18912564-18912594, 18912675, 18912678, 18918621, 18923528-18923564, 18923576-18923800
533GP1BB22062162119711093-19711102, 19711377-19711987
534TBX1220.37432795698925931148819747167-19747200, 19748428-19748773, 19748795-19748803, 19751762, 19751838, 19752481-19752484, 19753306-19753311, 19753317-19753319, 19753329, 19753345-19753348, 19753425-19753525, 19753912-19754049, 19754063-19754157, 19754180-19754183, 19754190-19754373
535SMARCB1220.9689119170984536115824175853-24175887, 24176366
536HPS4220.999526515151521211226849312
537CHEK2220.93412833617263116176129083895-29083917, 29083946-29083966, 29085123-29085142, 29085165-29085171, 29090027-29090057, 29090101-29090105, 29091837-29091844, 29126408
538NF2220.9932885906040312178829999988-29999999
539TCN2220.9672897196261742128431010407, 31011425-31011460, 31011606-31011608, 31022477, 31022486
540TIMP3220.96855345911952063633197988-33198007
541MYH9220.86486486486486795588336688082, 36688093-36688125, 36688138-36688164, 36688227, 36689415-36689439, 36689481-36689484, 36689843-36689853, 36690175, 36690188-36690196, 36690205, 36691040, 36691649-36691657, 36691684-36691695, 36692889, 36692924-36692925, 36692956, 36692979-36692992, 36694965-36694977, 36694980-36694981, 36694984, 36694988, 36695049-36695051, 36695057-36695059, 36695075-36695088, 36696173-36696177, 36696204, 36696281-36696283, 36696907, 36696948-36696950, 36696960-36696964, 36696968, 36696972-36696975, 36697030-36697033, 36697059-36697103, 36697580-36697640, 36697658-36697704, 36697711, 36698616, 36698619-36698627, 36698653-36698666, 36698693-36698722, 36700050-36700101, 36700110-36700116, 36700169-36700201, 36701079-36701109, 36702046-36702073, 36702087, 36702494-36702509, 36702559-36702597, 36705346-36705355, 36708113-36708143, 36708241-36708267, 36710190-36710230, 36710271-36710273, 36712646-36712664, 36712711-36712712, 36714255-36714279, 36716293, 36717829, 36718549-36718550, 36718565
542TRIOBP220.802338686954071403709838097464, 38106547, 38109323, 38109370, 38111821, 38111835, 38119714, 38119856-38119905, 38120041, 38120150-38120199, 38120426-38120432, 38120962-38120981, 38121314, 38121474, 38121602, 38121704-38121706, 38121750-38121753, 38121783, 38121789, 38121842-38121866, 38121949, 38121974-38122000, 38122005-38122027, 38122042, 38122047, 38122052-38122063, 38122091, 38122106, 38122109-38122131, 38122170, 38122181, 38122184-38122192, 38122202, 38122217-38122233, 38122273, 38122326-38122327, 38122388-38122411, 38122421, 38122433-38122434, 38122437-38122490, 38122493, 38122496, 38129305-38129312, 38129314-38129332, 38129337-38129371, 38129388-38129419, 38130406-38130421, 38130453, 38130460, 38130464-38130505, 38130525-38130574, 38130585-38130627, 38130650-38130705, 38130709, 38130733, 38130747-38130851, 38130861-38131064, 38131078-38131112, 38131120-38131124, 38131127-38131188, 38131215-38131269, 38131279-38131281, 38131288-38131289, 38131292-38131293, 38131300-38131301, 38131314, 38131354-38131356, 38131360-38131362, 38131374-38131376, 38131387-38131449, 38136924-38136930, 38136942-38136946, 38136951-38136962, 38136973-38136975, 38137007-38137015, 38147786-38147787, 38147799-38147801, 38147826-38147835, 38151118-38151123, 38153767, 38153773-38153776, 38153928-38153948, 38154128-38154138, 38161714-38161745, 38161793-38161804, 38165145, 38165148, 38165152-38165177, 38165317-38165320, 38167735-38167736, 38168764
543SOX10220.9157744468237118140138379372-38379377, 38379390-38379397, 38379455-38379480, 38379515-38379547, 38379571-38379577, 38379614-38379634, 38379727-38379743
544PLA2G6220.1697341513292440648938508274-38508284, 38508293-38508299, 38508511-38508584, 38509494-38509498, 38509501-38509502, 38509512-38509598, 38509602, 38509608, 38509612-38509620, 38509631-38509636, 38509667-38509869
545PLA2G6220.65675340768278831242138508168-38508194, 38508198-38508201, 38508211-38508284, 38508293-38508299, 38508511-38508584, 38509494-38509498, 38509501-38509502, 38509512-38509598, 38509602, 38509608, 38509612-38509620, 38509631-38509636, 38511539-38511649, 38511659-38511688, 38512082-38512111, 38512184-38512200, 38516766-38516768, 38516771-38516772, 38516837-38516871, 38516883-38516898, 38519102-38519143, 38519172-38519265, 38522416-38522433, 38522439-38522443, 38524304-38524316, 38524354-38524394, 38524404-38524419, 38524430-38524432, 38525461-38525489, 38525515-38525522, 38528887-38528896, 38528908-38528915, 38529019-38529020, 38531025
546EP300220.9982056590752213724541489050-41489055, 41489073-41489079
547TNFRSF13C220.2090090090090143955542321371-42321389, 42321403, 42321410-42321444, 42321478-42321485, 42321519-42321524, 42321550-42321558, 42322105-42322170, 42322177-42322335, 42322642-42322777
548CYB5R3220.8377483443708614790643015809, 43015813, 43015816-43015831, 43023349-43023355, 43023646, 43024172, 43026905-43026921, 43026971-43026987, 43027384-43027431, 43027440-43027456, 43045301-43045321
549TRMU220.7567140600316308126646731662-46731696, 46731700-46731737, 46746192-46746193, 46746228-46746241, 46746254, 46746326-46746332, 46746360, 46748043, 46748200-46748211, 46749725-46749739, 46749745-46749747, 46751361-46751409, 46751433-46751436, 46751456-46751485, 46751887, 46751957-46751969, 46752751-46752777, 46752780-46752792, 46752827-46752839, 46752847-46752870, 46752899-46752903
550ALG12220.70552147239264432146750297659-50297667, 50297677, 50297996-50298015, 50301383-50301407, 50301483, 50301535-50301551, 50301557-50301561, 50301574-50301575, 50301577-50301579, 50303576, 50303606-50303647, 50303660-50303736, 50304082-50304096, 50304106-50304118, 50304147-50304190, 50304254-50304255, 50307092-50307140, 50307150-50307165, 50307252-50307267, 50307291-50307327, 50307364-50307398, 50307412-50307413
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553TYMP220.275362318840581050144950964199-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965104, 50965121-50965143, 50965161, 50965164, 50965596-50965598, 50965626-50965641, 50965677-50965710, 50966017-50966023, 50966027, 50966032-50966041, 50966047-50966060, 50966073, 50966116, 50966131, 50966134, 50966955-50966957, 50966963-50966964, 50967021-50967039, 50967587-50967669, 50967682, 50967689, 50967705-50967712, 50967745-50967761, 50967925-50967938, 50967961-50968041, 50968053-50968138
554ARSA220.85301837270341224152451063576-51063594, 51063621-51063646, 51063658-51063685, 51063764-51063772, 51063814, 51063845, 51063858, 51063862-51063869, 51064022, 51064077-51064084, 51064109, 51064416, 51064422-51064430, 51064441-51064443, 51064469-51064483, 51064490, 51064626-51064628, 51064690-51064699, 51065099, 51065308-51065314, 51065363, 51065448, 51065478-51065480, 51065735-51065743, 51065802-51065806, 51065984-51065988, 51066110-51066114, 51066141-51066182
555SHANK3220.278604118993133783524451113070-51113132, 51113476-51113679, 51115056-51115102, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123060-51123079, 51133203-51133256, 51133262-51133268, 51133279-51133402, 51133432-51133440, 51133444, 51133447-51133476, 51135671-51135719, 51135951-51136143, 51137122-51137144, 51137193-51137231, 51142288-51142323, 51142349-51142358, 51142594-51142627, 51143185-51143265, 51143284-51143290, 51143481-51143494, 51143516-51143519, 51143522-51143524, 51144506-51144514, 51144522-51144540, 51144551-51144575, 51144580, 51158612-51158894, 51158904-51158938, 51158952-51159097, 51159121-51159476, 51159483-51159540, 51159558-51159564, 51159567, 51159599-51159675, 51159687-51159724, 51159768-51159796, 51159879-51159913, 51159922-51159953, 51159982-51160104, 51160145-51160146, 51160180-51160255, 51160298-51160305, 51160336-51160349, 51160374-51160377, 51160384-51160397, 51160450-51160456, 51160493-51160538, 51160558-51160577, 51160605, 51160629-51160664, 51160703, 51160736-51160739, 51160744-51160752, 51160757, 51160760, 51160775-51160824, 51160851-51160865, 51169160-51169365, 51169378-51169474, 51169485-51169539, 51169565-51169613, 51169619-51169691, 51169697-51169740
556FANCD230.9902626811594243441610085536, 10088266, 10088299, 10088308, 10088340-10088346, 10114941-10114947, 10132042, 10132047-10132061, 10138060, 10140537-10140544
557VHL30.7632398753894115264210183584-10183588, 10183603-10183607, 10183616-10183618, 10183625-10183660, 10183679-10183717, 10183761-10183788, 10183824-10183859
558WNT7A30.993333333333337105013921279-13921285
559CRTAP30.9543946932006655120633155789, 33155805, 33155835-33155880, 33155909-33155915
560SCN5A30.9966038376634420588938616811-38616812, 38616837-38616853, 38618239
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562TMIE30.607218683651818547146742978-46743070, 46747344-46747357, 46750619-46750633, 46750740-46750765, 46751070-46751106
563MYL330.99149659863946558846900982, 46901006, 46902272, 46904786-46904787
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631NSD150.9997528117661628091176719147-176719148
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633F1250.2678571428571413531848176829293-176829297, 176829308, 176829317-176829328, 176829332-176829336, 176829372-176829412, 176829416-176829426, 176829444-176829460, 176829565-176829569, 176829573-176829574, 176829586, 176829597-176829661, 176829672, 176830255-176830356, 176830388-176830398, 176830482-176830605, 176830860-176831052, 176831061-176831091, 176831197-176831414, 176831500-176831548, 176831558-176831650, 176831660-176831665, 176831822-176831878, 176831890-176831915, 176832055-176832080, 176832103-176832150, 176832172-176832186, 176832324-176832355, 176832391-176832406, 176832421, 176832431, 176832736-176832755, 176832974-176833039, 176833049-176833062, 176836483-176836520
634NHP250.9567099567099620462177577975, 177580544-177580561, 177580677
635GRM650.933561123766141752634178408666-178408670, 178410005-178410008, 178410050-178410051, 178410151, 178413368-178413382, 178413486-178413488, 178413503-178413505, 178413581, 178413676-178413680, 178413686, 178413689, 178415995-178416016, 178416121-178416125, 178421507-178421513, 178421519-178421520, 178421526-178421527, 178421533, 178421536, 178421575, 178421582, 178421585-178421599, 178421657-178421696, 178421715-178421718, 178421881-178421911, 178421928, 178421931
636SQSTM150.740740740740743431323179247937-179248114, 179248123-179248141, 179250024-179250049, 179250901-179250917, 179250975-179251019, 179251047-179251087, 179251188-179251189, 179251203, 179251259, 179251294-179251302, 179252162, 179252165-179252167
637FLT450.2128543499511232214092180038349-180038362, 180038408, 180039580-180039608, 180040036-180040055, 180040106-180040108, 180041073-180041079, 180043367-180043412, 180043421, 180043433-180043489, 180043900-180043932, 180043944-180043952, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
638FOXC160.5336943441636677516621610681-1610686, 1610711-1610776, 1610845, 1610854-1610941, 1610973-1610993, 1611027-1611035, 1611073-1611104, 1611110-1611118, 1611184-1611200, 1611274-1611339, 1611358-1611380, 1611414-1611451, 1611457-1611572, 1611603, 1611627-1611713, 1611797-1611850, 1611910-1611954, 1612013-1612052, 1612125-1612171, 1612178-1612186
639TUBB2B60.8721973094170417113383224997-3225027, 3225057, 3225236-3225274, 3225305-3225328, 3225356-3225365, 3225392-3225419, 3225442-3225456, 3225531-3225542, 3225577, 3225584, 3225589, 3225604, 3227739-3227745
640ATXN160.9763071895424858244816327807, 16327810, 16327854, 16327858-16327903, 16327919-16327924, 16327927, 16327933, 16327940
641ALDH5A160.9927140255009112164724495347-24495350, 24495384-24495391
642HLA-H60.913333333333336575029855817-29855831, 29855849, 29855901-29855911, 29856261-29856272, 29856330, 29856347, 29856394-29856397, 29856402, 29856445, 29856514-29856516, 29856550, 29856565, 29856633, 29856643, 29856686, 29856718, 29856747-29856755
643NEU160.9567307692307754124831829788, 31829916-31829954, 31830489, 31830494-31830495, 31830499-31830507, 31830538-31830539
644TNXB60.71747019180923545192931976393, 31976896-31976948, 31977077, 31977081-31977097, 31977121-31977140, 31977158-31977200, 31977212, 31977388-31977394, 31977504-31977555, 31977584-31977624, 31977647, 31977742-31977760, 31977772-31977780, 31977835-31977853, 31977869-31977871, 31977995-31978010, 31978039, 31978052-31978053, 31978065, 31978087-31978124, 31978274, 31978301-31978340, 31978498-31978517, 31978941-31978952, 31979305, 31979357, 31979446-31979498, 31979516-31979524, 31979539-31979540, 31979554, 31979566, 31979585-31979586, 31979615-31979632, 31980041, 31980074, 31980100-31980136
645CYP21A260.70631720430108437148832006200-32006252, 32006266-32006284, 32006296-32006340, 32006394, 32006499-32006500, 32006581, 32006871-32006874, 32006883-32006927, 32006940-32006988, 32007000, 32007165-32007190, 32007343, 32007584-32007599, 32007790, 32007819-32007852, 32007890-32007896, 32007962-32007970, 32008237, 32008341, 32008359, 32008537, 32008654-32008657, 32008667-32008740, 32008747-32008787
646TNXB60.922617644748219851272932009198, 32009631-32009637, 32009648-32009684, 32009812, 32009816-32009818, 32009822-32009832, 32009872, 32009896, 32009912-32009918, 32009928, 32009944-32009947, 32010043-32010054, 32010123-32010129, 32010242-32010275, 32010318-32010363, 32010381, 32010476-32010494, 32010502-32010515, 32010526, 32010569-32010587, 32010603-32010605, 32010728-32010741, 32010773, 32010786-32010787, 32010793-32010794, 32010799, 32010821-32010858, 32011008, 32011059-32011095, 32011230-32011276, 32011299-32011308, 32011316-32011317, 32011591-32011608, 32011624-32011648, 32011795-32011830, 32012169-32012214, 32012292-32012347, 32012370-32012397, 32012408, 32012420, 32012439-32012440, 32012449-32012450, 32012453, 32012783-32012793, 32012895, 32012965-32012990, 32013997-32014009, 32014012-32014013, 32014150-32014175, 32014210, 32014228, 32015512-32015513, 32015581-32015593, 32016239-32016247, 32016295-32016302, 32018036-32018068, 32021322, 32023636-32023648, 32023660-32023661, 32023700-32023714, 32023886, 32024377-32024379, 32024387, 32024421-32024441, 32024468-32024469, 32025836-32025839, 32025847, 32025851, 32025889-32025905, 32025960, 32026045-32026091, 32026136, 32026158-32026167, 32029200-32029210, 32029295, 32029298-32029309, 32029407-32029415, 32029940, 32030127-32030133, 32030182, 32030185, 32030205, 32032659-32032676, 32035660-32035666, 32036190-32036191, 32037413, 32037911, 32037918, 32038029-32038044, 32046819, 32064236, 32064289, 32064293, 32064367-32064369
647HLA-DQB160.922391857506366178632629124-32629173, 32629224-32629234
648COL11A260.9938591441182132521133139490-33139515, 33140332-33140337
649SYNGAP160.9766865079365194403233388042-33388108, 33393631-33393634, 33393644, 33411468, 33411519-33411520, 33411549, 33411552-33411554, 33411701-33411715
650FANCE60.9894475481067717161135420381-35420386, 35420388, 35420412-35420414, 35420417-35420418, 35420501, 35423588, 35423595, 35425351-35425352
651TULP160.9073050951504151162935471370, 35471379-35471381, 35473815-35473820, 35473924, 35473930, 35477032, 35478769, 35479425-35479452, 35479518-35479520, 35479573-35479583, 35479957-35480008, 35480025-35480028, 35480035-35480038, 35480416-35480430, 35480463-35480467, 35480590, 35480599-35480600, 35480605-35480616
652MOCS160.7723704866562435191139874649, 39883878-39883887, 39883921-39883925, 39883948, 39893422-39893589, 39895068-39895317
653PRPH260.99711815561963104142672170-42672172
654PEX660.986408426775440294342935237-42935239, 42936183-42936187, 42936647-42936654, 42936689-42936692, 42946451, 42946456, 42946465, 42946468-42946470, 42946639-42946648, 42946653-42946656
655CUL760.998822836962926509743006019-43006024
656RSPH960.967509025270762783143612836, 43612874-43612896, 43638555-43638557
657RUNX260.9750957854406139156645390468, 45390474, 45390477-45390513
658PKHD160.99893660531697131222551929805-51929815, 51929825-51929826
659SEC6360.9964958388085982283108279194-108279201
660OSTM160.90149253731343991005108395628-108395640, 108395667-108395714, 108395729, 108395743, 108395747-108395750, 108395788-108395808, 108395826-108395831, 108395846-108395850
661PEX760.998971193415641972137143840
662TBP60.901960784313731001020170871010-170871109
663LFNG70.017543859649123112011402559496-2559927, 2564329-2564370, 2564376-2564377, 2564853-2564952, 2565048-2565113, 2565123-2565201, 2565319-2565404, 2565878-2565919, 2565926-2566043, 2566470-2566555, 2566780-2566846
664PMS270.9505600617999212825896013046-6013076, 6013117-6013156, 6018311, 6022488, 6022494, 6026390-6026395, 6026820-6026846, 6026867, 6026988, 6026996, 6027157, 6027163-6027168, 6029442-6029446, 6048640-6048645
665TWIST170.6535303776683121160919156551-19156560, 19156624-19156653, 19156657, 19156662, 19156680-19156684, 19156687, 19156754-19156787, 19156793-19156921
666DNAH1170.9994842322428571357221923911-21923917
667DFNA570.997317236753864149124742421-24742423, 24742427
668HOXA1370.59725792630677470116727238916-27238945, 27238948-27238950, 27239058-27239070, 27239188-27239485, 27239496-27239515, 27239522-27239592, 27239605-27239638, 27239661
669GLI370.999789162977021474342006078
670PGAM270.963254593175852876244102462-44102463, 44104766-44104767, 44104770, 44104987-44105007, 44105013, 44105066
671GCK70.67523197715917455140144184775-44184776, 44184802-44184809, 44185096-44185097, 44185108-44185150, 44185169-44185201, 44185215, 44185218, 44185230-44185255, 44186078-44186084, 44186087-44186090, 44186097-44186110, 44186118, 44186122, 44186153-44186200, 44187250-44187268, 44187279-44187333, 44187341-44187351, 44187399-44187400, 44187414, 44187417, 44187421-44187422, 44187430, 44189568-44189575, 44189580, 44189590, 44189601-44189602, 44190671, 44191870-44191890, 44191904-44191921, 44192015-44192016, 44192901, 44192927-44192991, 44193021-44193056, 44198683, 44198705-44198719
672CCM270.62172284644195505133545039946-45039952, 45104183-45104186, 45109455-45109465, 45112338, 45112374-45112382, 45113059, 45113077-45113170, 45113869-45114007, 45115376-45115394, 45115407-45115443, 45115452-45115499, 45115517, 45115523-45115656
673EGFR70.9958711808422815363355087036-55087049, 55220303
674GUSB70.87321063394683248195665429310-65429327, 65429388-65429428, 65432835-65432873, 65435328-65435353, 65439315-65439317, 65439323-65439335, 65439355-65439361, 65439537-65439550, 65439581, 65439666, 65439674-65439685, 65439690-65439691, 65439906-65439915, 65439976-65439982, 65441017, 65444401-65444416, 65447057, 65447109-65447143, 65447170
675ASL70.17419354838711152139565541072-65541080, 65546828-65546851, 65546855-65546871, 65546886-65546930, 65546947-65546984, 65547362-65547438, 65547868-65547923, 65548064-65548080, 65548107-65548142, 65548157-65548161, 65551573-65551589, 65551606-65551630, 65551731-65551808, 65552321-65552373, 65552717-65552778, 65553794-65553908, 65554078-65554162, 65554280-65554288, 65554314-65554322, 65554599-65554682, 65556993-65557000, 65557004-65557073, 65557544-65557567, 65557573, 65557588-65557650, 65557755-65557790, 65557811-65557899
676KCTD770.894252873563229287066094067-66094104, 66094123, 66094143-66094195
677NCF170.7212121212121223082572637963-72637991, 72639816, 72639941-72639963, 72639979-72640001, 72640033-72640050, 72641482-72641499, 72643622-72643623, 72643626-72643627, 72643631-72643632, 72643645, 72643660-72643661, 72643665, 72643697-72643710, 72644239-72644266, 72644290-72644294, 72645859, 72645927, 72648648-72648652, 72648685-72648711, 72648724-72648750
678FKBP670.983739837398371698472742451-72742458, 72742666, 72744275-72744281
679ELN70.70896551724138633217573442518-73442599, 73450892, 73455551, 73456944-73456986, 73456995-73457032, 73457343-73457358, 73457461-73457471, 73459619-73459623, 73462843-73462878, 73466080-73466104, 73466117, 73466146-73466149, 73466158-73466169, 73466254-73466273, 73466278-73466299, 73467493-73467542, 73467580-73467597, 73467614-73467615, 73471980-73472001, 73474281-73474328, 73474470-73474480, 73474706-73474722, 73474773, 73477483-73477491, 73477499-73477500, 73477511-73477535, 73477640-73477670, 73477672-73477691, 73477694-73477698, 73477954-73477998, 73478019, 73480274-73480280, 73481100-73481101
680NCF170.7382779198636307117374191692-74191693, 74193498, 74193628, 74193632, 74193647-74193683, 74197285, 74197295, 74197301-74197304, 74197307, 74197312, 74197346, 74197922-74197947, 74197971-74197975, 74202328-74202332, 74202365-74202391, 74202411-74202432, 74202903-74202910, 74202938-74203021, 74203041, 74203044, 74203383, 74203394-74203439, 74203464-74203487, 74203499-74203504
681POR70.437102300538421150204375608779-75608792, 75608865-75608876, 75609685-75609745, 75609751-75609764, 75609773-75609774, 75609804-75609805, 75610366-75610381, 75610411-75610418, 75610486-75610490, 75610866-75610885, 75611588-75611591, 75611598, 75611631, 75612855-75612885, 75612906-75612915, 75612942-75612954, 75613056-75613080, 75613118-75613166, 75614095-75614121, 75614148-75614276, 75614376-75614525, 75614897-75614960, 75614972-75615167, 75615247-75615294, 75615319-75615342, 75615362-75615386, 75615477-75615478, 75615484-75615527, 75615539-75615545, 75615548, 75615655-75615799
682HSPB170.867313915857618261875932030-75932033, 75932079-75932080, 75932119, 75932132-75932134, 75932138, 75932167-75932185, 75932229-75932264, 75932304-75932314, 75932334, 75933487-75933490
683TFR270.96633416458853812406100224960, 100231039-100231045, 100238464, 100238653-100238658, 100238701-100238726, 100238736, 100238739, 100238751-100238787, 100239103
684SLC26A370.9995642701525112295107432361
685CFTR70.99167229349539374443117188713-117188742, 117188760-117188766
686LEP70.994047619047623504127894679-127894681
687IMPDH170.906666666666671681800128034526, 128034548-128034558, 128037025, 128038476-128038483, 128038516, 128038549-128038550, 128038555-128038557, 128040203, 128040419, 128045821-128045838, 128045900-128045909, 128049810-128049891, 128049896-128049921, 128049944, 128049951-128049952
688FLNC70.91134751773057258178128470692-128470930, 128470968-128471043, 128475528, 128475532-128475534, 128477219-128477249, 128477265-128477311, 128477452-128477465, 128477574-128477582, 128477593-128477595, 128477600, 128477747, 128477753-128477760, 128477795-128477796, 128478116-128478117, 128478352-128478360, 128478413, 128478709-128478710, 128478723-128478727, 128480079-128480081, 128480098-128480100, 128480103-128480111, 128480622, 128480645-128480654, 128480659-128480661, 128480923, 128481023, 128481233-128481247, 128481508-128481536, 128481557, 128482288, 128482652-128482663, 128482705-128482731, 128482740, 128482749-128482752, 128482864-128482878, 128482884, 128482900-128482902, 128482953, 128482963-128483003, 128483470-128483472, 128483481, 128483486, 128483497-128483500, 128483884, 128485061, 128488668, 128489592-128489593, 128490948-128490951, 128491609, 128492756-128492791, 128493071, 128493663-128493665, 128494250-128494270, 128494586-128494589, 128494654, 128494840, 128498081-128498083
689ATP6V0A470.9964328180737292523138437397-138437405
690BRAF70.9965232507605482301140624404-140624409, 140624414-140624415
691KCNH270.892241379310343753480150642455-150642456, 150642462, 150644470-150644472, 150644764, 150644828, 150648587-150648607, 150648906, 150648920-150648922, 150649852, 150654379-150654390, 150655153-150655190, 150655195, 150655209-150655237, 150655273, 150655287-150655290, 150655293, 150655368-150655377, 150655385, 150655389, 150655438-150655465, 150671799-150671819, 150671849, 150671858-150671882, 150671890, 150671896-150671905, 150671913, 150671924-150671944, 150671952, 150671967-150672024, 150674926-150675001
692PRKAG270.99356725146199111710151372613-151372618, 151573595-151573599
693SHH70.282217422606199971389155595594-155595943, 155595951-155596161, 155596167-155596394, 155596413, 155599015, 155599038-155599079, 155599095-155599135, 155599141-155599147, 155599162-155599201, 155599214, 155599222-155599236, 155604517-155604526, 155604652-155604655, 155604771-155604816
694MNX170.526533996683255711206156798259-156798263, 156798277, 156798293, 156798360-156798402, 156798413-156798419, 156798452-156798467, 156798480, 156799204-156799215, 156799248-156799275, 156802434-156802448, 156802473-156802487, 156802521, 156802527-156802529, 156802536-156802541, 156802553-156802555, 156802581-156802610, 156802612, 156802615-156802622, 156802640-156803014
695CLN880.9965156794425138611719533, 1728716-1728717
696GATA480.79232505643341276132911565858-11565877, 11565906-11565930, 11565955-11565957, 11565960-11565963, 11565982-11566034, 11566093-11566103, 11566179-11566234, 11566237-11566242, 11566249, 11566264, 11566267-11566270, 11566276-11566293, 11566316-11566338, 11566359, 11566378, 11566389-11566437
697ASAH180.994949494949496118817928809-17928814
698CHRNA280.968553459119550159027320572-27320581, 27320639-27320640, 27320698-27320700, 27320708-27320717, 27320724, 27320906-27320916, 27321372-27321384
699ESCO280.999446290143961180627633935
700FGFR180.99959399106781246338314924
701ADAM980.997560975609766246038854594, 38854601-38854605
702ANK180.9952581664910427569441529993, 41552110-41552116, 41553906-41553918, 41559083, 41559637, 41571708-41571710, 41571714
703THAP180.99688473520249264242693191-42693192
704HGSNAT80.94234800838574110190842995640-42995658, 42995664-42995739, 42995743-42995757
705KCNQ380.98434516991218412619133492717-133492757
706TG80.9998796195979318307133882056
707SLURP180312312143822561-143822694, 143823221-143823340, 143823746-143823803
708CYP11B180.98280423280423261512143956378-143956382, 143958513-143958533
709CYP11B280.98412698412698241512143993950, 143993956, 143994702, 143996536-143996556
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711GPT80.003353454057679414861491145729688-145729849, 145729987-145730076, 145730154-145730166, 145730172-145730262, 145730381-145730514, 145730629-145730872, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732226, 145732293-145732383
712RECQL480.005238489109456936083627145736814-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739491, 145739573-145739746, 145739826-145739909, 145740320-145740456, 145740534-145740626, 145740710-145740841, 145741148-145741237, 145741251-145741274, 145741372-145741755, 145741762-145742148, 145742434-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168
713DOCK890.9952380952381306300404984, 407004-407024, 452053-452060
714VLDLR90.976735316552256126222622190-2622245, 2622268-2622271, 2652940
715GLDC90.97943192948096330636645248-6645254, 6645356-6645386, 6645397-6645410, 6645431-6645439, 6645498-6645499
716GALT90.996491228070184114034646748, 34646759-34646761
717FANCG90.999464954521131186935079501
718TPM290.99883040935673185535682139
719NPR290.9945928753180717314435792423-35792439
720GRHPR90.936170212765966398737424916, 37424962-37424972, 37426585-37426633, 37428522-37428523
721FXN90.944707740916273563371668062-71668081, 71668148-71668162
722AUH90.996078431372554102094124087-94124090
723ROR290.93396892655367187283294486002-94486008, 94495405-94495437, 94495452-94495496, 94495564-94495576, 94495608, 94495686-94495718, 94712182-94712220, 94712230-94712245
724FANCC90.9940369707811610167797873801, 97873806-97873814
725PTCH190.96984346224678131434498220367-98220385, 98270486-98270572, 98270587-98270610, 98270643
726FOXE190.91354723707665971122100616270-100616330, 100616691-100616714, 100616757-100616768
727TGFBR190.99272486772487111512101867538-101867546, 101867555, 101867559
728ABCA190.9995579133510236786107620902, 107620910-107620911
729MUSK90.9988505747126432610113547810, 113547949-113547950
730ALAD90.971802618328328993116150589, 116152873-116152899
731DFNB3190.96659324522761912724117168782-117168791, 117168963-117168980, 117186730, 117240874-117240890, 117266837-117266851, 117266929, 117267001-117267029
732GSN90.9987228607918332349124062188-124062189, 124062213
733NR5A190.70490620490624091386127245057-127245058, 127245131, 127245171-127245191, 127253442-127253476, 127255334-127255381, 127262369-127262372, 127262398-127262399, 127262432-127262457, 127262485-127262493, 127262500-127262516, 127262625, 127262629-127262630, 127262701-127262711, 127262738-127262742, 127262766-127262785, 127262799-127262812, 127262816-127262883, 127262923-127262925, 127265358-127265433, 127265454-127265479, 127265573-127265589, 127265592
734LMX1B90.92046470062556891119129376800-129376859, 129377664-129377691, 129377790
735STXBP190.99282560706402131812130374683-130374694, 130374712
736ENG90.830045523520493361977130577965-130577984, 130578035-130578071, 130578242-130578313, 130580399-130580419, 130580525-130580537, 130580541, 130580623, 130581054-130581058, 130581910-130581914, 130587097-130587138, 130587598-130587613, 130587616, 130587636, 130587990-130588034, 130588067, 130588070, 130588082, 130588088, 130605444, 130616568-130616572, 130616584-130616629
737GLE190.98140200286123392097131267162-131267175, 131267182, 131287631, 131287636-131287657, 131287661
738DOLK90.93259121830551091617131708997-131709041, 131709332, 131709343-131709355, 131709376, 131709381, 131709467, 131709514-131709517, 131709540-131709582
739TOR1A90.9319319319319368999132586199-132586210, 132586289-132586319, 132586340-132586364
740ASS190.93462469733656811239133327717-133327718, 133333840-133333862, 133333916-133333957, 133333969-133333973, 133346243, 133346290-133346291, 133346898, 133370377, 133370380-133370383
741POMT190.839761248852163492178134390854-134390866, 134393876-134393877, 134393903-134393924, 134394224, 134394237-134394248, 134394257, 134394281-134394287, 134394295-134394344, 134394787-134394849, 134395534-134395553, 134395557, 134396755-134396808, 134396817-134396845, 134397434-134397452, 134397477-134397486, 134397569-134397572, 134397582-134397597, 134397609, 134398319-134398320, 134398337, 134398348-134398366, 134398374-134398375
742TSC190.97997138769671703495135771921-135771938, 135771992-135772009, 135772934, 135777042, 135781007-135781014, 135781271-135781286, 135786405-135786412
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744SURF190.45736434108527490903136218768-136218773, 136218784-136218810, 136218836-136218837, 136218916-136218974, 136218984, 136219323, 136219331-136219346, 136219385, 136219433-136219438, 136219462-136219463, 136220614-136220615, 136220619, 136220623, 136220636-136220679, 136220692-136220754, 136220767-136220775, 136220778-136220783, 136221514-136221523, 136221534-136221588, 136221595-136221596, 136221682-136221695, 136221754-136221809, 136223124-136223175, 136223276-136223329
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749LHX390.352357320099267831209139089171-139089200, 139089221-139089257, 139089306-139089438, 139089446-139089457, 139089462, 139089467, 139089512-139089533, 139089560-139089589, 139090498-139090538, 139090545-139090628, 139090638-139090641, 139090644-139090666, 139090754-139090848, 139090863-139090905, 139091524-139091601, 139091641, 139091650-139091693, 139091720-139091723, 139092461-139092462, 139092553, 139092580-139092581, 139092585, 139094792-139094885
750INPP5E90.2444444444444414621935139324729-139324744, 139325454-139325470, 139325487-139325497, 139325553, 139325557-139325569, 139326276-139326398, 139326417-139326437, 139326931-139327026, 139327035-139327038, 139327408-139327419, 139327423-139327444, 139327467-139327527, 139327611-139327635, 139327638-139327642, 139327676-139327681, 139327691-139327731, 139328489-139328586, 139329192-139329235, 139329244-139329246, 139329256-139329257, 139329268-139329284, 139329292-139329303, 139333060-139333871
751NOTCH190.01343244653103875657668139390523-139391960, 139391978-139392010, 139393351-139393388, 139393396-139393448, 139393564-139393711, 139395004-139395299, 139396200-139396365, 139396453-139396540, 139396724-139396774, 139396804-139396841, 139396857-139396940, 139397634-139397782, 139399125-139399556, 139399762-139399913, 139399921-139400333, 139400979-139401038, 139401059-139401091, 139401168-139401425, 139401757-139401827, 139401834-139401889, 139402407-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404413, 139405105-139405257, 139405604-139405723, 139407473-139407584, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
752AGPAT290.052568697729988793837139568204-139568379, 139569187-139569259, 139571037-139571132, 139571413-139571546, 139571555, 139571558, 139571570-139571573, 139571578-139571588, 139571878, 139571882-139571910, 139571924-139572008, 139581628-139581809
753SLC34A390.03555555555555617361800140126155-140126230, 140126525-140126532, 140126542-140126613, 140127027-140127097, 140127116-140127155, 140127236-140127379, 140127456-140127505, 140127512-140127525, 140127530, 140127537, 140127549-140127567, 140127661-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129183, 140130404-140130868
754EHMT190.774441878367988793897140513481-140513494, 140605438-140605476, 140611078-140611634, 140622846-140622879, 140622915-140622918, 140622944-140622945, 140622953, 140638505-140638512, 140671173, 140671253-140671263, 140672352-140672373, 140674102, 140674106, 140674109, 140674123, 140707520, 140707531, 140708883-140708899, 140728814-140728822, 140728837-140728838, 140728846, 140728858-140728869, 140728933-140728948, 140728955-140728976, 140729229-140729235, 140729273-140729347, 140729367, 140729374-140729387, 140729402-140729405
755SHOXX0.44254835039818490879591633-591909, 595353-595561, 605148-605149, 605220, 605367
756CSF2RAX0.2766283524904294413051401597-1401630, 1401656-1401672, 1404671-1404798, 1404809-1404813, 1407418-1407429, 1407652-1407656, 1407659-1407661, 1407664, 1407677-1407697, 1407704-1407707, 1407728-1407767, 1409230-1409247, 1409254-1409255, 1409263-1409264, 1409293-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422912, 1424339-1424360, 1424410-1424420, 1428363-1428372
757ARSEX0.99943502824859117702852951
758KAL1X0.993636808614781320438699969-8699980, 8699986
759GPR143X0.97568627450983112759728782-9728784, 9733715, 9733764-9733786, 9733790-9733792, 9733795
760SMSX0.9872842870118114110121958956-21958969
761ARXX0.9579632918886971168925031287-25031293, 25031544-25031563, 25031592-25031593, 25031603-25031606, 25031654-25031657, 25031661-25031663, 25031667-25031682, 25031718, 25031776-25031779, 25031892-25031901
762RPGRX0.75599884359642844345938145061-38145075, 38145107-38145110, 38145179-38145190, 38145210-38145232, 38145275-38145310, 38145318-38145353, 38145362-38145908, 38145921-38146048, 38146088-38146094, 38146151-38146164, 38146167, 38146224-38146242, 38146455-38146456
763NYXX0.92669432918396106144641332939-41332947, 41333059-41333063, 41333227, 41333234-41333242, 41333311-41333313, 41333362-41333364, 41333386-41333423, 41333511, 41333514-41333550
764CACNA1FX0.95500505561173267593449061617-49061622, 49061742, 49062243-49062254, 49063055-49063084, 49063189-49063209, 49065121-49065124, 49065128, 49065134, 49065774-49065775, 49065778-49065787, 49065811-49065853, 49066097-49066104, 49066137-49066151, 49066213-49066219, 49066761, 49066814-49066830, 49066856-49066863, 49067050-49067057, 49067102-49067137, 49067455-49067468, 49067874-49067883, 49068392-49068396, 49079501-49079507
765FOXP3X0.999228395061731129649107934
766FGD1X0.9993069993072288654521744-54521745
767ARX0.997104596453138276366765159-66765166
768MED12X0.999540863177233653470361098-70361100
769TAF1X0.9924322421682543568270586184-70586186, 70586189-70586210, 70586221-70586223, 70586235-70586240, 70586294-70586302
770SLC16A2X0.9929424538545113184273641394-73641404, 73641632-73641633
771PCDH19X0.998185117967336330699663560-99663565
772XIAPX0.994645247657381494123019737-123019744
773FAM58AX0.9700680272108822735152864443-152864447, 152864473-152864480, 152864483-152864485, 152864512-152864516, 152864519
774SLC6A8X0.659329140461226501908152954030-152954068, 152954089-152954275, 152954285-152954287, 152955842-152955844, 152955891-152955897, 152955937-152955940, 152956877-152956879, 152956906-152956913, 152956934-152956946, 152957488-152957527, 152958517-152958549, 152958629-152958630, 152958917-152958939, 152959361-152959394, 152959401-152959412, 152959605-152959607, 152959617, 152959622, 152959632-152959642, 152959647-152959649, 152959667-152959704, 152959806-152959819, 152959830, 152959837, 152959841-152959859, 152959890-152959893, 152959900, 152960004-152960042, 152960051-152960055, 152960217-152960219, 152960222-152960225, 152960228-152960235, 152960247-152960276, 152960308-152960315, 152960529-152960553, 152960563-152960572, 152960591-152960594, 152960606, 152960635-152960639
775ABCD1X0.933869526362821482238152990723, 152990726-152990728, 152990856-152990862, 152990898, 152990903-152990912, 152990917-152990918, 152990934, 152990938-152990940, 152990984-152990990, 152991005-152991006, 152991152-152991154, 152991297-152991306, 152991366, 152991377, 152991544, 153001967, 153008471-153008486, 153008751-153008791, 153008981-153008987, 153009079-153009108
776L1CAMX0.97509273979862943774153128966-153128971, 153128975, 153128998-153129004, 153130293, 153130562-153130574, 153130918-153130926, 153133770-153133792, 153134348-153134354, 153135891, 153135898-153135901, 153136262-153136265, 153136583-153136594, 153136599-153136604
777AVPR2X0.98297491039427191116153171394, 153171745-153171762
778MECP2X0.96058784235137591497153297866-153297873, 153363061-153363110, 153363116
779OPN1LWX0.98447488584475171095153420104, 153424291-153424302, 153424373-153424376
780OPN1MWX0.92237442922374851095153448176-153448182, 153453340, 153453474-153453496, 153457234, 153458966-153459000, 153459003-153459004, 153459007, 153459080, 153461421-153461432, 153461503, 153461506
781OPN1MWX0.94246575342466631095153485294-153485300, 153490592-153490614, 153494352, 153496091-153496106, 153498539-153498550, 153498621-153498624
782FLNAX0.8316968781470313377944153577374-153577378, 153577403-153577404, 153577819-153577850, 153578424-153578437, 153578445, 153579291-153579297, 153580362-153580380, 153580573-153580578, 153580635-153580650, 153580659, 153580662, 153580672-153580690, 153580763-153580770, 153580974-153580986, 153581034-153581043, 153581140-153581156, 153581385-153581397, 153581459-153581484, 153581528-153581539, 153581542, 153581720-153581756, 153581796-153581811, 153582063-153582069, 153582283-153582293, 153582343-153582349, 153582384-153582387, 153582802-153582812, 153583059-153583079, 153583205-153583206, 153583221-153583223, 153583229, 153583232-153583233, 153583352-153583374, 153585824-153585853, 153585922-153585925, 153585936, 153585952, 153586567-153586594, 153586617-153586650, 153587364-153587382, 153587458-153587465, 153587511, 153587623-153587633, 153587749-153587750, 153587902-153587916, 153587961-153587996, 153588106-153588147, 153588173-153588189, 153588215-153588240, 153588245-153588247, 153588380-153588393, 153588417-153588491, 153588554-153588555, 153588567, 153588570-153588577, 153588589-153588590, 153588791-153588808, 153588869-153588914, 153589683-153589704, 153589725-153589734, 153589803-153589809, 153589839-153589853, 153590042-153590064, 153590117, 153590351-153590354, 153590420, 153590457-153590458, 153590462, 153590468-153590471, 153590610-153590629, 153590791-153590817, 153590823-153590871, 153590901-153590908, 153590937-153590946, 153591061-153591062, 153592401-153592413, 153592462-153592465, 153592662-153592665, 153592963-153592987, 153593578-153593585, 153593812-153593821, 153593853-153593854, 153594399-153594401, 153594406, 153594504-153594508, 153594512, 153594515-153594516, 153594520-153594547, 153594813-153594816, 153594930-153594946, 153595131-153595137, 153595168, 153595203-153595211, 153595796-153595819, 153596030-153596045, 153596210-153596220, 153599249-153599273, 153599320-153599326, 153599390-153599426, 153599477, 153599480-153599511, 153599531-153599537, 153599540, 153599572-153599585
783EMDX0.9111111111111168765153607859-153607868, 153607921-153607926, 153608061-153608082, 153608140-153608154, 153608682-153608688, 153609242, 153609391-153609397
784TAZX0.7680608365019183789153640181-153640272, 153640423-153640435, 153640442-153640446, 153640450-153640452, 153640458-153640522, 153640547-153640549, 153641860, 153641903
785G6PDX0.98778998778999201638153760403-153760413, 153760616-153760619, 153760659-153760663
786IKBKGX0.9979508196721331464153788710, 153788717, 153788733
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3DRD2-S311Chet unknown0.017Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.799 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2.5IL12RB1-R213Whet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
2IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-T244Ihomozygous0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2UGT1A1-G71Rhet unknown0.001Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-R510Qhet unknownUnknown
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
2INSL3-R113Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
2INSL3-R102Hhet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
2INSL3-T60Ahet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2TMPO-Q599Ehomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HFE-H63Dhomozygous0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-D2213Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5TLR4-T399Ihet unknown0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1.5SFTPA1-V19Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5SFTPA1-R219Whet unknown0.085Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1.5CETP-A390Phet unknown0.039Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
1.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5CETP-R468Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), 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
1.5PRNP-E219Khet unknownComplex/Other
protective
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5FCGR2B-I232Thet unknown0.133Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.125ATP6V0A4-M580Thet unknown0.098Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-P1404Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SH3TC2-V1158Ihomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SH3TC2-A468Shomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-V1428Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S229Nhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R199Hhomozygous0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G102Rhomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-EV98DIhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A70Vhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Y69DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-L58YhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G45Ahomozygous0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Lhomozygous0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S35Phomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-VA15APhomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1RSPH9-V261Ihomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MTHFR-R594Qhet unknown0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADRB2-G16Rhomozygous0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-P1987Lhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-Y2232Chomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2345Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-P2528Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-M6159Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1LAMB3-A926Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1LAMB3-N690Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1LAMB3-V527Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
1LAMB3-N181Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.842 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CHIT1-V357V*homozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1PARK2-R334Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PARK2-S167Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPRM1-N40Dhomozygous0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
1JAG1-P871Rhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PCSK1-S690Thomozygous0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MCPH1-P288Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
1MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MCPH1-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AGL-Q229Rhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AGL-R387Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGFB1-T263Ihet unknown0.021Dominant
protective
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYH6-G56Rhomozygous0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V94Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-S78Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC11-R1190Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RPGR-V1144Ihomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP19A1-R264Chet unknown0.079Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1VWF-R2507Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VWF-V1565Lhomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.038 (benign), Testable gene in GeneTests with associated GeneReview
1VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TTF1-G360Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
1LIG4-A3Vhet unknown0.036Dominant
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
1GSN-A129Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CES1-S76Nhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CES1-S12Ahomozygous0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CES1-I7Vhomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CES1-F6Lhomozygous0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CES1-R4Phomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.24 (possibly damaging)
1TGIF1-P292Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OR7G1-Y252Chomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1OR7G1-S249Fhomozygous0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1OR7G1-W141Chomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1OR7G1-Y94Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OR7G1-V83Ahomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C17orf77-C207*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC42-A144Thomozygous0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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)
1RAI1-P165Thomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1OPN1LW-L153Mhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT10-G565GGYGGGSSSGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-G130GSFGGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-G130GSFGGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1G6PD-E347KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75C14orf104-E496Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75C14orf104-E62Dhet unknownUnknown
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
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CDKN1A-S31Rhet unknown0.133Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.75ERCC6-G1322Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.75ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75MYH9-Q1063Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75MYH9-G1055Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-I261Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75AURKA-I57Vhet unknown0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5WDR65-A183Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WDR65-N241Dhet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5ADRB3-W64Rhet unknown0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPC1-R1266Qhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-A1001Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-P1208Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-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
0.5SAA1-G15Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RP1-N985Yhomozygous0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.5RP1-C2033Yhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-R102Khomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CACNG1-G196Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5MKI67-A2171Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-R197Qhomozygous0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAX-D44Ehomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF532-K260Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF532-E761Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5OR2AG1-R299Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.512 (possibly damaging)
0.5LOXHD1-A2036Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-V825Mhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-G632Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-G626Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-V363Ihet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-M1Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOH-W335Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5APOH-V266Lhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5APOH-R154Hhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5APOH-I141Thet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NBN-E185Qhomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-E755Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNJ12-S15Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-T142Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-L211Fhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KCNJ12-E239Khet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S371Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5KCNJ12-E430Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5TG-S523Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RIMS2-S278Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC45B-V60Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC45B-R721Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLFN13-K658Nhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLFN13-E652Khomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN13-S235Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5SPTY2D1-R447Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-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
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT39-L383Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRT39-T341Mhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.158 (benign)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCM1-N159Shet unknown0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-M597Vhet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCM1-R1251Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5APLF-I100Vhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-S224Thet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-Q433Khet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PTCRA-C252Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5MCEE-R104Lhomozygous0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5ZFYVE27-V82Ihet unknown0.032Unknown
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-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5QPCT-H360Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5ABCG8-Y54Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ST6GAL2-I341Vhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ST6GAL2-G154Rhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.358 (possibly damaging)
0.5ST6GAL2-Y29Fhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCT-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
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A43-Y25Shifthomozygous0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CYP3A43-P340Ahomozygous0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.5MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5YSK4-E812Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5YSK4-E676Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5YSK4-Y380Hhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-K421Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
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-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-R948Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-P1492Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5TACC2-V2197Ahet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-A2210Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TACC2-L2261Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-S2909Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EID2-A6Thet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-YR174FPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF101-H127Rhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MSR1-P275Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RYR1-G2060Chet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.345 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PLEKHA4-G742Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.894 (probably damaging)
0.5PLEKHA4-T714Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5PLEKHA4-R597Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5PLEKHA4-P533Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.777 (possibly damaging)
0.5PLEKHA4-I37Vhet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRK5-Q41Lhet unknown0.099Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5GRK5-R304Hhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5CFTR-V470Mhomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARMC10-R29Whet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF577-T375Ihet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5ZNF577-E373Khet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF577-R357Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF577-R346Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ZNF577-Y270Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZNF577-K246Ehomozygous0.472Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LENG8-R279Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NLRP9-I42Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5MFSD6L-S554Lhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MFSD6L-R486Hhomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.913 (probably damaging)
0.5MFSD6L-S331Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MFSD6L-P214Thet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.251 (possibly damaging)
0.5PPT1-I134Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CD99-M166Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.194 (benign)
0.5CD99-N173Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5DHRS4L1-R5Ghomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHRS4L1-R63Shomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHRS4L1-R122Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-M572Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5DBH-A318Shet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-F1152Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-A660Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-S1040Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5MAP3K9-Y646Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-Y4015Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-V878Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-S1077Phet unknownUnknown
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
0.5SNX19-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-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5METTL7A-A134Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TUBA1B-R264Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-R264Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-P263Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TUBA1B-R229Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-R229Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PIP4K2C-A300Ghet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRT78-T306Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5KRT78-V222Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRT78-L92Phet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.5KRT78-G46Rhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.679 (possibly damaging)
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT6B-I365Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6C-V481Ihomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5HELB-L191Phet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HELB-D506Ghet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5HELB-E522Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HELB-P966Lhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.751 (possibly damaging)
0.5HELB-T980Ihet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.615 (possibly damaging)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GJB2-R127Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR133-S523Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC16A2-S107Phomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL2A1-G1405Shet unknown0.069Unknown
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
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TJP2-D482Ehet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP2-M668Ihet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CREBBP-L551Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC28A1-V189Ihomozygous0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-Q237Khomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-R510Chet unknown0.041Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BLM-P868Lhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BLM-V1321Ihet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R928Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IFNE-Q71*het unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FANCA-Q1245Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-S858Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KDM6B-P511Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5KIAA0513-R100Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5CDH16-H257Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5RAB3IL1-H323Yhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ACAT1-A5Phomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AVEN-Q228Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SPATA7-V74Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-E400Dhomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-R125Hhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5STRC-R1521Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF23-T51Ihet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5VPS13C-S2913Nhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-I1132Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5VPS13C-R974Khet unknown0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-R153Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-G845Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
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-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP152-L914Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V1B1-M1Thet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V1B1-E161Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC9A10-V1058Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5SLC9A10-M844Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-Q732Khet unknown0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihet unknown0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5EGF-M708Ihet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EGF-S766Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EGF-E920Vhomozygous0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EGF-Q1136Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UGT8-P226Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5UGT8-I368Mhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT4-Q1257Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5FAT4-H3215Yhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5FAT4-G3524Dhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5FAT4-S3873Nhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRIT3-R66Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LRIT3-S130Nhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5LRIT3-L144Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRIT3-M291Lhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.205 (possibly damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMCN1-L223Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5TET2-P29Rhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NNT-K63Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5NNT-L663Fhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.809 (possibly damaging)
0.5MOCS2-T50Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PAPPA2-P1657Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5HEATR7B2-L1179Phomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-N918Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-V496Ihet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-R330Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5HEATR7B2-W191Qhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LHX4-N328Shomozygous0.406Unknown
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-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERAC1-F47Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA0415-L375Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5RTP4-D109Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5RTP4-C169Yhet unknown0.776Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USH2A-T4888Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WWTR1-T285Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQCB1-C434Yhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-M312Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CSRP1-K108Ihet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.864 (probably damaging)
0.5CDH23-R3Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-K1693Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhomozygous0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-F3122Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AASDH-A747Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AASDH-K368Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AASDH-P93Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5AASDH-I61Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5TLR6-V465Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR6-I120Thet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR1-S602Ihomozygous0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-N248Shomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HTT-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Q74Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-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
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5IQGAP2-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-I724Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HLA-H-P32Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E34Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G181*het unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG-R3738Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y3105Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-D2936Ghet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S2836Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-Q2154Hhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2119Hhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-T454Ahet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-M712Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NES-P1275Lhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-R1133Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NES-P1101Lhet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5NES-V815Ihet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.055 (benign)
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CFB-R340Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFB-R534Qhet unknownUnknown
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
0.5ITGA10-R445Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ITGA10-R725Qhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.243 (possibly damaging)
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HRNR-C1414Yhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HRNR-S799Thet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HRNR-R664Qhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HRNR-Y517Chet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HRNR-G427Dhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
0.5HRNR-M1Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2597Qhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S2541Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2495Shet unknown0.124Unknown
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-H1161Rhomozygous0.477Unknown
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-A173Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTNL2-G454Chet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5BTNL2-P393Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5BTNL2-M380Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.225 (possibly damaging)
0.5BTNL2-P379Lhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BTNL2-S360Ghet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D336Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.583 (possibly damaging)
0.5BTNL2-M295Vhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5BTNL2-D283Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BTNL2-R281Khet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5BTNL2-A202Vhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-T165Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
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-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-QS152HAhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Y1646Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-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
0.5NSD1-V614Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5FIG4-M364Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5SYNE1-G8323Ahomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R5780Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.762 (possibly damaging), 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
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5PCDHB2-L493Phet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5PCDHB2-G760Ehomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.256 (possibly damaging)
0.5GABRA6-T187Mhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOX30-Q429Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5GPA33-V119Fhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5SPINK5-D106Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-D386Nhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MDN1-I4720Thet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign)
0.5MDN1-R4266Ghet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MDN1-A4044Shet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.035 (benign)
0.5MDN1-H3423Yhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5MDN1-S1559Nhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MDN1-I660Vhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.5MDN1-F440Vhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.045 (benign)
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0226-N853Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5KIAA0226-R89Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO3A-I156Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-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
0.5UBE2C-S23Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.463 (possibly damaging)
0.5ZNF335-P655Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5ZNF335-S294Thet unknown0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-K276Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIGLEC1-H919Phet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC1-R464Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIGLEC1-K239Rhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC1-V221Mhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CUBN-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
0.5UBASH3A-S18Ghomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-L28Fhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKR1C3-H5Qhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKR1C3-E77Ghet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKR1C3-P180Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-N303Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D590Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A25136Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D24019Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-F15186Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I14220Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T8694Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R7402Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhet unknown0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-T112Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SSFA2-P836Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5ATIC-T116Shomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STK36-K295Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5STK36-R477Whet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STK36-R583Qhet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-R1112Qhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.124 (benign)
0.5BTBD8-C21Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5STAG3L3-C87Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5STAG3L3-E82Shifthet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEMA3C-V337Mhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5GBP2-S303Ghet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBP2-P285Ahet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBP2-S281Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OBSL1-R1756Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-R408Hhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-H451Rhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhomozygous0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM43-K168Nhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWDE-F1485Chet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C1050Yhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G1009Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K964Nhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C890Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-E869Khet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Y804Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R385*het unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5VWDE-G340Dhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-N256Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DCBLD2-I144Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPOX-V294Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HHIPL2-H391Dhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HHIPL2-V241Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5LMOD3-R83Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5OBSCN-Q502Rhomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-R2529Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5OBSCN-R2812Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OBSCN-R2823Lhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5OBSCN-ES3372DChet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSCN-C4450Rhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4534Hhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-R4662Chet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.838 (possibly damaging)
0.5OBSCN-A7172Vhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5OBSCN-C7748Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCN2-F89Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-R399Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC14L3-R364Chet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.305 (possibly damaging)
0.5SEC14L3-D335Ehet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R214Hhet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5HPS4-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-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375CHRNA2-FY287Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.375TRPM6-S274Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NGF-S43Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.375DSG2-Y459Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375FANCD2-T193Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OPA1-Q61Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.375BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BBS4-E412Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GGH-S145Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-K1128Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IGHMBP2-D894Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375FMO2-D71DDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-F81Shet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-V113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-N413Khet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
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
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM81-F100Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.25TMEM81-R77Qhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TCHH-K1902Qhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCHH-L1258Vhomozygous0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCHH-K1082Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TCHH-D206Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TCHH-L63Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TUBA1A-H50Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1A-W137Rhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1A-L146Fhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRRC56-R291Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRRC56-GP302VAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R52Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHNAK-W15*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDHR5-P543Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDHR5-R357Shomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OVCH1-L970Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OVCH1-T444Ihomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLEKHM2-I32Thet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLEKHM2-E397Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25AKR7L-C185Yhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKR7L-T123Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AKR7L-M65Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DDX60L-M1646Vhet unknown0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX60L-N1488Dhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX60L-E1222Dhomozygous0.912Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX60L-Y959Chomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX60L-C831Rhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX60L-V409Lhomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.25DDX60L-C336Yhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25DDX60L-S102*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ANK2-P2835Shet unknown0.148Unknown
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
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDHB10-E305*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PCDHB10-R543Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDHB10-EA684Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25TMPRSS3-I253Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25ITGA7-R655Hhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA7-I271Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZBP1-A332Vhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.25ZBP1-Q258Rhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZBP1-G102Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZBP1-E88Khet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.08 (benign)
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25BSN-A3863Thet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.235 (possibly damaging)
0.25BSN-A3869Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MST1-V575LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-S565GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-Y184HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-Y1512Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-R356Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-L329Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ADAM3A-R215Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25XKR6-V244Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25XKR6-PS110AWhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25IFNA10-L112Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.25IFNA10-G33Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25IFNA10-S31Thet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.186 (benign)
0.25IFNA10-C20*het unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMC3-P174Qhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-E535Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LAMC3-E544Ghet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-R770Ghomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-S1082Ghomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25BC011779-Q186*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BC011779-T99Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF367-E49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF367-GGG45SG*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25C7orf29-E202Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C7orf29-W223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC3A-I10Shet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-T270Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC3A-M288Thet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-S329Nhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC3A-L334Thet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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)
0.25KIF6-R551Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KIF6-R512Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign)
0.25MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25FANCE-A502Thet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25SLC22A2-S270Ahet unknown0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZAN-P790Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZAN-R1922Hhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZAN-F1968Lhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZAN-P2198Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZAN-W2429Rhet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZAN-G2669Ahet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G581Rhet unknown0.073Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PPL-Q983Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PPL-R819Shomozygous0.930Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-I289Vhet unknownUnknown
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
0.25CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SARM1-D116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SARM1-GS182VAhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), 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
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25STRC-Q84Rhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRPM1-V605Mhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRPM1-A23Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRPM1-M1Thet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1668Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25BAZ2A-T986Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BAZ2A-V498Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC26A10-A193Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.865 (probably damaging)
0.25SLC26A10-W402*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC26A10-L416Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC26A10-L546Vhomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25MYO16-D181Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25MYO16-P831Ahet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.945 (probably damaging)
0.25MYO16-S1571*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), 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
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25C2orf28-D60GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf28-W192*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25CYP20A1-S97Lhet unknown0.885Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP20A1-L346Fhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP20A1-A454Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO5B-R743Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ENOSF1-V399Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ENOSF1-M145Thomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KLK10-L149Phet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KLK10-L141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KLK10-S50Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ENGASE-A5Ehet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ENGASE-V174Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOCOS-T170Ihomozygous0.911Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-S184Ghomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-H225Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25MOCOS-V358Mhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-A510Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0HSPB1-E40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0ITPA-P32Thet unknown0.061Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0TWIST1-S78*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0MEFV-E148Qhet unknown0.012Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
0CACNA1A-A2483Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,739,091,409 bases (95.8% of callable positions, 88.9% of total positions)

Coding region coverage: 30,484,936 bases (91.6% of all genes, 92.8% 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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