hu83BC6A - GET-Evidence variant report

Variant report for hu83BC6A

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1SERPINA1-E288VLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0304889This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.1
2COL4A1-Q1334HLowLikelyLikely pathogenic

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

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
4BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Homozygous
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
5ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
6TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
7SP110-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
8TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
9ITPA-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
10rs1544410LowUncertainUncertain 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
11FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
12CFB-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
13PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Homozygous
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
14NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
15KCNJ11-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
16IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
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
17CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
18NEFL-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
19DMD-R2155WLowLikelyLikely benign

Unknown, Homozygous
0.0269529Probably benign.1
20SERPINA3-P252ALowLikelyLikely benign

Unknown, Heterozygous
An uncommon variant carried by about 1 in 100 Europeans. Claimed by Poller et al. 1993 to cause chronic obstructive pulmonary disease (COPD )in three generations of an affected family, implying a Mendelian hypothesis. Seifart, et al 2007 mentions that publication and states that the association was not replicated in Japanese, and that no association was found in a study of Italian cases.1
21MSH2-G322DLowLikelyLikely benign

Unknown, Heterozygous
0.0110615Although other variants in this mismatch repair gene are associated with cancer, most publications dismiss this variant as a polymorphism (HapMap allele frequency of 1.6%).1
22COL6A3-E1386KLowLikelyLikely benign

Unknown, Heterozygous
Reported likely cause for Bethlem Myopathy by a genetics testing lab, but the publication reporting this (Lampe, et al.) reported observations in patients that aren't different from the general allele frequency according to ExAC data (disproving a disease-causing hypothesis).1
23MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
24GUCY2D-A52SLowUncertainUncertain benign

Recessive, Homozygous
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
25LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
26COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
27DSG2-V56MLowUncertainUncertain benign

Unknown, Heterozygous
Syrris, et al. 2007 reported this in one patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) (no familial data), and implied a high penetrance hypothesis. Posch, et al. 2008 found it in 13 out of 538 patients with dilated cardiomyopathy (DCM), and only 3 of 617 control individuals (p = 0.009); while this may seem significant, the variant is far more common (carried by ~1 in 200) than the diseases ARVC (1 in 2000-5000) and DCM (1 in 2500). This disproves a high penetrance hypothesis, and Posch et al. merely speculate that the variant "may represent a ... susceptibility variant". (No later studies are published confirming this speculation.)1
28COL5A2-P460SLowUncertainUncertain benign

Unknown, Heterozygous
0.0400632Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.1
29PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
30ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
31FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33PKP2-L366PLowUncertainUncertain benign

Unknown, Homozygous
0.221231This variant is a benign polymorphism. 1
34SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
35TXNDC3-I338TLowUncertainUncertain benign

Unknown, Heterozygous
0.0377604Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).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
37TAS2R38-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
38TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30792726 / 33282720 = 92.52%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2197784294558547896138955553-955753, 957581-957722, 957735-957842, 970657-970704, 976045-976260, 976553-976573, 976580-976769, 976776-976777, 976869-976921, 976927-976998, 977008-977082, 977336-977360, 977390-977463, 977473-977534, 978619-978644, 978656-978802, 978815-978825, 978828-978833, 978918-979112, 979244-979403, 979489-979551, 979614-979615, 979619-979633, 979714-979728, 979735-979765, 979793-979796, 979805-979809, 979818-979819, 980571-980578, 980582-980583, 980601-980603, 980606-980624, 980628, 980649-980657, 980739-980769, 980780-980786, 980797, 980810-980853, 980865-980881, 980888-980903, 981121-981123, 981127-981129, 981142, 981146, 981185-981186, 981207-981254, 981344-981390, 981393, 981415, 981449-981468, 981541, 981589, 981592, 981597-981603, 981606-981621, 981631-981645, 981777-981872, 981890-982057, 982083-982115, 982200-982294, 982297-982298, 982309-982311, 982322-982337, 982707-982781, 982790-982834, 982963-983067, 983158-983223, 983230-983238, 983246-983248, 983251-983255, 983392-983745, 984247-984439, 984616-984740, 984755-984800, 984807-984819, 984825, 984830-984831, 984946-984953, 984963-984984, 985005-985014, 985022-985093, 985101-985127, 985136-985175, 985283-985303, 985331-985411, 985613-985625, 985630-985631, 985640, 985650-985695, 985706, 985824-985845, 985850-985859, 985892, 985964-985970, 986106-986121, 986137-986162, 986168-986217, 986643-986749, 986833-986908, 986924-986931, 986954-986983, 986995-987014, 987022-987023, 987108-987133, 987147, 987151, 987154-987195, 989134-989136, 989139-989142, 989147, 989171, 989176, 989180, 989187-989203, 989207-989208, 989215-989217, 989222, 989229, 989264, 989291-989319, 989334-989337, 989342-989344, 989349-989350, 989828-989834, 989858-989859, 989887-989916, 990217, 990228-990361
2GABRD10.17071376011773112713591950863-1950930, 1956381-1956402, 1956408-1956436, 1956446-1956476, 1956493, 1956773-1956840, 1956957-1957177, 1959028, 1959045-1959098, 1959596-1959600, 1959611-1959731, 1960550-1960631, 1960642, 1960648-1960658, 1960669-1960705, 1960990-1961021, 1961030-1961066, 1961077-1961083, 1961110-1961132, 1961167-1961201, 1961422-1961528, 1961549-1961564, 1961580-1961605, 1961620-1961651, 1961654-1961656, 1961659-1961660, 1961662-1961666, 1961670-1961719
3PEX1010.60856269113153849812337254-2337273, 2337925-2337956, 2337973-2337993, 2337999-2338000, 2338160-2338183, 2338244-2338248, 2338253-2338255, 2338267-2338294, 2338319-2338334, 2339986-2340047, 2340157-2340159, 2340184-2340215, 2340255-2340276, 2341818, 2341826, 2343830-2343941
4NPHP410.8862415323522548742815923996-5924033, 5924439-5924450, 5924549-5924577, 5925168-5925172, 5925252-5925267, 5925273, 5927901, 5934557-5934558, 5935061-5935084, 5935121-5935131, 5935147, 5947381-5947387, 5947487-5947517, 5950942-5950946, 6027365, 6027374-6027406, 6027421-6027423, 6029147-6029171, 6029203-6029227, 6029233-6029260, 6029308-6029319, 6038330-6038473, 6046248-6046280
5ESPN10.6565302144249588125656485016-6485309, 6488301-6488357, 6488377-6488401, 6488429, 6488433, 6500354-6500378, 6500383-6500385, 6500389, 6500397, 6500416-6500426, 6500452, 6500457-6500489, 6500696-6500707, 6500712-6500734, 6500741-6500799, 6500833-6500868, 6500994, 6501026, 6501032, 6501069-6501070, 6505752-6505753, 6505845-6505866, 6505881, 6505891-6505892, 6505896-6505902, 6505914-6505949, 6508740, 6508808-6508857, 6508874-6508906, 6508964, 6509033-6509086, 6509100-6509127, 6509139-6509145, 6512112-6512148, 6520059-6520067, 6520161-6520163
6PLEKHG510.6892442772028899131896527630-6527632, 6527885-6527909, 6527965-6527972, 6528008-6528050, 6528075-6528134, 6528169-6528179, 6528184, 6528202, 6528231, 6528234-6528237, 6528240, 6528256, 6528261, 6528264, 6528323, 6528383-6528393, 6528512, 6528516, 6528542-6528543, 6529183-6529185, 6529221-6529222, 6529280-6529301, 6529463, 6529466-6529469, 6529498, 6529501, 6529627-6529632, 6529678, 6529686-6529688, 6529692-6529702, 6529705, 6529735-6529736, 6530331-6530370, 6530400, 6530616-6530664, 6530679-6530682, 6530690-6530703, 6530803-6530815, 6530820, 6530841-6530867, 6530889-6530944, 6531050-6531059, 6531081-6531100, 6531106, 6531112-6531116, 6531120-6531126, 6531134-6531153, 6531587-6531609, 6531689-6531690, 6531857, 6532613-6532615, 6532627-6532671, 6533115-6533119, 6533122-6533143, 6533153-6533184, 6533353, 6533408-6533425, 6533466-6533468, 6534080, 6534083-6534086, 6534089, 6534111-6534138, 6534193-6534224, 6534520-6534605, 6534624, 6534629-6534647, 6535130, 6535158-6535198, 6535522-6535523, 6535556, 6535562, 6536011-6536013, 6537601-6537604, 6537637-6537638, 6537641, 6537648-6537666, 6537699-6537703, 6556553-6556629, 6557380-6557383
7PEX1410.9179894179894293113410659331-10659356, 10684437-10684450, 10684475-10684480, 10689677, 10689686-10689687, 10689726-10689737, 10689746-10689752, 10689794-10689800, 10690027-10690044
8TARDBP10.942168674698872124511082322-11082362, 11082575-11082605
9MASP210.67782629791363664206111086963, 11087661, 11094885-11094886, 11097750-11097774, 11102932-11102959, 11102967-11102987, 11102993-11103017, 11103040-11103079, 11103396-11103411, 11103423-11103521, 11103533-11103569, 11103582-11103590, 11105465-11105478, 11105500-11105533, 11105552-11105596, 11106620-11106626, 11106638-11106692, 11106715-11106790, 11106948-11106964, 11106970, 11107003-11107031, 11107056-11107078, 11107102-11107140, 11107162-11107176, 11107260-11107264
10MTHFR10.998985286656522197111854856, 11856378
11PLOD110.9647435897435977218411994837, 12010523-12010525, 12023674-12023687, 12024356-12024357, 12024760, 12024763, 12025585-12025586, 12025603, 12026330-12026351, 12030727-12030730, 12030746-12030771
12CLCNKA10.499515503875971033206416349180-16349214, 16350363-16350369, 16351258-16351280, 16351379-16351385, 16352604-16352608, 16352733-16352734, 16352737, 16353083-16353096, 16353101, 16353223-16353226, 16353232-16353236, 16353262-16353270, 16353806-16353808, 16353853, 16353856-16353860, 16353885-16353930, 16354513-16354516, 16354586-16354614, 16355256-16355285, 16355299-16355304, 16355310, 16355333-16355340, 16355621-16355693, 16355711-16355768, 16356226-16356256, 16356270-16356285, 16356460-16356533, 16356547-16356570, 16356956-16357133, 16357141-16357150, 16357157-16357169, 16358205-16358258, 16358268-16358338, 16358698-16358743, 16358751-16358757, 16358763-16358786, 16358938-16358961, 16358971-16358972, 16358983-16359001, 16359695-16359724, 16359736-16359751, 16360106-16360113, 16360137, 16360144, 16360147-16360153
13CLCNKB10.79748062015504418206416370988-16371007, 16371011, 16371051-16371052, 16372057-16372109, 16372122-16372127, 16372130-16372132, 16372140-16372142, 16372145, 16372150-16372152, 16373154-16373158, 16376161, 16376190-16376191, 16376394-16376401, 16377021, 16377093-16377095, 16377460-16377494, 16377996-16378018, 16378037-16378042, 16378205-16378213, 16378215-16378218, 16378244-16378288, 16378693-16378708, 16378716-16378727, 16378738, 16378740-16378741, 16378758-16378759, 16378768-16378804, 16378814-16378834, 16378838, 16378863-16378905, 16380150-16380179, 16380193-16380196, 16382248-16382253, 16383364, 16383368, 16383382-16383388
14ATP13A210.7499294383291886354317312762-17312763, 17312773-17312808, 17312835-17312839, 17313000-17313006, 17313015-17313017, 17313039-17313078, 17313103-17313110, 17313319, 17313343, 17313370-17313373, 17313397-17313403, 17313429-17313439, 17313601-17313637, 17313645-17313657, 17313671-17313699, 17313745, 17314723-17314729, 17314854, 17314889-17314894, 17314929-17314952, 17316195-17316203, 17316387-17316398, 17316767-17316773, 17318229-17318252, 17318301, 17318309-17318314, 17318578-17318579, 17318595-17318616, 17318781-17318784, 17318802-17318804, 17318811, 17318849-17318854, 17318981-17318999, 17319024, 17319027-17319052, 17320126-17320138, 17320187-17320194, 17320313-17320319, 17322471-17322563, 17322596-17322626, 17322637, 17322774-17322781, 17322901-17322913, 17322936-17322991, 17323527, 17323530-17323560, 17323591-17323598, 17323637-17323662, 17326517-17326523, 17326538-17326634, 17326741-17326779, 17326792-17326807, 17327002, 17328532-17328558, 17328588-17328589, 17328806, 17328816, 17331280-17331291, 17338232
15ALDH4A110.88475177304965195169219199363, 19200984, 19201003, 19201006-19201012, 19201064, 19201068-19201069, 19201914-19201924, 19201927-19201934, 19202863-19202865, 19202896, 19202929, 19203967-19203973, 19203983-19204014, 19204045-19204078, 19208209-19208211, 19208223-19208225, 19208313-19208317, 19208341, 19209802, 19209819-19209885, 19212037-19212040, 19215893
16PINK110.9702176403207352174620960085-20960122, 20960187, 20960209-20960212, 20960354-20960362
17ALPL10.9650793650793755157521889603-21889611, 21889670, 21889673, 21890590, 21890602, 21894639, 21896850-21896867, 21900201-21900223
18HSPG210.8848664238008515171317622149821-22149834, 22149843-22149855, 22149858-22149871, 22149892-22149907, 22150125-22150132, 22150135-22150136, 22150164-22150169, 22150174, 22150177-22150212, 22150614-22150619, 22150642-22150651, 22150799-22150823, 22150838-22150869, 22151030-22151062, 22151073, 22151076, 22151080-22151108, 22151232-22151272, 22154390, 22154406-22154408, 22154574-22154611, 22154620, 22154623, 22154633, 22154756-22154768, 22154791-22154792, 22154844-22154845, 22155344-22155350, 22155392, 22155404-22155419, 22155499-22155504, 22155550-22155551, 22155556-22155561, 22155951-22156000, 22156091-22156097, 22156538-22156542, 22156550-22156578, 22165349-22165351, 22165416, 22168076-22168080, 22168083, 22168112, 22168596, 22168604, 22168837-22168851, 22169302-22169308, 22170704-22170706, 22172618-22172621, 22172624, 22172745-22172748, 22173040-22173047, 22173937-22173945, 22174531-22174534, 22175142, 22175145, 22175151, 22175388, 22175396, 22175409, 22175441, 22175444, 22175460-22175499, 22175511, 22176938, 22176942-22176946, 22178160, 22178316-22178324, 22178360-22178374, 22178592-22178598, 22178616, 22178619-22178634, 22178644, 22178694-22178696, 22179517-22179524, 22180760-22180763, 22180789, 22180808, 22181122-22181152, 22181201-22181203, 22181211, 22181214, 22181360-22181362, 22181399, 22181416, 22181421, 22182028, 22182049, 22186059-22186100, 22186133, 22186136-22186141, 22186167-22186169, 22186328, 22186336-22186367, 22186379-22186383, 22186390, 22186393, 22186411-22186450, 22186453-22186461, 22186465, 22186487, 22186670-22186672, 22186695-22186728, 22188250-22188254, 22188281-22188327, 22188545-22188557, 22190593-22190627, 22190647-22190649, 22190685, 22191336-22191343, 22191366-22191414, 22191454, 22191506-22191532, 22191541-22191566, 22191810-22191836, 22192233-22192254, 22192266, 22192270-22192272, 22192301, 22198687, 22198690-22198694, 22198702-22198713, 22198775-22198780, 22198842, 22198846-22198853, 22199113-22199114, 22199118-22199163, 22199227, 22199237, 22199240, 22199244-22199245, 22199507-22199539, 22199584, 22200916, 22200974-22201018, 22202136-22202154, 22202521, 22202524, 22202529, 22204682, 22206655, 22206716-22206747, 22206856-22206883, 22206897, 22206942, 22206956-22206958, 22207001-22207011, 22207252-22207261, 22207923-22207925, 22211082-22211090, 22211143-22211145, 22213757, 22263648-22263710
19WNT410.9270833333333377105622469339-22469415
20RPL1110.99068901303538553724019219-24019222, 24019227
21HMGCL10.975460122699392497824134668-24134674, 24134703, 24134718-24134721, 24134770-24134777, 24134780, 24137235-24137236, 24151905
22FUCA110.9243397573162106140124186309-24186314, 24194427-24194459, 24194499-24194500, 24194504, 24194507-24194514, 24194519-24194520, 24194608-24194622, 24194678, 24194689-24194699, 24194726, 24194738-24194762, 24194773
23LDLRAP110.99892125134844192725889632
24SEPN110.8878896882494187166826126722-26126904, 26135610-26135613
25YARS10.996219281663526158733252044-33252046, 33252641-33252642, 33256815
26HPCA10.974226804123711558233359418-33359432
27KCNQ410.88266283524904245208841249766-41249827, 41249851-41249865, 41249877-41249879, 41249891-41249892, 41249955-41249964, 41249976-41249979, 41249983-41250008, 41250011, 41250039-41250040, 41250050, 41283955-41283962, 41284198-41284233, 41284250-41284263, 41284274-41284324, 41296772, 41296950, 41296953, 41296967-41296968, 41298754-41298758
28CLDN1910.967407407407412267543201555-43201557, 43203902-43203907, 43205631-43205643
29LEPRE110.95884215287291221143212369-43212414, 43212431, 43212435-43212439, 43212943-43212944, 43213962-43213965, 43215880-43215885, 43232273, 43232395-43232408, 43232505-43232513, 43232579-43232581
30STIL10.997931212826488386747717309, 47725975, 47725990-47725992, 47726051-47726052, 47735459
31ORC110.999613302397531258652841194
32CPT210.9898836621143120197753676935-53676938, 53679079-53679094
33DHCR2410.981947130883328155155337050-55337052, 55337056, 55352583, 55352587-55352596, 55352599-55352601, 55352755, 55352784-55352792
34PCSK910.94901394901395106207955505549-55505558, 55505576-55505578, 55505587, 55505704, 55509595, 55509598, 55521669-55521693, 55521737, 55521763-55521770, 55521828, 55521837-55521847, 55521858-55521862, 55524216-55524237, 55524263-55524278
35LEPR10.9908519153802232349866058434-66058439, 66070899-66070914, 66083694-66083703
36COL11A110.99706798607293165457103363733-103363734, 103364251-103364255, 103364280-103364287, 103364291
37GSTM110.54946727549467296657110230496-110230531, 110230792-110230813, 110230854, 110231302, 110231724-110231726, 110231884-110231947, 110232903-110232988, 110233076-110233129, 110233135-110233163
38AMPD110.9995543672014312244115216589
39HSD3B210.9991063449508511119119964955
40NOTCH210.981796116504851357416120539665-120539714, 120539834-120539840, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610
41PRPF310.99512670565302102052150315926-150315928, 150316641-150316646, 150325387
42FLG10.53791235844412563112186152275968-152275991, 152276257-152276270, 152276283-152276323, 152276416, 152276423, 152276455-152276459, 152276465, 152276590, 152276655-152276703, 152276718-152276719, 152276842-152276843, 152276907, 152276911, 152276929-152276934, 152276940, 152276974-152277009, 152277068-152277078, 152277095-152277119, 152277155-152277197, 152277234-152277272, 152277294-152277318, 152277348, 152277390, 152277425-152277473, 152277499, 152277502, 152277507, 152277519-152277520, 152277528, 152277532, 152277644, 152277682, 152278046-152278052, 152278162-152278168, 152278215-152278255, 152278371, 152278390, 152278430-152278437, 152278598-152278599, 152278607, 152278665-152278686, 152278715, 152278917, 152279001, 152279090-152279091, 152279095, 152279134-152279140, 152279190, 152279211-152279265, 152279322-152279386, 152279402-152279428, 152279441-152279442, 152279485-152279508, 152279553, 152279562, 152279565, 152279588, 152279593, 152279598, 152279622, 152279626-152279630, 152279634, 152279670-152279671, 152279723-152279732, 152279740-152279780, 152279802, 152279805-152279812, 152279830-152279895, 152279902-152279933, 152279949-152280026, 152280077-152280104, 152280132-152280168, 152280176-152280179, 152280183, 152280186, 152280252-152280300, 152280315-152280353, 152280370-152280372, 152280412-152280414, 152280463-152280489, 152280497-152280586, 152280594-152280658, 152280670-152280705, 152280718-152280766, 152280781-152280806, 152280817-152280872, 152280879-152280885, 152280926-152280966, 152281017-152281058, 152281070-152281163, 152281177-152281179, 152281272-152281333, 152281384, 152281396-152281398, 152281404, 152281411-152281412, 152281442-152281483, 152281509-152281611, 152281618-152281663, 152281673-152281714, 152281720-152281880, 152281904-152282133, 152282154-152282232, 152282239-152282346, 152282361, 152282369-152282388, 152282395, 152282405, 152282408-152282474, 152282477-152282513, 152282534-152282578, 152282592-152282632, 152282640, 152282658-152282676, 152282693-152282694, 152282699, 152282721-152282818, 152282834-152282855, 152282889, 152282895, 152282902-152282905, 152282910-152282922, 152282951-152282957, 152282964-152283183, 152283203-152283309, 152283336-152283366, 152283383-152283412, 152283419-152283487, 152283501-152283572, 152283597-152283627, 152283634-152283686, 152283693-152283750, 152283781, 152283784, 152283787-152283788, 152283801, 152283818-152283929, 152283948-152283980, 152283988-152284024, 152284041-152284128, 152284160-152284280, 152284300-152284394, 152284405-152284410, 152284413, 152284427-152284459, 152284487-152284489, 152284504-152284509, 152284516, 152284532, 152284549-152284550, 152284596-152284658, 152284672-152284683, 152284691-152284759, 152284772-152284782, 152284809-152284819, 152284842-152284885, 152284922-152284951, 152284973-152285095, 152285115-152285192, 152285198-152285255, 152285294, 152285302, 152285309, 152285339-152285369, 152285375-152285463, 152285498-152285507, 152285512, 152285519-152285520, 152285534-152285607, 152285618-152285653, 152285676-152285725, 152285738-152285742, 152285746-152285759, 152285768-152285769, 152285787, 152285798-152285799, 152285802-152285815, 152285837, 152285844-152285857, 152285884, 152285891, 152285897, 152285901-152285904, 152285919-152285988, 152285999-152286021, 152286024, 152286042-152286074, 152286098-152286212, 152286222, 152286228-152286286, 152286333-152286415, 152286426-152286484, 152286499, 152286526, 152286550, 152286596-152286635, 152286710-152286722, 152286777-152286825, 152286843-152286846, 152286865, 152286885, 152286914-152286941, 152286966, 152286978, 152286981, 152286994-152287037, 152287065-152287075, 152287168-152287183, 152287195, 152287825-152287829, 152287871, 152287880-152287889, 152287899-152287904, 152287921
43CHRNB210.9993373094764711509154544408
44DPM310.997289972899731369155112623
45GBA10.878863826232251451197155184237, 155184362-155184363, 155184395, 155184430, 155184891, 155185354-155185357, 155186192-155186197, 155186200-155186208, 155186211-155186213, 155186218, 155186236, 155186336-155186385, 155186652-155186678, 155186717-155186745, 155187141-155187147, 155187788, 155188182
46GBA10.9993792675356911611155205021
47PKLR10.98666666666667231725155264516, 155269963, 155269977-155269997
48LMNA10.9979949874686741995156108291, 156108294-156108295, 156108300
49SEMA4A10.9925634295713172286156131145-156131157, 156131166-156131167, 156131223-156131224
50NTRK110.9979088247595152391156830794-156830798
51PPOX10.98953974895397151434161139458-161139459, 161139705-161139717
52NDUFS210.9956896551724161392161176293-161176298
53F510.99580524344569286675169510337-169510343, 169510472-169510492
54DARS210.995356037151791938173810032-173810039, 173819497
55NPHS210.96006944444444461152179544744-179544746, 179544768, 179544785, 179544787-179544796, 179544806-179544810, 179544847-179544869, 179544896-179544898
56LHX410.97016197783461351173180217420-180217445, 180217480-180217481, 180217527-180217531, 180217570, 180243524
57HMCN110.99994085639934116908185987443
58CFHR110.998992950654581993196797204
59CACNA1S10.998577018854585622201030589, 201047137-201047143
60CHIT110.9964311206281251401203191426-203191430
61LAMB310.9994316567206623519209800308-209800309
62USH2A10.998398359920562515609216496837-216496858, 216497598, 216595459, 216595465
63PSEN210.95694135115071581347227071406-227071409, 227071480, 227071485-227071496, 227071525-227071529, 227071565-227071600
64ADCK310.786008230452674161944227149090-227149111, 227149156-227149160, 227149218-227149231, 227152701, 227152710-227152737, 227152745-227152748, 227152751, 227152777-227152794, 227152801-227152974, 227153021-227153062, 227153071-227153099, 227153372-227153373, 227153393-227153435, 227169825-227169836, 227170629-227170633, 227170695-227170696, 227171795-227171806, 227174428-227174429
65GJC210.1704545454545510951320228345460-228345465, 228345480-228345510, 228345516-228345532, 228345539-228345594, 228345601-228345700, 228345746-228345866, 228345878-228345937, 228345966-228345969, 228345998, 228346002-228346026, 228346034-228346178, 228346185-228346271, 228346281-228346300, 228346306-228346493, 228346515-228346518, 228346523-228346526, 228346533-228346693, 228346702-228346762, 228346776-228346779
66ACTA110.895943562610231181134229567308-229567309, 229567747-229567791, 229567896-229567901, 229567927, 229568017-229568049, 229568094-229568096, 229568120-229568123, 229568156-229568178, 229568406
67LYST10.998334210064881911406235907352-235907355, 235944237-235944251
68RYR210.99698067632854514904237729980, 237819193-237819199, 237819260-237819269, 237821244-237821269, 237821322
69NLRP310.9996785599485713111247582265
70NET1100.97152428810725117915454678, 5454701-5454727, 5454749-5454771
71GATA3100.989513108614231413358097635-8097638, 8100706-8100713, 8100717, 8100727
72OPTN100.994809688581319173413151224, 13151244-13151251
73PHYH100.9705014749262530101713323095-13323101, 13341979-13341984, 13342009-13342024, 13342028
74DCLRE1C100.9990379990382207914981867-14981868
75PTF1A100.683890577507631298723481460, 23481510-23481536, 23481589, 23481630-23481654, 23481663-23481699, 23481711-23481713, 23481717, 23481720-23481721, 23481732-23481770, 23481781-23481783, 23481794-23481814, 23481817-23481820, 23481857-23481873, 23481876-23481888, 23481891-23481900, 23481915-23481958, 23481974, 23481977, 23481983-23481984, 23482027-23482044, 23482048, 23482101-23482118, 23482124-23482146
76PDSS1100.9455128205128268124826986650-26986698, 26986713-26986715, 26986769, 27031430-27031436, 27031488-27031495
77RET100.91210762331839294334543572707-43572779, 43595994-43595998, 43596088-43596089, 43596139, 43598057-43598065, 43600409, 43600420-43600426, 43600460-43600483, 43600511-43600517, 43600526, 43600585-43600637, 43601840-43601845, 43606856-43606862, 43607589-43607590, 43608334-43608343, 43609113, 43609932-43609939, 43610062-43610063, 43615023-43615047, 43615110-43615111, 43615114, 43615156-43615162, 43615176, 43615530-43615538, 43615637-43615651, 43619130-43619140, 43619171-43619172, 43619248, 43620343
78ERCC6100.998661311914326448250740821-50740825, 50740836
79CHAT100.9630618602581283224750822273-50822278, 50822346-50822385, 50822415-50822421, 50822457-50822482, 50822504-50822507
80PCDH15100.999830191883171588955587188
81EGR2100.9930118798043310143164573019-64573021, 64573471-64573473, 64573486-64573489
82KIAA1279100.99946409431941186670760258
83NODAL100.9818007662835219104472195575, 72195578-72195579, 72201317-72201332
84PRF1100.9820143884892130166872358249-72358252, 72358380, 72358427-72358436, 72358491-72358504, 72360150
85SLC29A3100.99369747899169142873082579-73082583, 73082585-73082586, 73111348-73111349
86CDH23100.969968178202073021005673406332-73406336, 73439199-73439210, 73439215, 73442253, 73442266-73442267, 73442281, 73447444-73447447, 73447458-73447469, 73455264-73455282, 73461797-73461809, 73461894-73461900, 73462334-73462383, 73462447-73462451, 73464778-73464780, 73464792, 73464798, 73464838, 73464843, 73464886-73464887, 73468900-73468906, 73490287, 73537443-73537444, 73537498-73537524, 73537589-73537596, 73537946-73537966, 73548770, 73550959-73550975, 73551019-73551026, 73569764-73569780, 73571124-73571126, 73571172-73571173, 73571713-73571721, 73572263-73572289, 73572341-73572351
87PSAP100.9898412698412716157573578833, 73579537-73579539, 73579542-73579548, 73579647, 73587870-73587873
88VCL100.999706314243761340575802907
89LDB3100.92994505494505153218488441340-88441346, 88466394-88466402, 88466468-88466474, 88469679, 88469773-88469793, 88469807, 88476134-88476189, 88476211-88476219, 88476277-88476280, 88476309, 88476324-88476341, 88476379-88476384, 88476420, 88476423, 88476470-88476480
90GLUD1100.9928443649373912167788854364-88854370, 88854451-88854454, 88854480
91PLCE1100.9984078737878111690996006150-96006155, 96006364-96006368
92HPS1100.95584045584046932106100177364-100177383, 100177421, 100177425-100177429, 100177956-100177981, 100177984, 100177988-100177989, 100183370, 100183412-100183418, 100186983-100186998, 100189583-100189589, 100190423-100190427, 100193800, 100193807
93FBXW4100.9935431799838681239103371415-103371421, 103371498
94HPS6100.904209621993132232328103825246-103825252, 103825262-103825299, 103825378-103825425, 103825439-103825470, 103825492-103825494, 103825497-103825503, 103825693-103825719, 103825791-103825795, 103826041-103826062, 103826115-103826137, 103826983-103826988, 103826994-103826997, 103827255
95SUFU100.9972508591065341455104263990-104263992, 104264004
96CYP17A1100.9980353634577631527104595090-104595092
97COL17A1100.977525589675121014494105793708, 105793939, 105794383-105794389, 105795047, 105795253-105795258, 105798196, 105801253, 105803284, 105803288, 105811970, 105815605, 105815663-105815681, 105816771, 105816775, 105816787-105816789, 105816801, 105816815-105816818, 105816834-105816864, 105816890, 105816905, 105816909-105816925
98SHOC2100.99256718124643131749112769008-112769019, 112769579
99BAG3100.96585648148148591728121411189-121411229, 121411328-121411345
100ARMS2100.9660493827160511324124214492-124214502
101HTRA1100.724878724878723971443124221169-124221274, 124221280-124221446, 124221464-124221544, 124221556, 124221570-124221610, 124221614
102UROS100.9561403508771935798127477438-127477464, 127477541-127477543, 127477547, 127484673, 127484677-127484679
103HRAS110.69824561403509172570532636-532653, 532702-532704, 532708-532725, 532728, 532746-532748, 532753, 533453-533474, 533478, 533510, 533513, 533842-533882, 533938-533944, 534212-534256, 534279-534288
104TALDO1110.804733727810651981014747482-747555, 747561-747578, 755954, 763344-763346, 763389-763418, 763427-763455, 763511, 763514-763518, 763777-763780, 763885-763888, 763892-763895, 763900, 763906, 763914, 763923-763944
105SLC25A22110.18106995884774796972791919-791955, 791963-792047, 792055-792068, 792142-792217, 792304-792340, 792352-792413, 792422-792424, 792450-792458, 792553-792727, 792870, 792873-792874, 792887, 792890, 792898, 792902, 792924-792988, 793535-793536, 793550-793619, 794458-794475, 794495, 794505-794509, 794776-794826, 794837-794880, 794887-794901, 794987-795006
106PNPLA2110.621122112211225741515819719-819905, 821649, 821737, 821740, 821836-821839, 821842-821843, 822022-822023, 823527-823546, 823567-823587, 823752-823761, 823792-823838, 823854-823855, 823998-824017, 824039-824041, 824046-824050, 824059-824084, 824113-824116, 824120-824130, 824314-824318, 824322-824338, 824347-824348, 824402-824435, 824528-824574, 824588-824609, 824615, 824630-824649, 824660, 824666, 824678, 824716-824736, 824772-824773, 824789, 824820-824851
107CTSD110.6384180790960544812391774734-1774740, 1774786-1774787, 1774797-1774809, 1774843-1774856, 1774860-1774865, 1774870-1774878, 1774894-1774900, 1775033-1775052, 1775224-1775228, 1775234-1775271, 1775279-1775307, 1775323-1775336, 1775348-1775368, 1778587-1778622, 1778680-1778691, 1778762-1778786, 1780208-1780209, 1780212-1780213, 1780219-1780230, 1780265-1780270, 1780746-1780748, 1780754, 1780761-1780762, 1780772-1780776, 1780805-1780840, 1780860-1780866, 1782576-1782596, 1782660-1782684, 1785022-1785089
108TNNI2110.293260473588343885491861454-1861468, 1861633-1861674, 1861758-1861886, 1862049-1862102, 1862261-1862372, 1862385-1862396, 1862686-1862709
109TNNT3110.20205920205926207771944284-1944291, 1946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951058, 1953700, 1953739, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955784-1955785, 1955793-1955818, 1955838-1955841, 1955866-1955885, 1956059-1956131, 1956146-1956149, 1958193-1958233, 1959668-1959722
110H19110.8907563025210111710712017627-2017640, 2017755-2017761, 2017764-2017766, 2017820-2017835, 2017992-2018001, 2018020-2018047, 2018072-2018082, 2018144-2018153, 2018159, 2018168-2018171, 2018273-2018274, 2018336, 2018350-2018358, 2018426
111IGF2110.281293952180035117112154217-2154281, 2154294-2154404, 2154411-2154444, 2154747-2154895, 2156597-2156605, 2156630, 2156638, 2156641-2156644, 2156662-2156708, 2161365-2161391, 2161398-2161410, 2161413-2161415, 2161459-2161473, 2161485, 2161496-2161526
112TH110.073650793650794145915752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189322, 2189329-2189397, 2189721-2189864, 2189886-2189895, 2190880-2190920, 2190927-2190956, 2190965-2190966, 2190977-2191057, 2191071-2191101, 2191920-2192000, 2192952-2192954, 2192957-2193003
113KCNQ1110.6287543082225575420312466329-2466714, 2591860, 2591882-2591895, 2591905-2591938, 2592555-2592619, 2592628-2592633, 2593243-2593254, 2593264-2593298, 2593305-2593326, 2593332-2593339, 2594099-2594122, 2594129-2594131, 2594135-2594193, 2604669-2604691, 2606521-2606527, 2608809-2608823, 2608836, 2608877-2608904, 2608913-2608922, 2799236
114CDKN1C110.0557308096740278989512905234-2905288, 2905313-2905363, 2905906, 2905920-2906526, 2906536-2906719
115HBD110.9842342342342374445255652-5255658
116SMPD1110.993143459915611318966411936-6411947, 6415837
117SBF2110.998018018018021155509838462, 9868548, 10013962-10013970
118KCNJ11110.996589940323964117317409466-17409469
119USH1C110.9914814814814823270017519742, 17522612-17522618, 17523033-17523039, 17530903-17530910
120HPS5110.9914454277286129339018339314-18339342
121SLC6A5110.997493734335846239420648297-20648302
122ANO5110.9897884755652828274222277033-22277043, 22277052-22277068
123FANCF110.997333333333333112522646990-22646992
124WT1110.93307593307593104155432417805, 32456585-32456591, 32456618-32456639, 32456656, 32456662, 32456666-32456726, 32456739-32456746, 32456816, 32456829, 32456845
125PDHX110.999335989375831150634991727
126ALX4110.9846278317152119123644286444-44286461, 44286681
127SLC35C1110.9564393939393946105645827414-45827439, 45827446-45827448, 45827641-45827645, 45827794, 45827819-45827825, 45827829-45827830, 45832567-45832568
128PEX16110.9894332372718511104145937371-45937376, 45939282-45939286
129F2110.56661316211878810186946741360, 46741368-46741370, 46742079, 46742083-46742091, 46742345-46742349, 46744730-46744758, 46744772, 46744807, 46744818-46744833, 46744986, 46744990, 46745003, 46745008-46745057, 46745064, 46747409-46747439, 46747459-46747508, 46747517-46747542, 46747555-46747609, 46747619-46747659, 46747684-46747686, 46747692-46747723, 46748048-46748069, 46748093-46748151, 46748164-46748176, 46748261-46748296, 46748342-46748361, 46748373-46748387, 46749546-46749641, 46749662, 46749668-46749687, 46749702, 46749708-46749710, 46749713, 46750214-46750227, 46750281-46750286, 46750297-46750387, 46750945-46750950, 46750959, 46750963, 46750991, 46750994, 46751023, 46751035-46751047, 46751050-46751054, 46751061-46751071, 46751078-46751083, 46751090-46751094, 46760604, 46760608, 46760620
130MADD110.999797734627831494447350652
131MYBPC3110.66379084967321286382547353623-47353648, 47353701, 47353716, 47353719, 47354129-47354163, 47354208, 47354253, 47354400-47354424, 47354456-47354480, 47354778, 47354787, 47355124, 47355134-47355142, 47355179-47355197, 47356593-47356604, 47356618-47356651, 47356675-47356703, 47356736-47356745, 47357428-47357445, 47357498-47357524, 47357555, 47359299-47359308, 47360110-47360111, 47360118-47360119, 47360217-47360230, 47360951-47360952, 47361212-47361215, 47361314-47361341, 47362570-47362583, 47362716-47362745, 47362779-47362790, 47363542-47363551, 47363706-47363707, 47364140-47364147, 47364166, 47364177-47364184, 47364219-47364224, 47364439-47364461, 47364473, 47364573, 47364600-47364637, 47364682-47364699, 47365045-47365111, 47365126-47365173, 47367765-47367768, 47367795-47367809, 47367812-47367816, 47367819, 47367826-47367829, 47367835-47367887, 47367894-47367898, 47367904, 47367910-47367914, 47368178-47368195, 47368973-47368974, 47368976-47369002, 47369017-47369024, 47369202-47369206, 47369231, 47369446-47369456, 47369976-47370092, 47371325-47371373, 47371423-47371473, 47371565-47371637, 47371649-47371653, 47372057-47372106, 47372123-47372166, 47372822, 47372826, 47372868-47372905, 47372912-47372955, 47372979-47372999
132SLC39A13110.9847670250896117111647431762-47431764, 47431828, 47436014-47436025, 47436851
133RAPSN110.87974172719935149123947459530-47459553, 47460293-47460301, 47460330-47460348, 47460380-47460387, 47460415, 47460437, 47460443, 47463182-47463230, 47463392, 47463411, 47463425-47463435, 47469521-47469542, 47469648, 47470357
134NDUFS3110.98867924528302979547602500-47602506, 47603961-47603962
135SERPING1110.996673320026615150357381925-57381929
136BEST1110.994880546075099175861723403-61723411
137SLC22A12110.41456077015644973166264359038-64359051, 64359066-64359115, 64359131-64359134, 64359137, 64359168-64359214, 64359232-64359233, 64359236, 64359246, 64359255-64359269, 64359272, 64359286, 64359299-64359348, 64359357-64359358, 64359387-64359430, 64360267-64360291, 64360308-64360354, 64360877-64360904, 64360915-64360938, 64360999-64361008, 64361015-64361031, 64361107-64361131, 64361143, 64361153-64361195, 64361208-64361227, 64361252-64361254, 64361259-64361275, 64365988-64366010, 64366017-64366019, 64366022-64366024, 64366030, 64366033-64366062, 64366091, 64366285-64366290, 64366293, 64366296, 64366305-64366364, 64367148-64367362, 64367839-64367877, 64367914, 64367930-64367947, 64368228-64368263, 64368324-64368364, 64368374
138PYGM110.87030446816924328252964520545-64520548, 64520557-64520565, 64520571-64520574, 64520997-64521060, 64521352-64521363, 64521418-64521420, 64521444-64521447, 64521472-64521497, 64521787, 64521803-64521804, 64522260-64522261, 64522300-64522308, 64522762, 64522974, 64522978, 64523003-64523010, 64525269-64525309, 64525754-64525792, 64526142, 64527128-64527137, 64527140-64527155, 64527162, 64527165-64527176, 64527211-64527257, 64527282-64527286, 64527335-64527339
139MEN1110.998917748917752184864572550-64572551
140EFEMP2110.99549549549556133265635871-65635875, 65635996
141CST6110.913333333333333945065779590, 65779605, 65779625, 65779655, 65779693-65779696, 65780301-65780306, 65780368, 65780373, 65780376-65780397, 65780407
142SPTBN2110.87885124773456869717366456162-66456164, 66460836, 66463753-66463754, 66463758, 66468007-66468010, 66468133-66468134, 66468139-66468144, 66468191, 66468201, 66468229-66468252, 66468266-66468278, 66468284, 66468302-66468338, 66468364-66468405, 66468445-66468467, 66468511-66468533, 66468621-66468652, 66468697-66468700, 66468733-66468737, 66468740-66468753, 66469058, 66469140, 66469144-66469149, 66472075, 66472136-66472158, 66472191-66472225, 66472282-66472299, 66472335-66472342, 66472403, 66472481-66472482, 66472488-66472492, 66472512-66472559, 66472585-66472596, 66472609-66472611, 66472622, 66472625-66472634, 66472685-66472725, 66472805, 66472843, 66472847, 66472868-66472899, 66472914-66472917, 66472926-66472939, 66473245-66473252, 66473286-66473308, 66474990-66475027, 66475043-66475095, 66475106-66475137, 66475156-66475168, 66475202-66475223, 66475246-66475275, 66475618-66475651, 66475668-66475671, 66475676, 66475696-66475717, 66475722, 66475733, 66475742, 66475760, 66475764, 66475767, 66478078-66478079, 66478104-66478132, 66478153, 66478167, 66478189-66478210, 66478473-66478481, 66481792-66481793, 66481796, 66482829-66482833, 66483322-66483323, 66483420
143PC110.90359061351428341353766616481-66616501, 66616538-66616540, 66616789, 66617707-66617719, 66617722-66617731, 66618270-66618275, 66618379-66618387, 66619984-66620008, 66620038-66620076, 66631251-66631270, 66631321, 66631324, 66631333, 66631340-66631356, 66633675-66633690, 66633734-66633738, 66633785, 66633792-66633794, 66637786, 66637804-66637807, 66637810-66637811, 66637864-66637897, 66638786-66638793, 66638830, 66638868-66638911, 66639169-66639180, 66639186-66639226, 66639307, 66639497
144CABP4110.7282608695652222582867222902, 67222952, 67222965, 67222983-67223006, 67223086-67223118, 67223170-67223171, 67223186, 67223198-67223221, 67223248, 67223659-67223685, 67223845, 67223873, 67223882, 67223896-67223897, 67223903-67223913, 67225073-67225074, 67225084, 67225121-67225134, 67225870-67225918, 67225928-67225955
145AIP110.3071500503524768899367254487-67254529, 67254542, 67254562, 67254573, 67254577-67254579, 67254588, 67254604-67254616, 67254623, 67254626-67254627, 67254643-67254644, 67256738-67256771, 67256780-67256840, 67256877-67256882, 67256890, 67256897, 67256906-67256926, 67257520-67257685, 67257787-67257928, 67258259-67258272, 67258282-67258283, 67258293-67258464
146NDUFS8110.5197472353870530463367799626, 67799637-67799675, 67799753-67799754, 67799760, 67799771-67799803, 67800390-67800470, 67800578-67800614, 67800651-67800665, 67800675-67800679, 67800702-67800725, 67803720-67803732, 67803788, 67803812-67803817, 67803820, 67803931-67803964, 67804050-67804060
147TCIRG1110.72683513838748681249367808739-67808768, 67808789-67808794, 67809220-67809231, 67809234-67809244, 67810110-67810149, 67810184-67810209, 67810218-67810272, 67810276, 67810281-67810284, 67810307-67810309, 67810423-67810472, 67810845-67810867, 67810931-67810964, 67811038-67811044, 67811301-67811347, 67811349-67811350, 67811648-67811664, 67811735-67811749, 67811798-67811808, 67812458-67812463, 67812521-67812522, 67812527-67812546, 67814999-67815014, 67815436-67815439, 67816380-67816384, 67816548-67816591, 67816628-67816629, 67817130-67817158, 67817187-67817193, 67817206-67817233, 67817244-67817255, 67817451-67817473, 67817611-67817631, 67817689-67817697, 67817954-67817984, 67818026-67818047, 67818124-67818129
148LRP5110.87768151815182593484868080183-68080246, 68080252-68080273, 68131215-68131227, 68131267-68131271, 68131295-68131314, 68131320-68131335, 68131361-68131365, 68131386, 68131389-68131404, 68133043, 68133111, 68133138-68133141, 68153855-68153861, 68153895-68153920, 68153930-68153931, 68154031-68154045, 68154099-68154100, 68154103, 68154177-68154180, 68171005-68171030, 68171122-68171125, 68174084, 68174095, 68177382-68177391, 68177475, 68177531-68177561, 68177586-68177608, 68178932, 68179068-68179088, 68181255-68181270, 68181352-68181361, 68181366-68181375, 68181427, 68183895, 68192576-68192577, 68193626-68193629, 68201220, 68201223, 68201228, 68204453-68204467, 68205949-68205957, 68206055-68206056, 68206059, 68207327-68207357, 68207363-68207384, 68213941-68213947, 68213997-68213998, 68216298-68216312, 68216337-68216343, 68216407, 68216412-68216438, 68216447-68216480, 68216509-68216537
149CPT1A110.94745908699397122232268525123-68525130, 68525150-68525170, 68529127-68529131, 68530114, 68540733-68540760, 68540802-68540804, 68540808-68540813, 68548121-68548127, 68552283-68552310, 68552350-68552352, 68571478-68571489
150IGHMBP2110.991616364855825298268671473-68671485, 68704161-68704162, 68704353, 68704503-68704506, 68704532-68704536
151MYO7A110.697653429602892010664876868017-76868025, 76870542-76870562, 76873923, 76883837-76883880, 76883889-76883915, 76885802-76885831, 76885847-76885877, 76885903-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890851, 76890863-76890999, 76891420-76891527, 76892426-76892527, 76892538-76892635, 76892997-76893010, 76893022-76893037, 76893065-76893139, 76893154, 76893159-76893200, 76893469-76893495, 76893504, 76893526-76893567, 76893580-76893600, 76893612-76893645, 76894113-76894149, 76894182-76894202, 76895650-76895671, 76895674-76895676, 76895735-76895739, 76895749, 76900389-76900390, 76900418, 76900432-76900515, 76901065-76901184, 76901742-76901765, 76901775-76901783, 76901787-76901795, 76901807, 76901821-76901846, 76901849, 76901868-76901870, 76901906-76901915, 76903117-76903149, 76903160-76903170, 76903178-76903184, 76903211-76903214, 76903257-76903288, 76903312-76903317, 76905399, 76905424-76905459, 76905545-76905549, 76905553-76905558, 76908550-76908553, 76908575, 76909540-76909587, 76909629-76909666, 76910580-76910589, 76910731, 76910735, 76910766-76910769, 76910772-76910780, 76910784, 76912531-76912546, 76912636, 76912641, 76912646, 76913385, 76913391-76913394, 76914127, 76914191, 76914208, 76914230-76914236, 76918424-76918447, 76919475-76919479, 76919778, 76919781, 76922351-76922374, 76925008
152FZD4110.9578686493184668161486665917-86665919, 86665930-86665934, 86666041-86666047, 86666075-86666127
153MTMR2110.9880952380952423193295591718-95591733, 95657100, 95657106-95657111
154TRPC6110.9992846924177422796101454149, 101454156
155DYNC2H1110.99992275009656112945103270466
156ATM110.9993457638207469171108188143-108188148
157DLAT110.9917695473251161944111896973-111896988
158APOA1110.9340796019900553804116706621-116706627, 116706724-116706726, 116706795-116706797, 116706834-116706837, 116706859-116706894
159SCN4B110.9228529839883653687118023328-118023376, 118023385-118023388
160SLC37A4110.97097378277154311068118895920-118895921, 118895927, 118895939-118895946, 118896000-118896006, 118897776-118897778, 118897790-118897792, 118898455-118898461
161ROBO3110.9995193463109824161124735475, 124739407
162WNK1120.935655336410694607149862735-862739, 862747-862788, 862797, 862811-862844, 862870-862876, 862883-863007, 863057-863093, 863101-863129, 863136-863162, 863188-863233, 863258-863277, 863293-863338, 863416-863454, 995002-995003
163CACNA2D4120.987697715289984234141906602, 1906606-1906624, 1906647-1906668
164CACNA1C120.9769852156683415165612566834-2566836, 2675602-2675642, 2675661-2675666, 2675706-2675712, 2676755-2676762, 2676799-2676848, 2676894-2676926, 2705122, 2705126, 2787017
165VWF120.990642027955467984426058300, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166078-6166082, 6166112-6166118
166TNFRSF1A120.986111111111111913686438595-6438609, 6438766-6438768, 6438780
167SCNN1A120.985825331504343121876464581-6464582, 6472668-6472696
168TPI1120.90266666666667737506976731-6976777, 6976803-6976816, 6976827-6976831, 6976840-6976845, 6978459
169ATN1120.99916036943745335737045892-7045894
170ABCC9120.9961290322580618465022025647-22025664
171KRAS120.99649122807018257025380200, 25380266
172FGD4120.999130812690132230132764107-32764108
173PKP2120.9956245027844111251433049489, 33049495-33049502, 33049654-33049655
174LRRK2120.9939345991561246758440618938-40618942, 40619078, 40619082, 40702440-40702469, 40761511-40761519
175COL2A1120.9943996415770625446448371870-48371873, 48372422-48372424, 48374355-48374357, 48374444, 48374746, 48376667, 48377513-48377519, 48377870-48377873, 48398080
176MLL2120.968460334657525241661449422927, 49424131-49424134, 49424146, 49424469-49424471, 49425138-49425139, 49425195, 49425249-49425251, 49425659-49425665, 49425719, 49425780-49425791, 49426565-49426574, 49426666-49426686, 49426726-49426755, 49426836-49426864, 49426896-49426926, 49426942-49426959, 49427006-49427023, 49427042-49427078, 49427109, 49427120-49427123, 49427147-49427156, 49427171-49427208, 49427236-49427248, 49427259-49427335, 49430935-49430939, 49431014, 49431095, 49431240-49431244, 49431285-49431323, 49431498, 49431527, 49431541-49431581, 49431778-49431786, 49431797-49431798, 49431884, 49431981-49431989, 49432224, 49432249, 49432256-49432261, 49432409-49432410, 49432529-49432537, 49433278, 49433303-49433314, 49433318, 49433329, 49433999, 49434074, 49434081
177DHH120.992443324937039119149483841, 49484265-49484267, 49488243-49488247
178TUBA1A120.923245614035093545649522306, 49522310, 49522317, 49522383-49522414
179AQP2120.914215686274517081650344697-50344703, 50344796-50344798, 50344812, 50344941-50344942, 50347956, 50349222-50349228, 50349246-50349280, 50349341, 50349351, 50349358-50349363, 50349384-50349387, 50349390-50349391
180ACVRL1120.9874338624338619151252307343-52307361
181KRT81120.87351778656126192151852680273-52680275, 52681027-52681037, 52681915-52681919, 52682999-52683005, 52683901, 52683953, 52683957-52683968, 52683995-52683997, 52684001-52684002, 52684040-52684070, 52684903, 52684906, 52684945-52684970, 52685047-52685077, 52685103-52685141, 52685176-52685193
182KRT86120.91649555099247122146152695744-52695776, 52695877-52695883, 52695994-52696000, 52696040-52696044, 52696047, 52696055, 52696893-52696923, 52696952, 52696986-52696994, 52696997, 52697001, 52697008, 52697082, 52697949-52697955, 52699125, 52699129-52699130, 52702188-52702195, 52702262, 52702361, 52702367-52702369
183KRT83120.999325236167341148252715000
184KRT6B120.92625368731563125169552845397-52845438, 52845524-52845577, 52845798-52845826
185KRT6C120.9634218289085562169552865295-52865300, 52867094, 52867105, 52867230-52867276, 52867457-52867463
186KRT6A120.9911504424778815169552884735, 52886681-52886687, 52886908-52886914
187KRT2120.999479166666671192053045777
188KRT4120.997759103641464178553207740-53207743
189RDH5120.99895506792059195756114969
190SUOX120.9938949938949910163856397635-56397642, 56397997, 56398186
191RPS26120.87356321839084434856436250, 56436253-56436258, 56436313, 56436346-56436381
192KIF5A120.997095837366899309957944161, 57944165-57944172
193LEMD3120.9963450292397710273665563394-65563397, 65563620-65563622, 65563625-65563627
194CEP290120.9986559139784910744088472955, 88532938-88532945, 88535001
195TMPO120.9889688249400523208598925475-98925476, 98925481-98925484, 98927719-98927735
196SLC25A3120.995408631772275108998987817-98987819, 98987822, 98995000
197SYCP3120.953586497890333711102131049-102131052, 102131581-102131609
198GNPTAB120.99443118536197213771102153851-102153867, 102224337-102224340
199UNG120.9405520169851456942109535515-109535532, 109535549-109535575, 109535592-109535595, 109536245, 109547765-109547769, 109547773
200MMAB120.980079681274915753109999609, 110011221-110011223, 110011231-110011233, 110011241-110011243, 110011256, 110011272-110011274, 110011278
201MVK120.998320738874921191110034246-110034247
202TRPV4120.918195718654432142616110221429-110221432, 110221437, 110221444-110221446, 110221460-110221467, 110221510-110221519, 110221523, 110221536, 110221580-110221583, 110224523-110224595, 110226232, 110226328-110226330, 110230170, 110230179, 110230591-110230592, 110230597, 110238523-110238545, 110238561-110238563, 110240858-110240875, 110246112, 110246164, 110246196-110246237, 110252338-110252344, 110252347-110252350, 110252583
203ATP2A2120.98721636305529403129110719595-110719597, 110719632-110719668
204ATXN2120.834855403348556513942112036588-112036827, 112036847-112037151, 112037172-112037199, 112037205-112037237, 112037246-112037249, 112037258-112037297, 112037318
205SDS120.9797365754812620987113834970-113834971, 113835128-113835137, 113836405-113836411, 113836610
206ACADS120.9983857949959621239121174899, 121175208
207HNF1A120.98417721518987301896121416627-121416629, 121416633, 121434191-121434201, 121435325, 121437315, 121438882-121438894
208HPD120.9940778341793671182122287643-122287649
209ATP6V0A2120.99611046285492102571124197113, 124197123-124197130, 124197226
210PUS1120.880062305295951541284132414268-132414296, 132414313, 132414452-132414456, 132414471-132414472, 132414478-132414482, 132414485-132414496, 132414510-132414529, 132414539, 132414560, 132414615, 132414643, 132414647-132414649, 132414659, 132414677-132414679, 132423760, 132425965-132426015, 132426047, 132426089-132426091, 132426112, 132426125, 132426215, 132426228, 132426242-132426243, 132426282, 132426299, 132426312, 132426315, 132426318, 132426505, 132426510
211GJB2130.99265785609398568120763178, 20763234, 20763635-20763637
212SACS130.99577874818049581374023907420-23907432, 23908433-23908439, 23910784-23910787, 23911348, 23912778, 23912987-23912998, 23914043, 23914232-23914238, 23914703-23914709, 23915259, 23915263, 23915652-23915654
213B3GALTL130.9605878423513759149731774222-31774280
214BRCA2130.9999025056059311025732911839
215FREM2130.9982124079915917951039261948-39261952, 39452437-39452448
216SUCLA2130.9727011494252938139248571063-48571073, 48575316-48575317, 48575329-48575338, 48575350-48575364
217RB1130.999282382490132278748878049-48878050
218ATP7B130.999317871759893439852523871-52523873
219ZIC2130.846153846153852461599100634325-100634339, 100634391-100634417, 100634431-100634442, 100634446, 100634448-100634450, 100634516-100634518, 100634581-100634605, 100634686-100634716, 100634812-100634816, 100635008-100635010, 100635060-100635066, 100637691, 100637703-100637705, 100637710-100637778, 100637808-100637848
220COL4A1130.99241516966068385010110864267-110864269, 110959305-110959310, 110959334-110959362
221F7130.2134831460674210501335113760156-113760219, 113765004-113765162, 113768161-113768169, 113768196, 113768201-113768202, 113768228, 113768243-113768265, 113768272-113768274, 113769984-113770114, 113771080-113771082, 113771085-113771101, 113771126, 113771136, 113771140, 113771146-113771152, 113771181, 113771787-113771811, 113771826-113771832, 113771846-113771887, 113771892, 113771904-113771910, 113772727-113772763, 113772772-113773105, 113773131-113773140, 113773146-113773266, 113773275-113773316
222F10130.744376278118613751467113777170-113777235, 113795269-113795287, 113798209-113798239, 113798264-113798283, 113798369, 113803230-113803235, 113803240, 113803251, 113803266-113803307, 113803328-113803333, 113803339-113803340, 113803371, 113803381, 113803413-113803420, 113803448, 113803454, 113803457, 113803500, 113803532-113803580, 113803586-113803625, 113803660-113803709, 113803750, 113803774-113803798, 113803831
223GRK1130.588061465721046971692114321708-114321742, 114321769-114321770, 114321772-114321796, 114321800-114321861, 114321877-114321879, 114321892-114321907, 114321916-114322015, 114322035-114322068, 114322080-114322082, 114322085-114322161, 114322185-114322214, 114322225-114322237, 114322240-114322274, 114322296, 114322389, 114324004, 114324015-114324018, 114324064-114324086, 114324096-114324129, 114325814-114325834, 114325864-114325912, 114325924-114325971, 114426054-114426092, 114426108-114426130, 114435943-114435959, 114436037
224TEP1140.9851598173516117788420841176-20841183, 20841249, 20841263-20841271, 20841297-20841306, 20841474, 20841512-20841513, 20841542-20841547, 20841550, 20843948-20843955, 20843958, 20844008, 20844011-20844013, 20844016, 20844309-20844315, 20851757-20851790, 20854698-20854714, 20856111-20856117
225PABPN1140.8078175895765517792123790690, 23790700-23790706, 23790755, 23790758, 23790774, 23790793-23790807, 23790851-23790937, 23790943-23790987, 23791011-23791029
226MYH6140.9922680412371145582023852484, 23854188, 23857398-23857400, 23858107, 23858207-23858237, 23858259, 23858607-23858609, 23858621, 23863309, 23867950, 23867964
227NRL140.977591036414571671424550537-24550552
228TINF2140.997787610619473135624711490-24711492
229TGM1140.9820700896495544245424718609-24718616, 24723472-24723474, 24724306-24724312, 24724402-24724412, 24724634-24724636, 24725207-24725208, 24727789-24727792, 24731455-24731460
230FOXG1140.83265306122449246147029236676-29236680, 29236686-29236707, 29236710, 29236732-29236949
231COCH140.9764065335753239165331344178, 31344262-31344299
232NKX2-1140.9767827529021628120636986830-36986852, 36986907-36986911
233FANCM140.94647795672686329614745605357, 45605365, 45605372-45605381, 45605438-45605446, 45605684-45605685, 45606365, 45618040-45618046, 45618103-45618131, 45618135, 45620609-45620611, 45620630, 45620668-45620675, 45620678-45620704, 45620731, 45623234-45623240, 45623900-45623905, 45623930-45623949, 45623974-45624015, 45624576-45624596, 45624625-45624639, 45628299-45628301, 45636300, 45639851-45639852, 45642295, 45642350, 45642370, 45644274-45644317, 45644350, 45644509-45644541, 45644888-45644889, 45645823, 45645826, 45650698-45650699, 45652981-45653000, 45653080, 45653088, 45668075-45668076
234C14orf104140.9737470167064466251450100666, 50100669, 50100835, 50100939-50100942, 50101076-50101112, 50101366-50101370, 50101526-50101542
235L2HGDH140.994252873563228139250713841, 50713861, 50713866, 50713871-50713874, 50734477
236ATL1140.997593261131174166251094998-51095001
237GCH1140.904382470119527275355369099-55369103, 55369207-55369252, 55369275-55369295
238SYNE2140.99893842887473222072464483275-64483278, 64488690-64488703, 64488710, 64491906-64491908
239RDH12140.99579390115668495168189387-68189390
240ZFYVE26140.9975065616797919762068215258, 68241756-68241766, 68242690-68242692, 68274552-68274555
241PSEN1140.9886039886039916140473637646, 73637655, 73637658-73637661, 73640399-73640400, 73653565-73653566, 73653571, 73659475-73659479
242VSX2140.991712707182329108674706449-74706457
243EIF2B2140.999053030303031105675471603
244ESRRB140.9934512115258710152776957793, 76964690-76964698
245POMT2140.9875721260541528225377745191-77745193, 77786854-77786866, 77786969-77786980
246GALC140.99805636540334205888459402-88459405
247ATXN3140.997237569060773108692559660-92559662
248AMN140.005139500734214413551362103389026-103389061, 103390048-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
249INF2140.2074666666666729723750105167703, 105167717-105167766, 105167778-105167834, 105167852-105168093, 105169442-105169470, 105169487-105169513, 105169522-105169531, 105169556-105169557, 105169632-105169720, 105169741-105169791, 105170253-105170286, 105172372-105172513, 105173247-105173299, 105173305-105173364, 105173383-105173388, 105173590-105173599, 105173658-105173719, 105173726-105173810, 105173822-105174276, 105174285-105174339, 105174774-105174924, 105175011-105175014, 105175029-105175034, 105175048-105175068, 105175636-105175657, 105175672-105175718, 105175957-105176042, 105176425-105176525, 105177274-105177275, 105177288-105177318, 105177418-105177523, 105177966-105177972, 105178003-105178036, 105178800-105178890, 105179165-105179175, 105179194, 105179198-105179231, 105179237, 105179242-105179250, 105179253, 105179256-105179262, 105179266-105179289, 105179302-105179329, 105179544-105179547, 105179569, 105179582, 105179599-105179646, 105179782-105179789, 105179826-105179837, 105179844, 105179848, 105179859-105179860, 105179870, 105179892-105179938, 105180540-105180573, 105180584, 105180591-105180639, 105180649-105180652, 105180659-105180660, 105180677-105180681, 105180687-105180820, 105180852-105180872, 105180917-105181113, 105181125-105181154, 105181166, 105181180, 105181189-105181193, 105181635-105181647, 105181673-105181676
250NIPA1150.8202020202020217899023086234-23086411
251UBE3A150.9946727549467314262825615777-25615783, 25616620-25616626
252IVD150.9875097580015616128140698029-40698044
253CHST14150.91069849690539101113140763424-40763427, 40763446-40763495, 40763515-40763526, 40763551-40763553, 40763588, 40763671-40763675, 40763721, 40763758-40763764, 40763804-40763821
254CDAN1150.9761129207383388368443028667-43028681, 43028705-43028751, 43028816, 43028828, 43028959-43028974, 43029279-43029286
255STRC150.9941816816816831532843892269-43892275, 43901474-43901494, 43910867-43910869
256SPG11150.999727223131482733244918569, 44918574
257DUOX2150.97805035506779102464745392328-45392331, 45392418-45392419, 45393006, 45393017-45393027, 45393464, 45393995, 45398465-45398472, 45399611-45399612, 45403669-45403687, 45403717, 45403765, 45403776, 45404009-45404039, 45404055-45404073
258GATM150.9827044025157222127245670609-45670630
259CEP152150.999798590130921496549076199
260CLN6150.966880341880343193668521853-68521883
261NR2E3150.99637681159424110472103860-72103862, 72103866
262HEXA150.9930817610062911159072668128-72668132, 72668267, 72668279-72668283
263HCN4150.82198228128461643361273614850-73614855, 73614882-73614885, 73614897-73614908, 73615009-73615022, 73615030-73615031, 73615058-73615059, 73615063, 73615066-73615067, 73615073, 73615091-73615096, 73615422-73615428, 73615455-73615459, 73615465-73615471, 73616430-73616432, 73659848-73659855, 73659859-73659863, 73659870, 73659954-73659955, 73659961, 73659998-73660025, 73660047-73660342, 73660355-73660528, 73660556-73660611
264PSTPIP1150.0367705835331731205125177287949, 77310489-77310589, 77310798-77310807, 77310819-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
265FAH150.99682539682544126080445464-80445467
266RPS17150.99754901960784140882823390
267RPS17150.99754901960784140883207733
268FANCI150.999247554552293398789836052-89836054
269POLG150.9766129032258187372089866658-89866667, 89866698, 89867438, 89867441-89867455, 89871696-89871697, 89871704-89871708, 89872021, 89872032, 89872040, 89873501-89873503, 89876445-89876454, 89876669-89876675, 89876677-89876684, 89876743-89876751, 89876828-89876839, 89876909
270MESP2150.86599664991625160119490319611-90319615, 90319733-90319762, 90319766, 90319787-90319795, 90319809, 90319825-90319869, 90319882, 90319927-90319937, 90320011-90320025, 90320099-90320118, 90320146, 90320149, 90320182-90320188, 90320398-90320406, 90321419-90321422
271BLM150.9934179595674728425491337459-91337462, 91337478-91337479, 91337536, 91337539-91337559
272IGF1R150.9973196881091611410499192887-99192894, 99500594, 99500597-99500598
273HBZ160.30769230769231297429202909, 202943-202996, 203905, 203952-203981, 203997-204086, 204095, 204271-204387, 204397-204399
274HBA2160.59440559440559174429222912-222938, 222952-223006, 223175, 223181-223182, 223224, 223233-223276, 223287-223328, 223477, 223530
275GNPTG160.798474945533771859181401967-1402018, 1402103-1402121, 1402130-1402158, 1402243-1402307, 1411945, 1412108, 1412255-1412257, 1412263, 1412270, 1412273, 1412277-1412283, 1412287, 1412293, 1412471, 1412530, 1413035
276CLCN7160.43217535153019137324181496632-1496674, 1496696-1496697, 1496700-1496715, 1497010-1497087, 1497393-1497480, 1497504-1497569, 1497656-1497689, 1497709-1497715, 1498356-1498384, 1498399-1498485, 1498682-1498718, 1498725-1498767, 1498967-1499061, 1499078-1499094, 1499286-1499328, 1500498-1500531, 1500551-1500667, 1501624-1501717, 1502761-1502793, 1502820, 1502825-1502894, 1503846-1503885, 1504423, 1504438-1504445, 1505135-1505157, 1505174, 1505179-1505181, 1505208-1505221, 1505226-1505228, 1505732-1505745, 1505765, 1505768, 1505775, 1506114-1506187, 1507255, 1507734, 1507752, 1507757, 1509108-1509133, 1509181, 1524835-1524847, 1524850-1524935, 1524942-1524947, 1524957-1524975
277IGFALS160.090062111801242175819321840601-1840690, 1840707-1840859, 1840871-1841321, 1841339-1841366, 1841376, 1841398-1841684, 1841697-1841766, 1841774-1841775, 1841799-1842021, 1842028-1842196, 1842205-1842406, 1842415-1842418, 1842421, 1842430-1842471, 1842476-1842480, 1842500-1842516, 1843641-1843653
278GFER160.0679611650485445766182034220-2034477, 2034748-2034936, 2035870-2035877, 2035899-2036017, 2036028-2036029
279TSC2160.11965339233038477554242098617-2098682, 2098715-2098718, 2098721-2098736, 2098744-2098752, 2100405, 2100410, 2100432-2100487, 2103373-2103435, 2103447-2103453, 2104297-2104307, 2104342, 2104359-2104363, 2104399, 2104434-2104439, 2105493, 2106197-2106224, 2106645-2106681, 2106736, 2108748-2108779, 2108790-2108825, 2108847-2108874, 2110671-2110727, 2110739-2110814, 2111872-2111919, 2111943-2111995, 2112498-2112514, 2112521-2112601, 2112973-2113054, 2114273-2114428, 2115520-2115530, 2115536-2115542, 2115550-2115636, 2120457-2120579, 2121511-2121586, 2121595-2121617, 2121785-2121935, 2122242-2122314, 2122325-2122364, 2122850-2122984, 2124201-2124390, 2125800-2125893, 2126069-2126171, 2126492-2126586, 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
280PKD1160.0006195786864932112904129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143605, 2143614-2143739, 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
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283SLX4160.875567665758468555053632377, 3632381-3632403, 3632485-3632581, 3632587-3632623, 3633105, 3633108-3633142, 3633168-3633204, 3633258-3633286, 3633303-3633337, 3633346-3633387, 3633481-3633483, 3639244-3639259, 3639357-3639369, 3639449-3639457, 3639521-3639535, 3639571-3639581, 3639637-3639643, 3639771-3639777, 3639844-3639846, 3639939-3639944, 3639977, 3639996-3639999, 3640406-3640411, 3641261-3641272, 3642725-3642770, 3642802-3642826, 3645647-3645655, 3646225, 3647524-3647560, 3647692-3647696, 3647830, 3647839-3647877, 3647899-3647910, 3650987-3650995, 3652143-3652144, 3652176-3652177, 3652233, 3652237, 3656531-3656562, 3656644-3656655, 3656658
284CREBBP160.9843089098103411573293778404, 3778443-3778454, 3778683-3778689, 3778845-3778851, 3778934-3778942, 3779145-3779191, 3779462-3779482, 3779706-3779709, 3900504-3900510
285GLIS2160.071111111111111146315754382291-4382348, 4382360-4382453, 4383348-4383385, 4383401-4383454, 4383456-4383469, 4383479-4383490, 4383502, 4383512-4383520, 4384802-4384870, 4384907-4384978, 4385061-4385194, 4385276-4385394, 4386726-4386775, 4386787-4387525
286ALG1160.8530465949820820513955128805, 5128816, 5128828, 5128860-5128866, 5128869-5128871, 5128877, 5129065-5129099, 5129766-5129784, 5129797-5129808, 5130955-5131002, 5131010-5131038, 5131046-5131057, 5132620-5132639, 5133683, 5134868-5134882
287ABCC6160.88453014184397521451216244040-16244044, 16244550, 16255302-16255328, 16255356, 16256967-16256970, 16256977, 16256995-16256996, 16259492-16259539, 16259543, 16259557-16259613, 16259637-16259651, 16259691-16259698, 16259759-16259790, 16263507-16263558, 16263570, 16263581, 16263584-16263591, 16263595, 16263599, 16263614-16263620, 16263657-16263684, 16263703-16263710, 16267141-16267245, 16269768-16269811, 16269823, 16269836, 16271309-16271313, 16271339, 16271357, 16271372, 16271424-16271472, 16272744, 16317277, 16317290-16317291
288UMOD160.995839833593348192320359872-20359873, 20359923, 20360099-20360101, 20360175, 20360180
289SCNN1B160.9932397295891813192323392070-23392082
290COG7160.998702983138783231323400308, 23403717-23403718
291CLN3160.9779802581624929131728497673-28497680, 28497716-28497718, 28499912-28499929
292TUFM160.9663742690058546136828857336-28857348, 28857416-28857418, 28857426-28857427, 28857545, 28857548-28857574
293ATP2A1160.999334664005322300628912107, 28912163
294PHKG2160.9918099918099910122130760190, 30760193-30760194, 30760214-30760215, 30760232-30760236
295VKORC1160.977642276422761149231102657-31102663, 31105954, 31105969, 31105972-31105973
296FUS160.9816571790006329158131195689-31195717
297SLC5A2160.90193164933135198201931496176, 31497588-31497595, 31498653, 31498997-31499005, 31499372-31499384, 31499437-31499439, 31499450, 31499455-31499456, 31499463, 31499466-31499469, 31499476-31499482, 31499746-31499761, 31499952-31499961, 31500004-31500012, 31500021-31500032, 31500059-31500083, 31500087, 31500272-31500302, 31500349-31500353, 31500456-31500461, 31500473-31500478, 31500493-31500498, 31501728-31501748
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299SALL1160.9904402515723338397551175652-51175689
300RPGRIP1L160.997973657548138394853672248-53672255
301MMP2160.9924357034795815198355513425-55513427, 55513468-55513469, 55513527-55513536
302SLC12A3160.86873585515681406309356899154, 56899157-56899164, 56899218-56899234, 56899330-56899355, 56899415-56899429, 56900988-56900989, 56900998-56901005, 56901073-56901120, 56902215-56902228, 56902261-56902263, 56904629-56904635, 56906311-56906315, 56906369-56906374, 56911989-56911998, 56912026-56912034, 56913102-56913119, 56913454-56913477, 56913553, 56913556-56913560, 56914042-56914066, 56914150-56914165, 56919227, 56919231, 56919237-56919253, 56919264, 56920367-56920376, 56920868-56920884, 56920977-56920984, 56921842-56921900, 56921911-56921932, 56921937-56921938
303COQ9160.949843260188094895757481420-57481425, 57481428, 57481475, 57481490, 57485056, 57486725-57486749, 57486806, 57486813, 57486816-57486826
304GPR56160.9898255813953521206457685228, 57687900, 57689881-57689884, 57691330-57691344
305TK2160.99675324675325392466583900-66583902
306HSD11B2160.73973727422003317121867465152-67465416, 67469640, 67469678, 67469929-67469936, 67469972, 67469989-67469994, 67469998-67470009, 67470027, 67470152-67470161, 67470288, 67470535, 67470897-67470906
307LCAT160.76417233560091312132367973808-67973810, 67973815, 67973819-67973820, 67973847-67973849, 67973858-67973881, 67973903, 67973962-67973981, 67973993-67974028, 67974128, 67974149-67974176, 67974226-67974227, 67976354-67976395, 67976456-67976490, 67976574-67976602, 67976609-67976611, 67976614, 67976654-67976658, 67976663-67976669, 67976787, 67976975-67976993, 67977009-67977011, 67977039, 67977046, 67977061-67977064, 67977070-67977072, 67977904, 67977969-67978004
308CDH3160.9674698795180781249068679576-68679578, 68716207, 68716213, 68716277-68716284, 68716377, 68718584-68718586, 68718649, 68719130, 68721607-68721639, 68725743-68725744, 68725756-68725774, 68725794-68725799, 68725816, 68725826
309CDH1160.992072480181221264968771326, 68771337-68771355, 68771360
310COG8160.92659053833605135183969364784-69364821, 69364831-69364851, 69364880-69364890, 69373207-69373230, 69373236-69373237, 69373374-69373412
311AARS160.998280013759895290770291955, 70292021, 70292029, 70292056-70292057
312HP160.9967239967244122172093017, 72093029-72093030, 72093033
313GCSH160.894636015325675552281129818-81129837, 81129843-81129852, 81129859-81129883
314GAN160.92530657748049134179481348719-81348785, 81348793-81348813, 81348829-81348874
315MLYCD160.83603238866397243148283932756-83932766, 83932800-83932844, 83932847, 83932859-83932885, 83932910-83932945, 83932980-83933019, 83933030, 83933087, 83933090-83933095, 83933102, 83933110-83933143, 83933150-83933152, 83933207-83933208, 83933234-83933238, 83933259-83933277, 83940689-83940697, 83948766, 83948769
316LRRC50160.9683195592286569217884203470-84203476, 84209778-84209811, 84209816, 84209852-84209878
317FOXF1160.9394736842105369114086544188, 86544214-86544226, 86544506-86544513, 86544588-86544606, 86544848-86544849, 86544919-86544928, 86544963-86544977, 86544981
318FOXC2160.82934926958831257150686600962, 86601141-86601147, 86601314-86601353, 86601412-86601445, 86601544-86601568, 86601602-86601603, 86601647-86601674, 86601722-86601727, 86601783-86601796, 86601825-86601866, 86601893-86601922, 86601926-86601928, 86601970-86601973, 86601976-86601983, 86601990, 86602184-86602195
319JPH3160.57988429016466944224787636846, 87636862-87636901, 87636910-87636921, 87636949-87636967, 87637094-87637102, 87677900, 87678021, 87678029, 87678175-87678200, 87678311-87678317, 87678320, 87678339-87678353, 87678381-87678397, 87678476-87678478, 87678514, 87678552-87678591, 87678595, 87717748-87717755, 87717784-87717839, 87717862-87717872, 87723278-87723516, 87723522-87723560, 87723580-87723735, 87723744-87723788, 87723823-87723829, 87723838-87723839, 87723853-87723892, 87723911-87723933, 87723957-87723993, 87724006-87724061, 87724081-87724110
320CYBA160.5476190476190526658888709761-88709816, 88709828, 88709831-88709890, 88709942-88709965, 88709974-88709979, 88712529-88712560, 88712582-88712605, 88713191-88713208, 88713230-88713246, 88713509-88713514, 88713519, 88714486-88714489, 88717364-88717373, 88717386, 88717394, 88717397, 88717418-88717421
321APRT160.2909760589318638554388876106-88876112, 88876115-88876118, 88876168, 88876193-88876248, 88876478-88876556, 88876831-88876867, 88876924-88876939, 88876961-88876964, 88877964-88878064, 88878228-88878307
322GALNS160.69216061185468483156988880847-88880848, 88880894-88880904, 88880927-88880933, 88884428-88884488, 88884500-88884532, 88888999-88889069, 88889081, 88889091-88889118, 88891175-88891189, 88891199-88891263, 88893111-88893112, 88893174-88893184, 88893186-88893187, 88893191, 88893208-88893218, 88904049, 88904165-88904171, 88907419, 88907436, 88907452-88907453, 88907457, 88907495-88907502, 88908310-88908344, 88909115, 88909139, 88909175-88909176, 88909182-88909198, 88909236-88909237, 88923176-88923178, 88923186-88923193, 88923201-88923204, 88923218-88923285
323SPG7160.9648241206030284238889574826-89574858, 89574897, 89574985-89575004, 89598367, 89598370, 89614521, 89623468-89623492, 89623500-89623501
324FANCA160.89217032967033471436889805038, 89805058-89805060, 89805091, 89805095-89805113, 89805308-89805312, 89805329-89805330, 89805343-89805346, 89805558-89805560, 89805566, 89805684, 89805914, 89805925, 89806402-89806419, 89809215-89809218, 89809222-89809223, 89809230, 89809311-89809316, 89811434-89811437, 89831437, 89831441, 89831454, 89836323, 89836363, 89836369, 89836377, 89836393, 89836994, 89837018-89837036, 89838095-89838148, 89839709-89839736, 89839745-89839780, 89842159-89842182, 89842192-89842214, 89846348, 89849314-89849326, 89849435, 89851306-89851314, 89877337-89877363, 89877463-89877479, 89880928-89880946, 89882285-89882295, 89882310-89882332, 89882336, 89882945-89883023
325TUBB3160.3059866962306939135389989810-89989866, 89998979-89999040, 89999051, 89999067, 89999083-89999087, 89999876-89999899, 89999929-89999933, 90001137-90001151, 90001178-90001197, 90001228-90001268, 90001297-90001314, 90001326-90001351, 90001394-90001406, 90001416-90001533, 90001579-90001617, 90001639-90001650, 90001656-90001701, 90001709-90002022, 90002039-90002104, 90002127-90002132, 90002141, 90002144-90002160, 90002166-90002168, 90002172-90002177, 90002180, 90002191-90002212
326PRPF8170.9711757990867620270081554096-1554104, 1554229, 1554402-1554425, 1554489-1554490, 1554576, 1554582, 1556933-1556940, 1557086-1557132, 1557189, 1557205-1557223, 1557236, 1557289, 1558746, 1558810-1558818, 1559730, 1563759, 1564946-1564947, 1565260, 1565263-1565276, 1577174-1577178, 1586977, 1587779-1587800, 1587820-1587842, 1587859-1587865
327CTNS170.5477971737323454412033552149-3552161, 3558515-3558558, 3558630, 3558633, 3559790-3559880, 3559970-3559996, 3560005-3560089, 3561299-3561364, 3561378, 3561382-3561402, 3561428-3561455, 3561468-3561469, 3563152-3563155, 3563168-3563196, 3563225-3563234, 3563237-3563269, 3563541-3563565, 3563599, 3563610, 3563632-3563644, 3563930-3563977
328CHRNE170.9190283400809712014824802033, 4802102-4802117, 4802177-4802186, 4802586-4802613, 4802630-4802635, 4802670, 4802674, 4802802-4802804, 4804089-4804119, 4804163, 4804195, 4804201-4804202, 4804466-4804477, 4805344, 4806352-4806357
329AIPL1170.9991341991342111556330042
330PITPNM3170.9350427350427419029256358693-6358759, 6358771-6358790, 6358801, 6358831-6358841, 6358855-6358856, 6358864-6358871, 6358950-6358959, 6358963, 6373580-6373584, 6374500-6374533, 6376117, 6380450-6380452, 6382014-6382016, 6382019-6382020, 6459705-6459726
331ACADVL170.9227642276422815219687123310, 7123313-7123318, 7123466-7123487, 7123502, 7123507, 7123827-7123840, 7124093-7124097, 7124879, 7124882-7124887, 7125496-7125498, 7125565-7125582, 7126052, 7126167-7126173, 7126453-7126457, 7126975-7126976, 7127553-7127560, 7127667-7127669, 7127969-7127979, 7128286-7128294, 7128339-7128366
332CHRNB1170.970119521912354515067348464-7348467, 7348500-7348504, 7348631, 7348641-7348648, 7348702-7348728
333GUCY2D170.9510869565217416233127906384-7906391, 7906403-7906412, 7906480-7906482, 7906567, 7906602, 7906607-7906616, 7906619, 7906658-7906695, 7906705-7906740, 7906800, 7906842-7906847, 7906854-7906867, 7906880, 7906919-7906947, 7907201, 7907204-7907205
334ALOX12B170.989553656220322221067982779-7982795, 7983146-7983149, 7984231
335HES7170.97935103244838146788024903, 8025007-8025019
336MYH2170.9977686234122913582610426871-10426877, 10446422-10446427
337MYH3170.9860896445131481582310532922-10532926, 10541389, 10541392-10541393, 10542935, 10543119, 10544608, 10544629, 10554829-10554832, 10555737-10555756, 10555775-10555811, 10555871, 10558178-10558183, 10558380
338SCO1170.99889624724062190610600753
339ELAC2170.9915356711003621248112896175-12896195
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463NLRP12190.9714375392341591318654304536, 54304539-54304551, 54304618-54304632, 54310896-54310905, 54312871, 54313186, 54313345-54313347, 54313433-54313444, 54313590, 54313612, 54313657-54313680, 54313794-54313798, 54313854-54313855, 54314384-54314385
464PRKCG190.80611270296084406209454385753-54385754, 54385769, 54385807-54385824, 54385868, 54385876, 54385902, 54385909-54385917, 54392897-54392946, 54392958, 54392963-54393003, 54393141-54393173, 54393205-54393236, 54393247-54393271, 54396293-54396299, 54401718, 54401742, 54401784-54401786, 54401830-54401836, 54401841-54401874, 54403954, 54403965-54403966, 54403974-54403980, 54403993, 54409602-54409603, 54409606, 54409612-54409657, 54409677, 54409973-54409976, 54409999-54410039, 54410072-54410101, 54410109, 54410112
465PRPF31190.81466666666667278150054621692, 54627163-54627176, 54627878-54627882, 54627920-54627936, 54627947, 54631508-54631511, 54631515, 54631548-54631556, 54631700-54631721, 54632432-54632433, 54632443-54632446, 54632456-54632498, 54632514-54632545, 54632551-54632560, 54632647-54632695, 54632716-54632745, 54634740-54634769, 54634853-54634856
466NLRP7190.9922928709055924311455445074-55445077, 55445933-55445936, 55452887-55452895, 55453046-55453047, 55453052-55453056
467TNNT1190.5944233206590632078955644283-55644328, 55645255-55645295, 55645459-55645467, 55645487, 55645491-55645494, 55645506-55645516, 55645522-55645524, 55648493-55648532, 55648570-55648576, 55649331, 55649407-55649442, 55652264-55652321, 55652328, 55652554-55652559, 55652596-55652603, 55652661-55652670, 55653287-55653288, 55657813, 55658049-55658075, 55658381-55658384, 55658387-55658389, 55658522
468TNNI3190.6321839080459822460955665398, 55665410, 55665421-55665422, 55665426, 55665477, 55665481, 55665484, 55665497-55665574, 55666151-55666198, 55667576-55667582, 55667610-55667619, 55667630, 55667654, 55667681-55667700, 55667980-55668012, 55668426-55668440, 55668498-55668500
469TPO20.9172019985724523228021481010, 1481264-1481265, 1520655-1520751, 1544366-1544399, 1544409-1544416, 1544426-1544495, 1546193-1546194, 1546229-1546246
470KLF1120.9727095516569242153910183844-10183885
471MYCN20.87168458781362179139516082377-16082400, 16082443-16082450, 16082548-16082559, 16082584-16082622, 16082643-16082665, 16082689-16082693, 16082698, 16082718-16082725, 16082827-16082829, 16082833, 16082848-16082849, 16082864-16082910, 16082956-16082961
472APOB20.9975898334794331369221224818-21224825, 21266746, 21266760-21266770, 21266790-21266802
473POMC20.976368159203981980425384119-25384125, 25384457-25384468
474HADHA20.9838568935427637229226414415-26414441, 26416472-26416479, 26437313, 26437946
475HADHB20.9901754385964914142526508305-26508318
476OTOF20.552886219552892680599426683015-26683016, 26684654-26684655, 26684686, 26684700-26684702, 26684738-26684747, 26684963-26684992, 26685028-26685031, 26686375, 26686405-26686419, 26686832-26686845, 26686876-26686892, 26686923-26686927, 26687740, 26687766-26687776, 26687801-26687835, 26688540-26688562, 26688838-26688839, 26689687-26689693, 26689999-26690003, 26690277, 26691338, 26693465-26693478, 26693585, 26695387-26695414, 26695432, 26695435-26695436, 26695446-26695517, 26696000-26696091, 26696119-26696162, 26696274-26696291, 26696319-26696353, 26696388-26696435, 26696862-26696907, 26696918-26696945, 26696969-26696978, 26697381-26697542, 26698238-26698305, 26698328-26698361, 26698785-26698906, 26698996-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700368, 26700517-26700617, 26702132-26702237, 26702341-26702518, 26703071-26703179, 26703655-26703695, 26703705, 26703725-26703877, 26705281-26705365, 26705395-26705460, 26706333-26706352, 26706355, 26706378-26706429, 26706457-26706508, 26707342-26707348, 26707354-26707387, 26707411, 26707433-26707470, 26707492-26707501, 26712079-26712086, 26712110-26712148, 26712596, 26712599-26712600, 26739366-26739373, 26741888-26741890, 26781400, 26781420-26781422
477EIF2B420.9908088235294115163227592299-27592309, 27592789, 27592860-27592862
478C2orf7120.998965606413244386729294123-29294126
479ALK20.9847830557269274486329462603-29462620, 29462623, 29462686-29462696, 30143285-30143307, 30143411-30143413, 30143416, 30143485, 30143491, 30143497-30143502, 30143510-30143518
480SRD5A220.99475065616798476231805947-31805950
481SPAST20.9746083198271247185132288982-32288983, 32288999, 32289135-32289148, 32289152-32289159, 32289194, 32289197, 32289240, 32289299, 32340884-32340897, 32341201-32341204
482CYP1B120.90257352941176159163238301626-38301632, 38301837-38301844, 38301926-38301960, 38301971-38301977, 38301989-38301990, 38301994, 38302002-38302016, 38302070-38302077, 38302153-38302155, 38302168-38302212, 38302240, 38302243, 38302250-38302253, 38302256-38302262, 38302290, 38302294-38302298, 38302302-38302305, 38302311-38302315
483SOS120.9952523738130919400239249802-39249808, 39294824-39294835
484ABCG820.91740850642928167202244099137-44099184, 44099190-44099239, 44099368-44099370, 44099400-44099445, 44100982-44100987, 44101609-44101614, 44102415-44102422
485EPCAM20.961904761904763694547596645-47596658, 47596662-47596682, 47606177
486MSH220.9696969696969785280547630342-47630352, 47630356-47630362, 47630380, 47630392-47630398, 47630403-47630411, 47630418, 47630440-47630483, 47630541, 47639607-47639610
487MSH620.96130296350723158408348010404-48010432, 48010440-48010483, 48010495-48010513, 48010526-48010575, 48010617-48010632
488EFEMP120.9892037786774616148256144944-56144959
489ATP6V1B120.998702983138782154271163086-71163087
490DYSF20.98317610062893107636071780310, 71825810-71825811, 71825858, 71825866, 71838646, 71838649, 71838691, 71839835-71839836, 71839858-71839903, 71840532-71840533, 71847683-71847724, 71847733-71847739
491SPR20.8575063613231611278673114644-73114661, 73114672-73114674, 73114705-73114730, 73114775-73114817, 73114837-73114855, 73118605, 73118644-73118645
492ALMS120.99912028150992111250473613032-73613034, 73827996-73828002, 73828342
493SLC4A520.9941417691857120341474474168-74474170, 74491284-74491285, 74491288-74491292, 74492299-74492302, 74492305-74492310
494MOGS20.9709626093874373251474688423-74688429, 74689007-74689013, 74689274, 74691802-74691808, 74692122-74692129, 74692151-74692169, 74692246-74692253, 74692312-74692315, 74692344-74692355
495GGCX20.998243302591134227785788524-85788527
496REEP120.968646864686471960686564615-86564633
497EIF2AK320.9922411220531226335188926730-88926751, 88926778-88926780, 88926785
498TMEM12720.7168758716875920371796919644-96919649, 96919734, 96920704, 96930876-96930933, 96930936, 96930958-96930966, 96930977-96930999, 96931016-96931119
499SNRNP20020.998908126657317641196944353-96944356, 96951074-96951076
500ZAP7020.997849462365594186098340752-98340755
501RANBP220.975090439276492419675109345588-109345589, 109347929-109347930, 109352560-109352580, 109357088-109357116, 109367723-109367757, 109367984-109367989, 109368049, 109368074-109368111, 109369945, 109370388-109370401, 109371632-109371636, 109374929-109374975, 109382787-109382793, 109383243-109383274, 109384469
502MERTK20.995153000112656319-112656324, 112656328, 112656331, 112656340, 112656368-112656373
503PAX820.96674057649667451353113992973-113993009, 113994178-113994180, 113994192-113994196
504GLI220.6885108170552414834761121555019-121555028, 121708819-121708839, 121708862-121708867, 121708911-121709021, 121712899-121712924, 121712934-121712970, 121713006, 121726293, 121726304-121726306, 121726334-121726340, 121726447, 121726456, 121726476-121726491, 121728019-121728029, 121728076-121728097, 121728101, 121728109, 121728124-121728182, 121729526, 121729531, 121729539-121729542, 121729580-121729639, 121732584, 121732661-121732670, 121732677, 121744047, 121745784-121745818, 121745829-121745863, 121745882-121745917, 121745976-121746050, 121746070-121746101, 121746105, 121746123, 121746128, 121746139-121746159, 121746172-121746207, 121746214, 121746217-121746249, 121746256, 121746261-121746369, 121746376-121746411, 121746420, 121746432-121746463, 121746478, 121746481, 121746499-121746592, 121746604, 121746618-121746621, 121746624-121746625, 121746635-121746640, 121746651-121746732, 121746771-121746772, 121746793-121746828, 121746857, 121746923, 121746992-121747020, 121747069-121747105, 121747118-121747121, 121747151-121747207, 121747249, 121747305-121747359, 121747375, 121747378-121747380, 121747386-121747424, 121747469-121747489, 121747499, 121747524-121747556, 121747573, 121747586-121747587, 121747639-121747640, 121747662-121747665, 121747669, 121747679-121747682, 121747693-121747736, 121747747, 121747912, 121748029-121748038, 121748223
505BIN120.98989898989899181782127806123-127806128, 127808448, 127808457, 127808740-127808744, 127815081, 127815088-127815091
506PROC20.97258297258297381386128180493-128180501, 128180675-128180677, 128180687-128180712
507CFC120.77083333333333154672131279630, 131280363-131280407, 131280424-131280472, 131280743-131280744, 131280748, 131280759, 131280775, 131280790-131280825, 131285306-131285321, 131285377-131285378
508LCT20.967150760719231905784136558211, 136558232, 136558241-136558270, 136558295, 136558354-136558379, 136561628, 136562496-136562515, 136564710-136564722, 136564786-136564816, 136564820-136564822, 136564844-136564849, 136566138, 136566182, 136566222, 136566225, 136566306-136566312, 136566551, 136566584-136566589, 136566595-136566596, 136566916, 136567039-136567042, 136567047-136567069, 136567391, 136570206-136570207, 136570232, 136570398, 136594512-136594515
509MCM620.996350364963592466136615487-136615493, 136616943, 136616948
510NEB20.997096225092625819974152348788, 152402512, 152432752-152432775, 152432795-152432803, 152432824-152432845, 152584314
511SCN2A20.9996676636756426018166171986, 166237681
512GALNT320.99263932702419141902166627167-166627180
513SCN9A20.99780923491743135934167055940, 167083077-167083087, 167083159
514SLC25A1220.99116347569956182037172691280-172691290, 172693705, 172693740-172693741, 172750714-172750716, 172750722
515ITGA620.9996947496947513276173292657
516CHN120.9992753623188411380175869631
517HOXD1320.97093023255814301032176957619-176957632, 176957664-176957668, 176957748-176957754, 176957962-176957964, 176957969
518TTN20.9996708163753933100248179444857, 179499177, 179514905, 179644023, 179644035, 179644138-179644145, 179648911-179648922, 179650626, 179650836, 179659151, 179659687, 179664284-179664287
519CERKL20.99124452782989141599182468612-182468622, 182468633, 182468773-182468774
520COL3A120.99750056805272114401189854167, 189856954, 189860453-189860458, 189860851-189860852, 189872616
521SLC40A120.99067599067599161716190428421-190428425, 190428428-190428431, 190445175-190445181
522STAT120.99334221038615152253191843661-191843664, 191859841-191859851
523HSPD120.97793263646922381722198351835-198351865, 198351876-198351882
524ALS220.9985926819461274974202593321-202593327
525BMPR220.9993583573949323117203379685-203379686
526NDUFS120.998168498168542184207018363-207018366
527CPS120.9997779258272314503211459267
528CYP27A120.996867167919851596219646925-219646927, 219646950-219646951
529WNT10A20.95135566188198611254219745718-219745728, 219745801-219745827, 219754750-219754753, 219757550, 219757608, 219757612, 219757766, 219757770, 219757776-219757788, 219757877
530DES20.96886058032555441413220283217, 220283221-220283229, 220283259-220283266, 220283697-220283722
531OBSL120.89228606571786135691220416284-220416292, 220416296-220416302, 220416305-220416308, 220416335, 220416463-220416476, 220416479-220416486, 220416838-220416850, 220416899-220416908, 220417321-220417357, 220417388-220417396, 220417399-220417406, 220417593-220417612, 220417621-220417688, 220417741-220417746, 220418311-220418312, 220422596, 220423948-220423953, 220424016, 220424020, 220427395, 220435053, 220435222-220435245, 220435272-220435302, 220435357-220435364, 220435372-220435408, 220435496-220435501, 220435532-220435558, 220435571-220435605, 220435614-220435622, 220435642-220435691, 220435704-220435787, 220435872-220435931, 220435940-220435954
532COL4A320.99740674246958135013228029480-228029492
533CHRND20.95817245817246651554233390926-233390961, 233396272, 233396281-233396299, 233398725, 233398796, 233398805-233398811
534COL6A320.99674847912733319534238271993-238272010, 238274358, 238274361-238274363, 238274368, 238287523-238287526, 238303490-238303493
535AGXT20.651399491094154111179241808290-241808301, 241808308, 241808314, 241808330-241808447, 241808587-241808600, 241808623-241808667, 241808679-241808717, 241808727-241808748, 241808762, 241808765-241808777, 241810095-241810117, 241810766-241810799, 241810839-241810841, 241810846-241810849, 241810853-241810855, 241812445-241812466, 241813427, 241814620-241814621, 241816969, 241817001-241817027, 241817453-241817476, 241817505
536D2HGDH20.643678160919545581566242674640-242674685, 242674726, 242674729-242674756, 242674827-242674868, 242681859-242681865, 242689566-242689593, 242689601-242689612, 242689617-242689618, 242689634-242689684, 242689694-242689709, 242690714, 242690726-242690734, 242690750-242690783, 242695292-242695295, 242695299-242695301, 242695355-242695391, 242695400-242695429, 242707137-242707152, 242707158-242707159, 242707179-242707259, 242707266-242707353, 242707365-242707384
537C20orf54200.9978723404255331410744275, 744534-744535
538AVP200.626262626262631854953063276-3063304, 3063338-3063435, 3063625-3063641, 3063675-3063698, 3063755-3063770, 3063775
539PANK2200.8663164039696422917133869764-3869799, 3869854-3869876, 3869994-3870010, 3870033-3870064, 3870100, 3870107-3870141, 3870188, 3870193-3870195, 3870205-3870274, 3870291-3870294, 3870348, 3870352, 3870359, 3870364, 3891449-3891451
540PRNP200.8989501312336777624679867, 4679894, 4679898-4679905, 4679915, 4679928-4679951, 4679998, 4680001, 4680009, 4680046, 4680070, 4680084, 4680094, 4680169, 4680172, 4680175-4680176, 4680203-4680223, 4680294-4680300, 4680548, 4680551, 4680604
541JAG1200.9926168990976227365710653628-10653654
542C20orf7200.9884393063583812103813765744-13765755
543THBD200.79861111111111348172823028444-23028448, 23028451, 23028667-23028671, 23028696, 23028705, 23028709-23028711, 23028741, 23029119-23029128, 23029314-23029336, 23029374-23029391, 23029429, 23029461-23029493, 23029538-23029557, 23029583-23029602, 23029604-23029613, 23029643, 23029649-23029651, 23029685-23029718, 23029729-23029752, 23029767, 23029770-23029773, 23029778, 23029801-23029831, 23029856-23029862, 23029879-23029919, 23030041-23030076, 23030100-23030112
544SNTA1200.8030303030303299151832000192-32000194, 32000226, 32000399-32000406, 32000574, 32005559-32005565, 32031117-32031137, 32031158-32031255, 32031259-32031290, 32031299-32031426
545GSS200.996491228070185142533519870-33519874
546SAMHD1200.99734183944715188135579859-35579863
547HNF4A200.9389473684210587142543052658-43052663, 43052751-43052809, 43052873-43052894
548ADA200.87820512820513133109243248976-43248978, 43248981, 43251248, 43251258-43251260, 43252859-43252868, 43252874, 43252920-43252970, 43254214, 43254291-43254308, 43255151-43255155, 43255192-43255194, 43257752-43257774, 43280227, 43280237-43280248
549CTSA200.9799599198396830149744520237-44520252, 44520255-44520256, 44523326, 44523633-44523643
550SLC2A10200.9526445264452677162645353889-45353893, 45353922-45353930, 45353933-45353936, 45353941, 45354007-45354009, 45354143, 45354218, 45354234-45354237, 45354675-45354677, 45354888-45354904, 45358069-45358088, 45358106-45358114
551GNAS200.979674796747971573857415187-57415191, 57415199-57415202, 57415245, 57415319, 57415456, 57415527-57415529
552GNAS200.9900449582530531311457429478-57429484, 57429681, 57429749-57429764, 57429882-57429888
553COL9A3200.488077858880781052205561448417-61448494, 61448919-61448987, 61449870-61449905, 61450574-61450593, 61450600-61450631, 61450641-61450645, 61451281-61451306, 61451322-61451334, 61452538-61452547, 61452550-61452568, 61452859-61452874, 61452881-61452882, 61453109-61453127, 61453159-61453162, 61453464, 61453468-61453516, 61453943-61453984, 61455797-61455842, 61455852-61455853, 61456320-61456373, 61457169-61457200, 61457204-61457207, 61457556-61457562, 61457586-61457609, 61458119-61458129, 61458145, 61458155-61458159, 61458163-61458164, 61458593-61458605, 61458615-61458634, 61459275-61459280, 61459316-61459328, 61460116-61460118, 61460127-61460162, 61460280, 61460286, 61460290-61460321, 61460980-61461010, 61461019, 61461118-61461133, 61461162-61461171, 61461712-61461747, 61461869-61461931, 61463521-61463531, 61463535-61463541, 61464375-61464400, 61467287-61467289, 61467292, 61467539-61467551, 61467609, 61467617-61467625, 61467633, 61467637, 61467666-61467670, 61468435, 61468482-61468519, 61468547-61468555, 61468563, 61468571, 61468579-61468588, 61468605, 61471894, 61471906
554CHRNA4200.0567940552016991777188461978090-61978173, 61978193, 61978204-61978215, 61981005-61981776, 61981785-61981829, 61981838-61982099, 61982107-61982115, 61982121-61982125, 61982138-61982251, 61982261-61982266, 61982273-61982280, 61982295, 61982300-61982331, 61982337-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
555KCNQ2200.161130202367322197261962037997-62038332, 62038345-62038379, 62038390-62038395, 62038405-62038471, 62038494, 62038498-62038552, 62038558-62038604, 62038608, 62038617-62038624, 62038630-62038637, 62038648, 62038651-62038662, 62038668-62038680, 62038698-62038714, 62039767, 62039770-62039826, 62039855-62039889, 62044803-62044834, 62044845-62044887, 62045441-62045468, 62045496-62045533, 62046256-62046456, 62046474-62046479, 62050975-62050982, 62051016, 62051025, 62055533-62055559, 62059720-62059788, 62062717, 62065162-62065168, 62065175-62065212, 62065245-62065256, 62069978-62070054, 62070951-62071061, 62073759-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078105, 62078125-62078190, 62103521-62103816
556SOX18200.127272727272731008115562679519-62679547, 62679563-62679628, 62679646-62679671, 62679681-62679785, 62679794-62679815, 62679826-62679867, 62679879-62679895, 62679905-62679910, 62679919-62679983, 62679999-62680035, 62680047-62680281, 62680512-62680869
557IFNGR2210.9280078895463573101434775850-34775922
558RCAN1210.972332015810282175935987169-35987171, 35987201-35987207, 35987252-35987260, 35987275-35987276
559CLDN14210.920833333333335772037833274-37833278, 37833307, 37833682, 37833873-37833890, 37833962-37833993
560TMPRSS3210.9597069597069655136543795846-43795890, 43796650-43796652, 43796676-43796679, 43796684, 43805518-43805519
561CBS210.85688405797101237165644473990-44474006, 44474064-44474076, 44474090-44474092, 44476916-44476957, 44476978, 44476987-44476997, 44478944-44478954, 44478965, 44478969-44478994, 44479033-44479058, 44480561-44480563, 44480611-44480653, 44484035-44484036, 44485335, 44485497-44485500, 44485800-44485804, 44486415-44486421, 44488650-44488657, 44488689-44488701
562CSTB210.740740740740747729745194203-45194211, 45194557-45194558, 45196085-45196150
563AIRE210.260683760683761211163845705890-45706021, 45706440-45706453, 45706464-45706466, 45706470-45706471, 45706477-45706478, 45706489-45706515, 45706518, 45706523, 45706536-45706547, 45706567-45706587, 45706600-45706614, 45706861-45706898, 45706925-45706933, 45706957-45706970, 45706978-45706987, 45706990-45707000, 45707016, 45707437-45707446, 45707453, 45708228-45708297, 45708303-45708341, 45709564-45709605, 45709620-45709667, 45709683-45709685, 45709871-45709951, 45710979, 45710999-45711032, 45711067-45711071, 45711081-45711087, 45712195, 45712199-45712201, 45712204-45712219, 45712229, 45712258-45712284, 45712876-45713058, 45713672-45713718, 45713733-45713769, 45713780-45713793, 45714284-45714386, 45716266-45716311, 45716322-45716328, 45717539-45717610
564ITGB2210.541991341991341058231046306316-46306320, 46306651-46306666, 46306697-46306715, 46306723-46306810, 46308608-46308651, 46308659-46308810, 46309191-46309275, 46309290, 46309304-46309306, 46309312, 46309317-46309318, 46309327-46309380, 46309386-46309410, 46309893-46309999, 46310025-46310073, 46310086, 46310111-46310137, 46311724-46311793, 46311813-46311844, 46311871-46311874, 46311883-46311884, 46311894-46311911, 46313322-46313348, 46313364-46313396, 46313415, 46314907, 46318989, 46318996-46319005, 46320266-46320275, 46320329, 46320338-46320390, 46321468, 46321474, 46321480-46321484, 46321491, 46321516-46321539, 46326830, 46326839-46326841, 46326850-46326852, 46326856-46326863, 46326928, 46326976-46327008, 46330221-46330223, 46330233, 46330265, 46330268, 46330669-46330697
565COL18A1210.241975308641983991526546875445-46875489, 46875501-46875519, 46875564, 46875567-46875582, 46875618-46875624, 46875649-46875661, 46875669-46875671, 46875685-46875706, 46875733-46875755, 46875775-46875806, 46875820, 46875833-46875877, 46875883, 46875909-46875917, 46875923, 46875934-46875935, 46875939-46875956, 46875969-46875978, 46875997-46876000, 46876015-46876057, 46876083-46876117, 46876125-46876145, 46876160-46876269, 46876282-46876295, 46876303-46876361, 46876368-46876399, 46876407-46876470, 46876496-46876540, 46876547-46876721, 46876751-46876795, 46888156-46888169, 46888177-46888183, 46888193-46888217, 46888226-46888262, 46888278-46888303, 46888325-46888358, 46888369-46888418, 46888444-46888484, 46888513-46888648, 46888660-46888663, 46888667-46888669, 46888697-46888700, 46893818-46893838, 46893890-46893891, 46895393-46895425, 46895443-46895449, 46896272-46896275, 46896310-46896382, 46896390-46896393, 46897376-46897391, 46897664-46897674, 46897693, 46897696, 46897708-46897713, 46897738-46897741, 46897752-46897825, 46897840-46897847, 46897858-46897859, 46898246-46898253, 46898257, 46899831-46899868, 46899984-46900000, 46900007-46900049, 46900060-46900066, 46900384, 46900398-46900427, 46900614-46900643, 46900652-46900717, 46906775-46906814, 46906826, 46906832-46906833, 46906837-46906855, 46906864-46906900, 46907361-46907370, 46907383-46907423, 46908332-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913417, 46913438-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915317, 46915329-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925848, 46925859-46925880, 46927475-46927507, 46929274-46929293, 46929299-46929323, 46929337-46929393, 46929405-46929515, 46929978-46930175, 46931025-46931096, 46931105-46931140, 46932102-46932241, 46932247-46932312
566COL6A1210.539358600583091422308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406459, 47406462, 47406483-47406507, 47406529-47406597, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409522-47409566, 47409666-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410712, 47410718-47410730, 47410739-47410740, 47410900-47410934, 47410940-47410954, 47411924-47411928, 47412080-47412108, 47412130-47412131, 47412298-47412312, 47412670-47412673, 47412683-47412686, 47412713, 47412716-47412718, 47414081-47414089, 47414128-47414143, 47417335-47417367, 47417384-47417397, 47417614-47417621, 47417644, 47417648-47417670, 47418035-47418065, 47418312-47418315, 47418830-47418845, 47419067-47419097, 47419119-47419132, 47419571-47419603, 47420673-47420680, 47421171-47421176, 47422209, 47422298-47422301, 47422509, 47423323-47423325, 47423455-47423479, 47423497-47423511, 47423608, 47423636, 47423819-47423829, 47423835, 47423890
567COL6A2210.29379084967322161306047531391-47531404, 47531413-47531418, 47531434-47531505, 47531893, 47531907, 47531920-47531925, 47531994-47532000, 47532016-47532083, 47532123-47532131, 47532203-47532216, 47532265-47532284, 47532288, 47532303-47532332, 47532356-47532362, 47532393, 47532396, 47532412-47532438, 47532440, 47532450-47532453, 47532472-47532491, 47533954-47533978, 47533987, 47535923-47535967, 47536292, 47536298-47536317, 47536565-47536591, 47536684-47536687, 47536701-47536728, 47537314-47537367, 47537788-47537829, 47537842-47537850, 47538528-47538590, 47538944-47539033, 47539702-47539710, 47539724-47539725, 47539733-47539764, 47540429-47540491, 47540975, 47540992-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542445, 47542789, 47542799, 47542813-47542851, 47544585-47544613, 47544799-47544802, 47544828-47544834, 47545180-47545196, 47545379-47545408, 47545425-47545449, 47545488-47545511, 47545699-47545798, 47545815-47545852, 47545871-47546089, 47546102-47546151, 47546422-47546428, 47551868-47552132, 47552142, 47552146, 47552153-47552183, 47552192-47552404, 47552420, 47552431-47552466
568COL6A2210.1491228070175429134247552183, 47552192-47552404, 47552420, 47552431-47552501, 47552504, 47552521-47552524
569FTCD210.0252152521525221585162647556901-47556987, 47557153-47557248, 47558422-47558457, 47558466-47558549, 47558558-47558560, 47558794-47558811, 47558819-47558822, 47558832-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570350, 47570360-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
570PCNT210.9639396663673611001147744164-47744189, 47766100, 47766109-47766122, 47766679, 47766787-47766796, 47766817-47766818, 47766827-47766862, 47773177, 47773231, 47775436-47775440, 47775489, 47777063, 47783690, 47783705-47783708, 47786589-47786598, 47786609-47786611, 47786616-47786617, 47786639-47786676, 47786686, 47786690-47786711, 47786771, 47786853, 47786868, 47786990, 47786998-47787011, 47787035-47787041, 47801729-47801735, 47808665, 47808679-47808687, 47817190-47817196, 47817308, 47817325-47817334, 47817928-47817942, 47817983, 47818004-47818007, 47818149-47818151, 47818163-47818169, 47819515-47819545, 47819571, 47821588, 47822302, 47831299-47831302, 47831447-47831456, 47836681-47836682, 47841925-47841933, 47848345, 47848350, 47848358-47848380, 47848400, 47848459, 47850120-47850124
571PRODH220.7171381031614510180318900729-18900778, 18900792-18900820, 18900976, 18900986, 18900989, 18900995-18900998, 18901004, 18904403-18904429, 18904500, 18905879-18905902, 18905934, 18905938, 18905954, 18905962-18905964, 18905973, 18905977-18905978, 18907032-18907045, 18907226, 18907252, 18907296-18907311, 18908892-18908894, 18908908-18908936, 18909879, 18910330-18910349, 18910417-18910446, 18910635-18910666, 18912652, 18913224-18913231, 18913235, 18918582, 18918711, 18923528-18923585, 18923595, 18923599, 18923612-18923635, 18923640, 18923643, 18923655-18923666, 18923671-18923738, 18923745, 18923765-18923800
572GP1BB22062162119711093-19711102, 19711377-19711987
573TBX1220.44287634408602829148819747178-19747195, 19748428-19748708, 19748763-19748764, 19748767-19748769, 19753294, 19753302-19753310, 19753335-19753348, 19753425-19753486, 19753496-19753525, 19753912-19754126, 19754174-19754223, 19754229-19754318, 19754332-19754385
574SMARCB1220.9663212435233239115824129432-24129449, 24145523-24145525, 24145608-24145609, 24175817-24175831, 24175837
575CHEK2220.9551391254968879176129083895-29083917, 29083948-29083965, 29085157-29085179, 29090086-29090092, 29091837-29091844
576NF2220.9681208053691357178829999988, 30000022-30000077
577TCN2220.9563862928348956128431003319-31003323, 31011594-31011613, 31022447-31022456, 31022483-31022503
578TIMP3220.913522012578625563633197996-33198020, 33198030, 33198033, 33198040, 33198043, 33198046-33198063, 33198085, 33198091-33198097
579MYH9220.9877613462519172588336688112-36688117, 36689817-36689820, 36689823, 36690206, 36694991-36694995, 36696174-36696177, 36696212-36696214, 36696218, 36697595-36697607, 36697637, 36698709-36698722, 36702051-36702058, 36702072, 36710226-36710228, 36712671-36712677
580TRIOBP220.857565511411671011709838109217-38109246, 38109286, 38109298-38109304, 38109317, 38109342-38109345, 38109399-38109401, 38111803, 38111817, 38111840-38111898, 38119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119879-38119905, 38120029-38120068, 38120150-38120199, 38120297-38120346, 38120393-38120432, 38120444-38120477, 38120669, 38120676, 38120767, 38120831-38120869, 38120945-38120968, 38121697, 38121750, 38121924, 38121927, 38121930, 38121987-38121988, 38121991-38122013, 38122032, 38122042, 38122048-38122051, 38122059, 38122093-38122125, 38122145, 38122151, 38122170, 38122207, 38122242, 38122245, 38122250, 38122257, 38122263-38122265, 38122307-38122312, 38122434, 38122448, 38122466-38122472, 38122483, 38122507-38122508, 38129313-38129321, 38129332-38129333, 38129368-38129419, 38130424-38130434, 38130465-38130466, 38130472, 38130489-38130529, 38130567-38130570, 38130573, 38130581-38130588, 38130600-38130634, 38130646-38130692, 38130756-38130762, 38130806-38130808, 38130834-38130859, 38130874-38130893, 38130910-38130968, 38130998-38131040, 38131069-38131082, 38131109, 38131256-38131262, 38131287-38131307, 38131330-38131331, 38131366-38131368, 38131382, 38131393-38131408, 38131412, 38136941-38136955, 38150980-38150981, 38153877-38153880, 38153933-38153937, 38155183, 38155186, 38161725, 38165148-38165158, 38165165-38165170, 38165185
581SOX10220.9743040685224836140138379537-38379572
582PLA2G6220.0184049079754648048938508274-38508312, 38508511-38508584, 38509494-38509723, 38509733-38509869
583PLA2G6220.5877736472532998242138508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511688, 38512082-38512111, 38512118-38512218, 38516766-38516779, 38516841-38516916, 38519102-38519162, 38519168-38519235, 38519246-38519254, 38522388-38522423, 38522432-38522439, 38524280, 38524356-38524358, 38525486, 38525564, 38528922-38528951, 38528968-38528974, 38529006-38529014, 38531069
584ADSL220.9621993127147855145540745927-40745928, 40745931-40745935, 40746024, 40746027, 40750260-40750297, 40754999-40755002, 40755005-40755007, 40761054
585EP300220.999447895100074724541526007, 41533756-41533757, 41545042
586TNFRSF13C220.1945945945945944755542321395-42321396, 42321404-42321443, 42321477-42321512, 42321525, 42321528, 42322105-42322335, 42322642-42322777
587NAGA220.9279935275080989123642456285, 42456343-42456350, 42456411-42456412, 42456990-42457023, 42457052-42457071, 42458880-42458887, 42462724, 42463924-42463928, 42464578, 42466293-42466301
588CYB5R3220.974613686534222390643027397, 43027415, 43045301-43045321
589ATXN10220.979691876750729142846067952-46067966, 46067999-46068004, 46068019-46068026
590TRMU220.9518167456556161126646731710-46731739, 46751390-46751393, 46751398, 46751424, 46751946-46751960, 46752745-46752751, 46752755, 46752853, 46752868
591ALG12220.91956373551466118146750297612, 50301502-50301517, 50301575, 50303659, 50303701, 50303730-50303736, 50304154-50304173, 50304176, 50304206-50304214, 50304239-50304255, 50307133, 50307252-50307274, 50307296, 50307361-50307365, 50307369-50307382
592MLC1220.67283950617284371113450500012-50500028, 50500035, 50500049-50500083, 50502463-50502627, 50506895, 50506898-50506907, 50506939-50506955, 50506983-50506984, 50508956-50508957, 50508965-50509003, 50512645-50512653, 50512685-50512709, 50512748-50512750, 50512755-50512761, 50515329-50515341, 50515890, 50515908, 50515913-50515918, 50518796, 50523267-50523282
593SCO2220.945068664169794480150962121, 50962344-50962345, 50962521-50962543, 50962772, 50962782, 50962825-50962840
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744CCM270.57602996254682566133545039933-45039962, 45109492, 45109505, 45109552, 45112325-45112356, 45113059-45113170, 45113869-45114007, 45115376-45115586, 45115598-45115610, 45115631-45115656
745DDC70.9986139986142144350531051-50531052
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747EGFR70.9862372694742650363355086971-55086979, 55087006-55087045, 55220295
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750KCTD770.889655172413799687066094069-66094102, 66094122, 66094135-66094195
751SBDS70.976095617529881875366456147-66456164
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754NCF170.90707587382779109117374193668, 74193674-74193675, 74202384-74202432, 74202903-74202914, 74202994-74203010, 74203015, 74203040-74203048, 74203383-74203400
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756HSPB170.6925566343042119061875932061-75932099, 75932112-75932151, 75932164-75932192, 75932256-75932292, 75932299-75932321, 75932347-75932358, 75932377, 75932379, 75932382-75932385, 75932390, 75933134, 75933408, 75933414
757HGF70.9844535893918634218781399247-81399280
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830DBH90.845738942826322861854136501554-136501565, 136501568-136501570, 136501747, 136501789-136501801, 136505024-136505030, 136508663, 136508698, 136516764-136516801, 136516807-136516834, 136516858-136516888, 136517368, 136518062, 136518072, 136521680, 136521696-136521735, 136521743-136521772, 136522193-136522195, 136522199, 136522206-136522209, 136522223-136522265, 136522280-136522282, 136522316-136522324, 136522350-136522351, 136523522-136523533
831SARDH90.70946681175198012757136531859, 136531896-136531898, 136531928-136531979, 136535706-136535771, 136535792-136535874, 136536657-136536732, 136536773-136536784, 136536790-136536794, 136536804, 136536818-136536819, 136550315-136550329, 136550347-136550353, 136555513-136555554, 136555625, 136555628-136555629, 136555642, 136555645-136555648, 136559380-136559391, 136559411-136559463, 136559474-136559489, 136561456-136561462, 136568046, 136568118-136568143, 136570087, 136573464-136573466, 136573474-136573482, 136573489, 136573494-136573499, 136573532-136573548, 136577741-136577774, 136577786-136577809, 136577822-136577831, 136578160-136578175, 136578199-136578245, 136582480-136582484, 136582502, 136584085, 136584124-136584136, 136584157-136584164, 136595280-136595281, 136595294-136595295, 136595302-136595304, 136596436-136596439, 136597668-136597670, 136597680-136597683, 136597700, 136599005-136599006, 136599014, 136599046-136599073, 136599104-136599108, 136599181-136599206, 136599253-136599288
832COL5A190.5444988218234525135517137534034-137534142, 137582758-137582813, 137582821-137582925, 137591755-137591908, 137591914-137591968, 137593017-137593179, 137619164-137619173, 137619195, 137620555-137620561, 137620616-137620636, 137623453-137623469, 137623475-137623481, 137623490-137623509, 137630320-137630326, 137630592-137630597, 137630610-137630642, 137642388-137642462, 137642636-137642651, 137642683-137642728, 137644435-137644485, 137645696-137645749, 137646121-137646122, 137646137-137646139, 137646154-137646171, 137648611-137648664, 137650089-137650098, 137650111-137650142, 137653771-137653824, 137655539-137655583, 137657527-137657548, 137657562, 137657565, 137657572, 137657577-137657580, 137658300-137658344, 137658846-137658899, 137659156-137659200, 137660268-137660299, 137664637-137664641, 137664660-137664680, 137666705-137666714, 137666734-137666758, 137671948-137671966, 137671985-137671992, 137674513-137674559, 137674565-137674566, 137676835-137676842, 137676882-137676884, 137676908-137676942, 137677841-137677885, 137681049-137681052, 137687108-137687146, 137688222, 137688247-137688253, 137688694-137688700, 137690259-137690264, 137690287-137690307, 137693800-137693853, 137694734-137694744, 137694748, 137694765, 137694770-137694803, 137694828, 137694831-137694841, 137696821-137696852, 137696868-137696884, 137696897, 137696904-137696910, 137697030-137697038, 137697050-137697060, 137698038-137698072, 137698089-137698095, 137698100, 137698103, 137698107-137698108, 137698111, 137701029, 137701057, 137701105, 137703338-137703346, 137703361-137703362, 137703384-137703387, 137703427-137703445, 137704297-137704340, 137705829-137705842, 137705859, 137705864-137705873, 137705879-137705882, 137706664-137706668, 137706680-137706681, 137706712, 137706739-137706750, 137707443-137707472, 137707783, 137707793, 137707798-137707801, 137707826-137707834, 137708901, 137708915, 137708919, 137709627-137709658, 137709664, 137710502-137710517, 137710528-137710529, 137710539, 137710544-137710561, 137710591-137710609, 137710694-137710747, 137710855-137710857, 137710881-137710884, 137711997, 137712004, 137712044, 137712062-137712069, 137713943-137713978, 137716513, 137716516, 137716530, 137716692-137716693, 137726817-137726823, 137726848-137726871, 137726878, 137726883-137726886, 137726896-137726949, 137726965-137726971, 137726989-137727030, 137727035-137727037, 137727047-137727050, 137734034
833LHX390.858560794044671711209139089320-139089321, 139089463-139089465, 139090651-139090652, 139090768-139090809, 139090824-139090828, 139090884-139090905, 139091593-139091599, 139094792-139094871, 139094878-139094885
834INPP5E90.4346253229974210941935139325454-139325465, 139325552-139325558, 139326276-139326437, 139326931-139326948, 139326963-139326967, 139326982-139327010, 139327023-139327029, 139327034-139327036, 139327439, 139327482-139327527, 139327607-139327608, 139327654-139327720, 139328489-139328518, 139328529-139328531, 139328562, 139328565-139328575, 139329192-139329224, 139329285, 139329288, 139329294, 139333060-139333094, 139333121-139333149, 139333151, 139333154-139333174, 139333203-139333265, 139333303-139333375, 139333398-139333439, 139333442-139333565, 139333571-139333644, 139333646, 139333658-139333666, 139333673, 139333676, 139333692-139333871
835NOTCH190.03325508607198774137668139390523-139390561, 139390571-139390655, 139390663-139390669, 139390680-139390714, 139390718-139390733, 139390755-139391037, 139391062-139391169, 139391176-139391980, 139391988-139392010, 139393351-139393368, 139393376, 139393408-139393448, 139393564-139393711, 139395004-139395071, 139395084-139395299, 139396200-139396365, 139396453-139396475, 139396503-139396540, 139396724-139396792, 139396802-139396940, 139397634-139397712, 139397730-139397755, 139397768-139397782, 139399125-139399556, 139399762-139400112, 139400118-139400333, 139400979-139401091, 139401168-139401425, 139401757-139401791, 139401810-139401811, 139401821-139401889, 139402407-139402589, 139402684-139402837, 139403322-139403523, 139404185-139404298, 139404305-139404335, 139404342-139404413, 139405105-139405257, 139405604-139405699, 139405707-139405723, 139407473-139407586, 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
836AGPAT290.16965352449223695837139568204-139568220, 139568239-139568317, 139568320-139568332, 139568341-139568345, 139568373-139568379, 139569196-139569229, 139571037-139571132, 139571413-139571491, 139571508-139571513, 139571516-139571536, 139571540-139571575, 139571875-139571983, 139571996-139572006, 139581628-139581809
837SLC34A390.1615121800140126158-140126176, 140126199, 140126208, 140126539-140126548, 140126554-140126555, 140126564-140126567, 140126570-140126592, 140126606-140126613, 140127027-140127111, 140127124, 140127135-140127155, 140127236-140127269, 140127314-140127369, 140127456-140127493, 140127503-140127544, 140127661-140127685, 140127707-140127765, 140127772-140127817, 140127823-140127854, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129074, 140129087-140129156, 140130404-140130868
838EHMT190.5642802155504216983897140513481-140513501, 140605419-140605482, 140611078-140611634, 140622866-140622897, 140622940-140622981, 140638513, 140669561-140669572, 140669596-140669680, 140669686-140669693, 140669699-140669704, 140671084-140671091, 140671095-140671102, 140671132, 140671135-140671173, 140671195-140671224, 140671234, 140671237-140671239, 140671251-140671284, 140671288-140671296, 140672345-140672405, 140672412-140672420, 140672447-140672507, 140674087-140674101, 140674126, 140674151-140674169, 140676843-140676849, 140695399, 140695420, 140705918, 140705939-140705963, 140706012, 140706015-140706016, 140706026-140706067, 140707520-140707542, 140707556, 140707559-140707560, 140707573, 140707576, 140707591-140707613, 140707841, 140707849-140707865, 140707881, 140707905-140707944, 140707967-140707973, 140708883-140708898, 140708910-140708956, 140710400, 140710454-140710490, 140711891-140711892, 140711907-140711908, 140711935-140711947, 140711953, 140711961, 140712512-140712538, 140728801-140728809, 140728818-140728844, 140728860-140728862, 140728873-140728889, 140728892-140728901, 140728921-140728923, 140728927-140728957, 140728960, 140728965-140728973, 140729228-140729237, 140729280-140729282, 140729285-140729362, 140729371-140729373, 140729383-140729405
839SHOXX0.52673492605233416879591633-591863, 591879-591909, 595353-595370, 595391-595394, 595432-595561, 605255-605256
840CSF2RAX0.653639846743345213051401603, 1404671-1404703, 1404758-1404784, 1404803, 1404806, 1407765, 1409333-1409339, 1409361-1409383, 1413227-1413285, 1413321-1413354, 1414331, 1419384-1419413, 1419427, 1419436-1419497, 1419511-1419519, 1422154-1422158, 1422168-1422255, 1422816-1422884
841ARSEX0.991525423728811517702852919-2852930, 2853016-2853017, 2853021
842KAL1X0.986784140969162720438503827-8503833, 8700002-8700013, 8700018-8700022, 8700073-8700075
843SMSX0.9654859218891938110121958943-21958980
844ARXX0.9928952042628812168925031654-25031665
845RPGRX0.81324082104655646345938145130-38145146, 38145186-38145218, 38145267-38145493, 38145501-38145754, 38145770-38145799, 38145807-38145829, 38145859-38145883, 38145958-38145959, 38146012-38146030, 38147129-38147137, 38147226-38147230, 38147243-38147244
846NYXX0.85338865836791212144641332761-41332784, 41332795, 41332799, 41333090-41333116, 41333270-41333313, 41333336-41333374, 41333400-41333435, 41333460-41333475, 41333538-41333558, 41333987-41333989
847SYN1X0.99858356940513211847478777-47478779
848CACNA1FX0.9873609706774575593449061711-49061732, 49062972-49062985, 49063196, 49063548-49063552, 49065780-49065782, 49065786-49065794, 49067145-49067146, 49067543-49067552, 49067929-49067937
849FOXP3X0.9637345679012347129649107816-49107824, 49107893-49107904, 49114866, 49114891-49114914, 49114917
850ARX0.9927614911328320276366765159-66765175, 66766357-66766359
851TAF1X0.9977120732136613568270586199-70586205, 70586214-70586215, 70586230-70586233
852SLC16A2X0.997828447339854184273641402-73641404, 73641407
853PCDH19X0.997882637628557330699663558-99663564
854BTKX0.998989898989921980100608278-100608279
855AGTR2X0.998168498168521092115303656-115303657
856OCRLX0.9977827050997862706128674438-128674443
857ZIC3X0.9978632478632531404136648985-136648987
858SOX3X0.9932885906040391341139586144-139586152
859AFF2X0.999491869918723936147582618-147582619
860FAM58AX0.9809523809523814735152864469-152864477, 152864504, 152864516-152864519
861SLC6A8X0.862159329140462631908152954030-152954291, 152960296
862ABCD1X0.789991063449514702238152990835-152990843, 152990889-152990931, 152990974-152991021, 152991163-152991204, 152991234-152991261, 152991297-152991304, 152991358-152991359, 152991427-152991460, 152991531-152991536, 153001566-153001576, 153001602-153001619, 153001669, 153001823-153001835, 153001940-153001959, 153002674-153002687, 153006133-153006144, 153008473-153008486, 153008675-153008678, 153008719-153008734, 153008981-153008987, 153009014-153009042, 153009079-153009116, 153009126-153009178
863L1CAMX0.98993110757817383774153130621-153130627, 153133314-153133318, 153133326, 153133784-153133787, 153134357-153134360, 153135545-153135561
864AVPR2X0.9964157706093241116153171145-153171148
865MECP2X0.96593186372745511497153363072-153363122
866OPN1LWX0.9917808219178191095153424351-153424359
867OPN1MWX0.9990867579908711095153455586
868OPN1MWX0.98904109589041121095153492704, 153492708, 153492716, 153498599-153498607
869FLNAX0.7494964753272919907944153577374-153577378, 153577388, 153577392, 153578429-153578438, 153578519-153578524, 153579289-153579292, 153579401-153579407, 153579950-153579971, 153580329-153580352, 153580367, 153580615-153580619, 153580672-153580695, 153580755-153580759, 153580794-153580806, 153580949-153580950, 153580953-153580979, 153581211-153581217, 153581428-153581437, 153581498-153581525, 153581559-153581562, 153581703-153581747, 153581956-153581957, 153581984-153581987, 153582072-153582078, 153582331-153582341, 153582374-153582397, 153582404, 153582409, 153582554-153582555, 153582610-153582626, 153583021-153583025, 153583069-153583079, 153583210-153583221, 153583319-153583346, 153583416-153583440, 153585823-153585853, 153585968-153585974, 153586567-153586606, 153586631-153586641, 153586644-153586645, 153586650, 153586836-153586841, 153587352-153587389, 153587420-153587426, 153587466, 153587479-153587481, 153587614-153587637, 153587668, 153587672-153587703, 153587852-153587853, 153587927-153587936, 153587943-153587946, 153587960-153587961, 153587966-153587975, 153587998-153588014, 153588116-153588134, 153588150-153588169, 153588191-153588227, 153588360-153588396, 153588418-153588432, 153588467-153588472, 153588476-153588483, 153588541-153588571, 153588582-153588590, 153588595, 153588603-153588608, 153588682-153588696, 153588725-153588770, 153588777-153588781, 153588841-153588845, 153588879-153588892, 153589680-153589682, 153589782-153589784, 153589806-153589807, 153589811-153589845, 153590038-153590046, 153590124-153590143, 153590379-153590388, 153590423-153590431, 153590611-153590633, 153590799-153590803, 153590815, 153590830-153590841, 153590877-153590881, 153591030-153591046, 153592402-153592441, 153592627-153592633, 153592644, 153592657-153592693, 153592971-153592992, 153593075-153593087, 153593265-153593266, 153593511-153593517, 153593621, 153593719-153593754, 153593783-153593784, 153593810-153593839, 153593843, 153594392-153594394, 153594397-153594399, 153594440-153594492, 153594526-153594534, 153594708-153594726, 153594760-153594776, 153594816, 153594819-153594838, 153594930, 153595117-153595130, 153595155-153595186, 153595203-153595218, 153595765-153595826, 153595868-153595881, 153596009-153596018, 153596042-153596054, 153596064-153596106, 153596210-153596245, 153596274-153596278, 153596305-153596335, 153596349-153596379, 153596405-153596414, 153596439-153596458, 153599241-153599278, 153599284-153599326, 153599358-153599375, 153599395-153599406, 153599432-153599474, 153599518-153599613
870EMDX0.74771241830065193765153607871-153607889, 153608050-153608115, 153608135-153608154, 153608329-153608341, 153608594-153608617, 153609129-153609155, 153609160, 153609280-153609284, 153609429-153609442, 153609447, 153609454, 153609460, 153609473
871TAZX0.84664131812421121789153640232-153640240, 153640251, 153640265-153640289, 153640423-153640438, 153640477-153640516, 153640548-153640551, 153641544-153641558, 153641825, 153641830, 153641834-153641840, 153641845, 153641857
872GDI1X0.94642857142857721344153665601-153665614, 153668404-153668417, 153668477-153668480, 153668483, 153670140-153670141, 153670458-153670459, 153670599-153670602, 153670733-153670763
873G6PDX0.98534798534799241638153760286-153760294, 153760300-153760302, 153760656, 153760660, 153760667-153760676
874IKBKGX0.98975409836066151464153792573-153792587
875IKBKGX0.9693251533742315489153868340-153868354
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3PRNP-M129Vhomozygous0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
3TCF21-G22Vhet unknown0.061Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2BRCA2-N372Hhomozygous0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.125WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125WFS1-V871Mhet unknown0.008Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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
1SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-R8735Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-S7506Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-D4148Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B4GALNT3-R265Qhomozygous0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.096 (benign)
1B4GALNT3-K411Rhomozygous0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.236 (possibly damaging)
1B4GALNT3-R992Hhomozygous0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-P491Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
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)
1AKAP9-H47Yhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-M463Ihomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-DE918IKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K921Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1NPHS1-R408Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ABCC2-G693Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.062Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PARK2-D394Nhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), 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
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BC040901-C89Whomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BC040901-P93Shomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BC040901-A106Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC11-H1344Rhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABCC11-A317Ehet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1ABCC11-R19Hhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RPGRIP1L-T1143Shomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NOP10-D12Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1TSEN54-P483Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), 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
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
1SLC41A3-L501Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRT10-Y557SSSGGHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-S553SSGGHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-S551SGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-S551YGGhet 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
1MICA-A47Thomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1MICA-Y59Chomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MICA-V152Mhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MICA-E196Khomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MICA-S229Ghomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MICA-R233Whomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1MICA-I236Thomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MICA-T238Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MICA-G318Shifthomozygous0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y48Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF792-N425Dhomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
1ZNF792-R177Qhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1DPYD-V732Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CROCC-E1037Qhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1S100A7A-R23Hhomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
1DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DMD-R2155Whomozygous0.027Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CXorf59-R424ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OPN1MW-M153Lhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1TTN-R32018HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R29962HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T24045MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R22371ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V19783Ihomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihomozygous0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P17286LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R16903HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E10146EVLPEEEEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N7559Shomozygous0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S7181Nhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A7111Ehomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E6900Ahomozygous0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D6218Hhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V2823Fhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PRRG1-P135ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC38A5-M451Thomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VWA3B-E372*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1VWA3B-L677Vhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWA3B-D1223Ehomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
1VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-D3144Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-N3099Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.662 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-R2875Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-D644Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1CHAT-L243Fhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75FLNC-S480Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shet unknown0.734Unknown
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
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP6-W475Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP6-R912Qhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.975 (probably damaging)
0.5USP6-R1101Whet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phomozygous0.298Unknown
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
0.5FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shomozygous0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NEURL4-M1418Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NEURL4-R1406Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5NEURL4-Q1019Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.6 (possibly damaging)
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
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP4F2-V433Mhomozygous0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.5CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5RAD51AP2-G1037Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5RAD51AP2-R976Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5RAD51AP2-V876Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.242 (possibly damaging)
0.5RAD51AP2-S760Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5RAD51AP2-C533Yhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAD51AP2-T531Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5RAD51AP2-Q490Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5RAD51AP2-T488Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.375 (possibly damaging)
0.5MYH14-P31Thet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH14-V1473Mhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PER1-A962Phomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.212 (possibly damaging)
0.5PER1-P859Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5LDHD-H208Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K4087Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520LERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-M15Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCGBP-A5017Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FCGBP-D4906Hhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5FCGBP-G4465Shet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5FCGBP-S4284Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5FCGBP-S1961Phet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-T1524Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.244 (possibly damaging)
0.5FCGBP-N770Shet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5MYH11-A1241Thomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRAP1-R692Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.483 (possibly damaging)
0.5TRAP1-R307Ghomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRAP1-S259Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5THAP8-K112Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5THAP8-R70Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFP90-H114Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging)
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-P1122Lhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLX4-A952Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-L671Shet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-R204Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BBS2-I123Vhomozygous0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH11-S373Ahomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH11-V347Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CDH11-T255Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5CYP2A7-V479Ghomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-M368Thet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CYP2A7-R311Chomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-S294Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP2A7-H274Rhomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5CYP2A7-D169Ehomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.46 (possibly damaging)
0.5CYP2A7-S153Ahomozygous0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOH-S107Nhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-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
0.5SGSH-R456Hhomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYSF-M986Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYSF-E1083EAEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK2-I2157Vhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-R1884Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.699 (possibly damaging)
0.5ALPK2-H1767Yhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ALPK2-Q1579Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.183 (benign)
0.5ALPK2-F1389Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-H1174Phet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K2Thet unknown0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1632-A1511Vhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1632-S1083Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5KIAA1632-E844Dhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TXNDC2-P231Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-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
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEKT4-R344Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEKT4-S349Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.886 (probably damaging)
0.5LENG8-R279Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABHD15-R448Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C3-V916Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C3-L595Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSH2-G322Dhet unknown0.011Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.065 (benign), Testable gene in GeneTests with associated GeneReview
0.5CARD8-V43Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CARD8-C10*het unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC4A1-S745Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC4A1-K56Ehet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5MERTK-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
0.5ETV4-R437Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5KRTAP3-2-R27Chomozygous0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-R142Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-PQ1322LLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BMPR1A-P2Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTBD16-R318Qhet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTBD16-H439Phet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTBD16-Q472Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging)
0.5CDHR1-H53Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5ZMYND17-L417Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.27 (possibly damaging)
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5PCDH15-P1794Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-R934Qhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-G385Shet unknown0.235Unknown
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-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
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
0.5CARS-A241Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZBED5-I480Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.494 (possibly damaging)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POLA2-G583Rhomozygous0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-V1572Ihet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRR5L-A41Thet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
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
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL9A2-Q326Rhomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM151A-P335Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GJB4-V52Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-A161Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5TAS1R1-K347Ehomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAS1R1-R507Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.414 (possibly damaging)
0.5PER3-A18Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PER3-V639Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PER3-L827Phomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PER3-M1028Thet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PER3-H1149Rhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARK7-R98Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5HSPG2-S4331Nhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V3640Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM82-L308Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM82-L309Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMB3-M852Lhomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NUP133-G854Dhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NUP133-Q406Rhomozygous0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUP133-I294Vhomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5OVGP1-E676Qhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-S536Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-T533TTGQKTLThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OVGP1-T523Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OVGP1-Y514Hhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-S511Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCRL4-P12Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5NPHS2-R229Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5NDUFS2-P352Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD52-Y415*het unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-P52Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-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-Y5286Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PYGL-I806Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHRS4L1-R5Ghet unknown0.342Unknown
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
0.5DNAH7-R3983Whet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-M879Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.167 (benign)
0.5DNAH7-R545Chomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AVEN-G234Whet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5AVEN-Q228Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1A1-T461Nhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5KIAA1024-N258Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5WHAMM-T164Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WHAMM-I504Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5WHAMM-H736Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5STRC-R1521Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NM_032802-N126Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CEP152-L914Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACIN1-S647SRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S478Fhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging)
0.5ACIN1-S467Phet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DZIP1-C604Whet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HOXC10-K55Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HOXC10-L66Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5MMAB-M239Khomozygous0.598Unknown
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
0.5FAM186A-R2174*het unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM186A-H2166Yhomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-A1720Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM186A-A465Ghomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM186A-K463Thomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDKN1B-V109Ghomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), 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)
0.5LRRK2-N551Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.093Unknown
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
0.5TUBA1B-C295Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-C295Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-D218Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TUBA1B-R214Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TUBA1B-Y210Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-Y210Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5ACADS-R171Whet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.587 (possibly damaging), Testable gene in GeneTests
0.5ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLN5-N242Khet unknown0.010Unknown
not reviewed
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
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V0A2-N850Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCOR2-P2008Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NCOR2-A2007Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PARP4-A1656Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I1564Thomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1550Phomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1459Yhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1394Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-P1328Thet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-G1280Rhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-G1265Ahet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-R1108Chomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-V1065Ahomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-M936Thomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-A899Thomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I81Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-T725Phomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-E886Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CC2D2A-E229Delhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-H-S13Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G217Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIRT5-E305Ghet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.861 (probably damaging)
0.5PAK1IP1-G124Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HMMR-R333Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HMMR-L596Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5COL23A1-T287Ahet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5COL23A1-R267Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MAML1-G97Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.403 (possibly damaging)
0.5MAML1-A923Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-Q64Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phet unknown0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKHD1-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-S3505Rhet unknown0.008Unknown
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-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5EFHC1-I619Lhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5PRIM2-E181Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S259Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-L286Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y287Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H289Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-N298Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRIM2-C302Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G304*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRIM2-V310Dhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-T323Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Q325*het unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRIM2-D342Ghet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y345Chet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-R349Chet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G434Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H445Qhet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.5CUL7-A594Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5SKIV2L-Q151Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-M214Lhomozygous0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-V917Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SKIV2L-A1071Vhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-K3015Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2731Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D167Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP49-D636Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAPK13-A300Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NIPAL4-R213Ghomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK1-T458Ahet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALPK1-H642Rhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-S710Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ALPK1-M861Thet unknown0.681Unknown
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
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), 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
0.5TET2-P363Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.917 (probably damaging)
0.5TET2-L1721Whet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5TET2-I1762Vhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APBB2-R179Qhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APBB2-Y165Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5SPATA18-T145Ihet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5SPATA18-S227Phet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5YTHDC1-H183Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5ABCG2-Q141Khet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CARD6-L30Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MOCS2-T50Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-V595Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027706-G109Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HEXB-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
0.5IQGAP2-V455Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-D527Ehomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-L629Fhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-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
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G2045Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FILIP1-L282Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5SLC30A8-R325Whomozygous0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WISP1-A205Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5JRK-R499Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-G476Rhet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5JRK-W463Shifthomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5JRK-T30Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FRMPD1-P1178Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5BMP1-G712Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-A1670Thomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB3-E755Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-I307Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (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
0.5PEX2-C184Rhomozygous0.989Unknown
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
0.5IPPK-L376Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
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
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
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
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5REXO4-T283Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5REXO4-R141Khet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhet unknown0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF212-H293Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging)
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWDE-F1485Chomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khomozygous0.492Unknown
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-T1032Mhet unknown0.748Unknown
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-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-G340Dhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-L349Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahomozygous0.350Unknown
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-D1640Ghet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-T1574Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5BACH2-L291Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5AIM1-Q293Phomozygous0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhomozygous0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTHFD1L-R563Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R43Khomozygous0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I338Thet unknown0.038Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RELN-S600Fhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.917 (probably damaging), Testable gene in GeneTests
0.5CFTR-V470Mhomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF133-M1Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
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
0.5PRSS1-S181Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-M183Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SAMD9L-Q1010Ehet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging)
0.5SAMD9L-F289Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WBSCR28-I14Nhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WBSCR28-W78Rhet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5WBSCR28-G137Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-S400Nhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MDH2-K301Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACAD9-A326Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.975 (probably damaging), Testable gene in GeneTests
0.5AMT-E211Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A2960Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-E1386Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FYCO1-R1140Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FYCO1-E994Khet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5FYCO1-R615Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5FYCO1-R250Qhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5E2F1-G200Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ROBO1-R922Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-Q1495Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhomozygous0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-Q2361Rhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5COL6A1-R850Hhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAB4-W206Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GAB4-G163*het unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), 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-K413Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-P1030Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-H1300Rhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5MLC1-C171Fhomozygous0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYCP2-M1003Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SYCP2-T751Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5MICALL1-H685Rhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5SUN2-R348Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GBE1-T507Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACADL-K333Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACADL-T38Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TF-G277Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TF-I448Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LYAR-H265Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYAR-D151Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.45 (possibly damaging)
0.375MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-D1275Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.375HADH-L86Phet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HADH-F92Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCD2-Q26Hhet 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
0.375SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375SACS-T458Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRIP1-E1188Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375CCM2-E433Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25AHDC1-A935Thomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.25AHDC1-M418Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZSWIM1-W9*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZSWIM1-R284Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPOCD1-P588Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPOCD1-T109Ahet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (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
0.25CYP3A7-R409Thet unknown0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25MMEL1-M518Thet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMEL1-V301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OR8U8-H20Rhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-V91Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S223Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-H229Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-E296Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARHGEF19-Q311*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ARHGEF19-E238Qhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.045 (benign)
0.25ARHGEF19-G163Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.186 (benign)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNH1-P170Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAJC28-L316Shifthomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25DNAJC28-E210*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-K493Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-M510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RHBG-D425Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FCGR3A-G183Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25ZNF367-I40Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF367-R36Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP8-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
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25EDARADD-M9Ihet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25LTBP1-L163Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LTBP1-V1379Ahomozygous1.000Unknown
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
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-E289Qhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STAB1-M912Vhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STAB1-D2042*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-A2547Vhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25POLQ-Q2513Rhomozygous0.667Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-I1421Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25POLQ-H1201Rhomozygous0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-T982Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-R66Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA0195-HD904RYhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIAA0195-N908Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BCR-H394Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BCR-I404Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BCR-N796Shomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-V10Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASKIN2-F756*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CASKIN2-L452Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACOT4-R57Chomozygous0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.346 (possibly damaging)
0.25ACOT4-A67Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF43-L418Mhomozygous0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IBSP-D213Ghet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IBSP-T239Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IBSP-T239Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BC037579-L308Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-P306Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-P305Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BC037579-H65Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25CPN2-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
0.25UGT2A3-A497Thomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.418 (possibly damaging)
0.25UGT2A3-L101*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TACC3-L273Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TACC3-V683Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25MESP1-R57Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MESP1-A56Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MESP1-A53Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLN3-H404Rhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25H1FOO-SR235TWhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25H1FOO-K237*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR116-N1315Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR116-M856Thet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPR116-T604Mhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC123-K282*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CCDC123-R194Whet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.25CYP2D6-C296Rhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-S528Ghet unknown0.173Unknown
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)
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FDX1-S63Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FDX1-D65Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FDX1-I67Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25KIAA1731-R208Qhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1731-A499Ehomozygous0.941Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KIAA1731-S1683Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1731-E2437Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DDX12-H825Phomozygous0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX12-T402Ihomozygous0.922Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX12-N283Dhomozygous0.885Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX12-R167Thomozygous0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DDX12-E142*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XIRP1-F1821Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25XIRP1-A1608Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PABPC3-Q172Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-RL206HFhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-M251Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-K254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PABPC3-RQTEL272Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-R278Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-T279Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-E345*het unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PABPC3-V365Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-E372Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-R374Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-Y377Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-E381Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-R469Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25PABPC3-R475Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-P260Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNDP1-L17Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CNDP1-I113Vhet unknown0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DPB1-LF37VYhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-G40Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-E62Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.25HLA-DPB1-F64Yhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HLA-DPB1-A65Vhet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-A84Dhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-A85Ehet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-I94Lhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-K98Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DPB1-G113Dhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-GP114EAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DPB1-M116Vhet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DPB1-R125Khet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-T199Ihet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25HLA-DPB1-L207Mhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-*259Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
0.25TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0SH3BP2-E421Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0SERPINA1-E288Vhet unknown0.030Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0ATXN1-H226Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0GRN-E476*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0KCNQ4-A56Shifthet 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)

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,723,824,873 bases (95.3% of callable positions, 88.4% of total positions)

Coding region coverage: 30,792,726 bases (92.5% of all genes, 93.9% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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