hu42B622 - GET-Evidence variant report

Variant report for hu42B622

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1APOE-C130RHighWell-establishedWell-established pathogenic

Complex/Other, Heterozygous
0.135392This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).1
2TYR-T373KModerateWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
Numerous reports confirm this is a well-established cause of oculocutaneous albinism type 1 (recessive). Oetting, et al. 1991 reported this variant as compound heterozygous in one of three patients. Gershoni-Baruch, et al. 1994 found it compound heterozygous in 2 of 38 cases. Later studies further confirm variant, e.g. Hutton et al. 2008 (4 compound het carriers in 36 patients, PMID 18326704) and the same authors later found it heterozygous in 23 out of 121 patients (PMID 18463683).1
3OPTN-M98KModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0613497This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.1
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
5PRF1-A91VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0325339This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.1
6MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
7MTRR-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
8WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
9ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Homozygous
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
10RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
11SP110-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
12BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
13ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
14rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
15FUT2-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
16CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
17PCSK9-R46LModerateLikelyLikely protective

Unknown, Heterozygous
0.0101389This variant is reported to have a dominant protective effect against coronary heart disease. Carriers of this variant have about half the risk of coronary heart disease compared to non-carriers (6.3% risk in carriers vs. 11.8% risk in non-carriers).1
18PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
19NPC1-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
20IL7R-T244ILowLikelyLikely protective

Unknown, Homozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
21TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
22KCNJ11-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
23IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
24ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
25OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
26CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
27NEFL-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
28LOXL1-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
29RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Homozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
30GJB3-R32WLowUncertainUncertain benign

Unknown, Heterozygous
0.022309Probably benign. Although Polyphen 2 predicts it be damaging and some publications suggested it might have a functional effect, others report it to be a fairly common polymorphism and functional studies failed to find a difference between it and wild type.1
31TYR-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
32PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
33PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
34GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
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
35CASP8-M1TLowUncertainUncertain benign

Unknown, Heterozygous
0.0310451Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic.1
36APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
37PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
38RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
39TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
40TAS2R38-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
41SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
42TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32327141 / 33282720 = 97.13%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.6321277289019222586138955553-955753, 957605-957621, 957657-957702, 957722-957795, 957813-957842, 970657-970659, 970704, 976045-976084, 976094-976119, 976167-976260, 976564-976585, 976591-976636, 976667-976689, 976711, 976716-976746, 976763, 976775-976777, 976870, 976876, 976912-976953, 977002, 977056-977082, 978663-978697, 978725, 978737-978738, 978775, 978801, 978918-978956, 979006-979013, 979056, 979059, 979065-979074, 979086-979112, 979325-979327, 979359, 979370-979382, 979394-979403, 979551-979577, 979773-979779, 980589-980590, 980594-980597, 980601-980608, 980627, 980637, 981146, 981202, 981242, 981245, 981349, 981435-981468, 981561, 981630-981645, 981804-981831, 981894-981937, 981948, 981952-981986, 981992-982004, 982024-982045, 982048-982049, 982060-982064, 982083, 982091-982096, 982212-982296, 982309-982310, 982314, 982320-982337, 982725, 982734, 982737-982741, 982803-982821, 982953-982961, 982968-982997, 983009-983042, 983057-983060, 983063-983067, 983269, 983398-983428, 983443-983477, 983480-983484, 983497-983499, 983502-983522, 983525, 983538, 983552-983588, 983599-983745, 984247-984273, 984283-984357, 984419, 984429-984430, 984616-984671, 984680-984681, 984690-984698, 984735, 984755, 984761, 984787-984831, 984954, 984966, 984971, 985005-985013, 985141-985170, 985303-985321, 985368, 985372-985386, 985414-985417, 985613-985617, 985678, 985861, 985875, 985961-985971, 986194-986217, 986676-986749, 986833-986845, 986855, 986865-986894, 986899-986902, 986926, 987002-987025, 987108-987147, 987181, 989157-989191, 989203, 989295, 990277-990315, 990344-990350
2GABRD10.7799852832965429913591950863-1950921, 1950930, 1956384-1956402, 1956814, 1956962-1956965, 1957022-1957025, 1957037, 1957062, 1957104-1957119, 1957144, 1959605-1959609, 1959625-1959626, 1959636-1959637, 1960551-1960556, 1960570-1960572, 1960575-1960581, 1960641-1960648, 1960672, 1960990-1961014, 1961049-1961058, 1961138-1961187, 1961422-1961438, 1961448-1961449, 1961461-1961493, 1961535-1961546, 1961612-1961620
3PEX1010.874617737003061239812337923-2337938, 2337943, 2340007, 2340013, 2340022-2340023, 2340028-2340032, 2340197-2340206, 2343830-2343847, 2343853-2343876, 2343884-2343903, 2343912-2343936
4NPHP410.9670637701471614142815947456-5947463, 5950952-5950956, 6038330-6038366, 6038383-6038473
5ESPN10.8881091617933728725656485016, 6485026-6485044, 6485068, 6485075, 6485102-6485122, 6485131-6485172, 6485244, 6485278-6485282, 6485285, 6488301-6488336, 6488378-6488392, 6488426-6488432, 6488463-6488479, 6500386-6500392, 6500485, 6500712, 6500741, 6500768, 6500863-6500868, 6505851-6505855, 6508701-6508705, 6508760-6508766, 6508851-6508888, 6508922-6508928, 6509034-6509060, 6509100-6509106, 6512127-6512133
6PLEKHG510.982753214173725531896529183-6529185, 6534556, 6534562, 6534643-6534647, 6535533, 6536018, 6556553-6556556, 6556565, 6556589-6556622, 6557380-6557383
7PEX1410.994708994708996113410684439-10684444
8TARDBP10.9734939759036133124511082261, 11082339-11082363, 11082630-11082636
9MASP210.8471615720524315206111102932-11102948, 11102966-11102993, 11103044-11103047, 11103401-11103440, 11103454-11103506, 11103525-11103538, 11103561-11103570, 11103577, 11105465, 11105483, 11105494, 11105510-11105523, 11105530-11105537, 11105545, 11105549-11105555, 11105588-11105590, 11106639-11106673, 11106690-11106691, 11106695, 11106701, 11106757-11106790, 11107003-11107030, 11107171-11107176, 11107260-11107264
10MTHFR10.9812278031456137197111853977-11853978, 11853987-11853989, 11853992-11853996, 11854005-11854015, 11854018, 11854536-11854538, 11854543-11854553, 11854896
11PLOD110.998626373626373218412030752-12030754
12CLCNKA10.92490310077519155206416354394, 16355726-16355736, 16355740, 16355781-16355794, 16356496-16356509, 16356956-16356993, 16357004-16357019, 16357053, 16358218, 16358325-16358331, 16358709-16358716, 16358767-16358786, 16358941-16358945, 16359001-16359007, 16359675, 16359735-16359743, 16360144
13CLCNKB10.89292635658915221206416372090, 16372101-16372108, 16372115, 16373140-16373152, 16377057-16377061, 16377374-16377375, 16377403-16377406, 16377423-16377429, 16377524-16377529, 16378205-16378213, 16378693-16378708, 16378731-16378801, 16378826-16378832, 16378861-16378863, 16378895, 16378901-16378903, 16380136, 16381930-16381932, 16381956-16381987, 16382005, 16382175-16382183, 16382236-16382253
14ATP13A210.9720575783234599354317312804-17312805, 17313613-17313632, 17313691, 17314951-17314965, 17318323-17318325, 17318815, 17320267-17320287, 17322480, 17322484, 17322569-17322570, 17322631-17322643, 17323563-17323565, 17326517-17326527, 17326556-17326560
15ALPL10.998095238095243157521900273-21900275
16HSPG210.99438372799029741317622176931, 22176935, 22176942-22176949, 22186106, 22263648-22263710
17WNT410.9270833333333377105622469339-22469415
18SEPN110.89028776978417183166826126722-26126904
19KCNQ410.93342911877395139208841249766-41249815, 41249835-41249894, 41249920-41249929, 41249934, 41249937-41249952, 41249960-41249961
20SLC2A110.998647734956052147943408913-43408914
21POMGNT110.998991427130612198346661560-46661561
22STIL10.998448409619866386747735424, 47748035, 47748038-47748040, 47748104
23PCSK910.9975949975955207955521666-55521668, 55521735, 55521842
24DPYD10.9957764782326213307897847949-97847952, 97848009-97848017
25COL11A110.9992669965182345457103364497-103364500
26GSTM110.989345509893467657110230836-110230842
27VANGL110.9987301587301621575116227955, 116228083
28NOTCH210.98948220064725787416120539778-120539784, 120539834-120539840, 120548022-120548058, 120572544-120572550, 120572609-120572610, 120611992-120612009
29FLG10.9322172985393182612186152276242-152276279, 152276733, 152276737, 152276904, 152278431-152278437, 152279382-152279409, 152279642, 152279649, 152279841, 152279848, 152279889-152279913, 152279971-152279977, 152280135, 152280232-152280255, 152280358-152280360, 152280603-152280617, 152280864, 152280867, 152280999-152281012, 152281073, 152281209-152281231, 152281290, 152281327, 152281758-152281775, 152281938, 152282050-152282060, 152282126-152282139, 152282235, 152282418, 152282498, 152282507, 152282557-152282565, 152282572, 152282654-152282660, 152282985, 152282988-152283006, 152283060, 152283089-152283120, 152283163-152283206, 152283231-152283239, 152283836, 152284068, 152284074, 152284087, 152284090, 152284095, 152284099, 152284130, 152284138, 152284142-152284143, 152284146, 152284175-152284217, 152284305, 152284341-152284344, 152284361, 152284368, 152284421-152284427, 152284524, 152284623, 152284961, 152284992-152285023, 152285033-152285074, 152285202, 152285401, 152285404-152285405, 152285725-152285732, 152285775, 152285870-152285873, 152285999-152286041, 152286156, 152286254-152286284, 152286441-152286444, 152286485, 152286593-152286598, 152286615, 152286705-152286709, 152286712-152286732, 152286841-152286845, 152286851-152286860, 152286881-152286904, 152286949-152286970, 152287005-152287012, 152287016-152287031, 152287171, 152287181-152287223, 152287795-152287807, 152287810-152287812, 152287834-152287835, 152287861-152287895
30LMNA10.9979949874686741995156108871-156108874
31F510.99700374531835206675169510460-169510479
32GJC210.62803030303034911320228345563-228345569, 228345608-228345611, 228345636, 228345646, 228345652-228345671, 228345716-228345765, 228345785-228345806, 228345836-228345843, 228345897, 228345901, 228345912-228345917, 228345922, 228345946-228346035, 228346044-228346059, 228346084-228346106, 228346154-228346186, 228346281-228346315, 228346323-228346330, 228346359, 228346368, 228346397-228346399, 228346419-228346457, 228346472-228346503, 228346508, 228346541-228346576, 228346601, 228346608-228346609, 228346672-228346676, 228346717-228346758, 228346774
33ACTA110.9982363315696621134229568120-229568121
34LYST10.998860248991761311406235875432-235875442, 235875449, 235897787
35RYR210.99986580783682214904237729978-237729979
36OPTN100.9925028835063413173413151244-13151254, 13151260-13151261
37DCLRE1C100.9894179894179922207914981847-14981868
38PTF1A100.99898682877406198723481535
39MYO3A100.999381570810143485126500883-26500885
40RET100.9868460388639844334543572707-43572708, 43572724-43572745, 43572750-43572752, 43572756-43572759, 43572770-43572775, 43595996-43595999, 43598033, 43598051, 43606898
41ERCC6100.998215082552438448250708700-50708701, 50740789-50740794
42EGR2100.99790356394133143164573471-64573473
43CDH23100.99850835322196151005673439154-73439155, 73447405-73447407, 73453951-73453954, 73464874-73464877, 73501458-73501459
44LDB3100.9949633699633711218488466336-88466341, 88476185-88476187, 88476214, 88476512
45GLUD1100.999403697078121167788836365
46CYP17A1100.9980353634577631527104592352-104592354
47BAG3100.9982638888888931728121436739-121436741
48HTRA1100.96327096327096531443124221203-124221228, 124221356-124221382
49HRAS110.9771929824561413570532663-532664, 532667-532674, 533463, 533930-533931
50TALDO1110.92110453648915801014747482-747502, 747525, 747555, 747560-747563, 760235, 760241, 763355-763391, 763418, 763432, 763518-763519, 763895-763904
51SLC25A22110.75411522633745239972791945, 791950, 791960-791961, 791966-791969, 792066-792068, 792190, 792193-792205, 792337-792347, 792353, 792388-792394, 792452-792453, 792578, 792583-792668, 792671-792673, 792727, 792870-792897, 792906-792919, 792982-792988, 793537-793541, 793557, 793565, 793605-793619, 794465, 794494-794495, 794510, 794776-794792, 794852-794856, 794895, 794900, 794999, 795005-795006
52PNPLA2110.94257425742574871515819719-819744, 819752-819770, 819792-819794, 819888, 819896, 819904, 821823, 823533-823539, 824019, 824027-824029, 824067, 824324-824330, 824673-824682, 824687, 824829-824833
53CTSD110.8490718321226818712391774896-1774900, 1775040-1775048, 1775289-1775337, 1775343-1775368, 1778563-1778568, 1780262-1780268, 1780751, 1780754, 1782661-1782675, 1785022-1785089
54TNNI2110.90528233151184525491861454, 1861463-1861468, 1861639, 1861649, 1861653-1861654, 1861760, 1861765-1861779, 1862062, 1862088-1862107, 1862262-1862263, 1862267, 1862716
55TNNT3110.621621621621622947771946334-1946346, 1947938, 1951040-1951048, 1951057, 1953723-1953729, 1954969-1954973, 1954978, 1954989-1954997, 1955002, 1955053, 1955056-1955059, 1955163-1955219, 1955226-1955238, 1955562-1955565, 1955575, 1955604, 1955618-1955620, 1955624-1955627, 1955633-1955634, 1955671, 1955674, 1955804-1955841, 1955864-1955885, 1956059-1956089, 1956108, 1956143-1956149, 1958203, 1959668-1959722
56IGF2110.94514767932489397112154217-2154254, 2154830
57TH110.8406349206349225115752185504-2185509, 2185551, 2185559, 2185564-2185567, 2186462-2186489, 2186516-2186523, 2186556-2186557, 2186564, 2186568, 2186571-2186577, 2186587-2186595, 2186898-2186899, 2186908-2186944, 2187232-2187261, 2187747-2187771, 2187935-2187952, 2188117-2188129, 2188245-2188262, 2188687-2188688, 2189105, 2189114-2189117, 2189126, 2189731-2189738, 2190925, 2190962-2190964, 2191022, 2191936-2191954
58KCNQ1110.9320531757754813820312466329-2466356, 2466415-2466416, 2466453-2466475, 2466488, 2466497-2466510, 2466520-2466527, 2466530-2466531, 2466543, 2466558-2466566, 2466595-2466615, 2466651-2466679
59CDKN1C110.38696109358575839512905236, 2905245-2905247, 2905312-2905321, 2905900-2905909, 2905915-2905937, 2905941-2905954, 2905964-2906018, 2906038-2906265, 2906277-2906287, 2906316-2906406, 2906413, 2906426, 2906457-2906530, 2906538-2906567, 2906582-2906612
60SMPD1110.99947257383966118966411935
61WT1110.9755469755469838155432449505-32449510, 32456619-32456621, 32456625-32456653
62ALX4110.9773462783171528123644331284-44331311
63SLC35C1110.999053030303031105645827834
64F2110.999464954521131186946747508
65MYBPC3110.998692810457525382547357491, 47369001, 47372935-47372936, 47372947
66BEST1110.998293515358363175861723278-61723279, 61724470
67ROM1110.9895833333333311105662380787-62380792, 62380795-62380797, 62380803, 62380824
68SLC22A12110.93622141997593106166264359106-64359114, 64359230, 64360277, 64361161-64361165, 64361185, 64361219-64361230, 64367210-64367228, 64367237-64367288, 64367325, 64367352-64367356
69SPTBN2110.99986058831731717366475101
70CABP4110.9975845410628282867225923, 67225987
71AIP110.937562940584096299367256772, 67256775-67256784, 67256788-67256790, 67256812-67256815, 67256873-67256897, 67257527, 67257585-67257595, 67257606, 67257640, 67257645, 67257823, 67257827, 67257896, 67258391
72NDUFS8110.973143759873621763367799803, 67800392, 67803974-67803988
73TCIRG1110.9935820296831116249367811339, 67816620-67816627, 67817205-67817209, 67817248, 67818271
74LRP5110.97710396039604111484868080183-68080271, 68207340-68207353, 68213969, 68213977-68213978, 68216453, 68216464-68216467
75IGHMBP2110.998323272971165298268671466-68671469, 68671477
76MYO7A110.783393501805051440664876883797-76883825, 76883838-76883839, 76883841-76883847, 76883860, 76883863, 76883890-76883895, 76883912-76883916, 76885802-76885824, 76885830, 76885840-76885871, 76885893, 76885911-76885952, 76886418-76886443, 76886472-76886473, 76886495-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892438, 76892444-76892635, 76892997-76893000, 76893009-76893098, 76893105-76893200, 76893469-76893520, 76893532, 76893541-76893584, 76893612-76893645, 76894113-76894118, 76894127-76894134, 76894157-76894187, 76895633, 76895695-76895760, 76900410, 76900436, 76901093, 76901126-76901129, 76901171-76901172, 76901759-76901804, 76901811-76901854, 76903290, 76903293
77DLAT110.9917695473251161944111896973-111896988
78FXYD2110.9611872146118717438117693274-117693290
79DPAGT1110.9991850040749811227118967959
80CACNA1C120.99893308946807765612794934-2794940
81VWF120.988865197820429484426058968-6058970, 6058978, 6128064-6128087, 6131926-6131932, 6131955-6131982, 6132003-6132033
82TPI1120.9906666666666777506978456-6978462
83GYS2120.9872159090909127211221712050-21712073, 21715970-21715972
84KRAS120.98947368421053657025380253-25380258
85COL2A1120.999551971326162446448378380, 48391979
86MLL2120.9959070663296681661449421884, 49424125, 49424130, 49424142-49424144, 49425796, 49425824-49425826, 49425832, 49426632, 49426637-49426650, 49426812, 49426902, 49426906-49426908, 49426913-49426918, 49427047-49427049, 49427054-49427061, 49427155, 49427207-49427210, 49427869, 49431009-49431011, 49431556-49431557, 49432537, 49433311, 49433317, 49433327-49433332
87TUBA1A120.85307017543866745649522210-49522241, 49522438-49522471, 49522605
88KRT81120.9894598155467716151852681416, 52681437, 52682999-52683005, 52684950-52684956
89KRT86120.994524298425748146152695994-52696000, 52697952
90KRT6B120.92743362831858123169552843632-52843637, 52844243, 52844246, 52845397-52845438, 52845528-52845534, 52845571-52845604, 52845662-52845686, 52845798-52845804
91KRT6C120.9551622418879176169552865295-52865300, 52865925, 52867094, 52867105, 52867190, 52867230-52867263, 52867321-52867345, 52867457-52867463
92KRT6A120.962241887905664169552884732-52884737, 52886542-52886548, 52886681-52886714, 52886787-52886796, 52886908-52886914
93AAAS120.999390615478371164153708540
94MYO1A120.9961685823754812313257431764-57431768, 57437946-57437952
95CEP290120.9983870967741912744088519023, 88519088, 88520106, 88522723, 88532923-88532924, 88535016-88535021
96HAL120.998986828774062197496370225, 96370229
97GNPTAB120.9997348183505713771102224436
98TRPV4120.99503058103976132616110230596-110230602, 110246175-110246178, 110246203, 110246208
99ATXN2120.959411466260781603942111958702-111958707, 112036661-112036698, 112036742-112036761, 112036797, 112036809, 112036955, 112036968-112037026, 112037057-112037086, 112037130, 112037142, 112037263-112037264
100BRCA2130.99122550453349901025732906597-32906613, 32910523-32910526, 32911143-32911150, 32911201-32911206, 32911590-32911597, 32911985-32911999, 32914203-32914229, 32914591, 32920979, 32953553, 32954014, 32972655
101FREM2130.99936908517356951039261568-39261573
102SUCLA2130.9863505747126419139248571067-48571085
103ZIC2130.920575359599751271599100634394-100634409, 100634599-100634601, 100635008-100635013, 100637656, 100637661, 100637726-100637748, 100637795, 100637805-100637823, 100637839-100637880, 100637897, 100637907, 100637911, 100637925-100637936
104PCCA130.9995427526291712187101101559
105COL4A1130.99001996007984505010110847410, 110850889-110850920, 110864221-110864226, 110864229-110864239
106F7130.519101123595516421335113760156, 113760169-113760214, 113765028, 113765031, 113765049, 113765055, 113765072-113765093, 113765102-113765136, 113765155-113765156, 113768078-113768090, 113768209, 113768212, 113768236-113768261, 113768272-113768274, 113769974-113769981, 113769991-113770062, 113770065-113770110, 113771150-113771159, 113771174-113771180, 113771795, 113771847, 113771904-113771910, 113772745, 113772760, 113772770-113772771, 113772775-113772874, 113772907, 113772921, 113772924, 113772958-113772973, 113772978-113772982, 113772988-113773044, 113773054-113773093, 113773104-113773146, 113773171-113773191, 113773228, 113773262-113773278, 113773291-113773297, 113773301-113773322
107F10130.98432174505794231467113777172-113777173, 113777176, 113777219, 113777227-113777236, 113777239, 113798271, 113803600-113803606
108GRK1130.9976359338061541692114325950-114325953
109TEP1140.999873160832061788420856118
110PABPN1140.967426710097723092123790700-23790704, 23790707-23790710, 23790728, 23790862-23790868, 23790956-23790963, 23790972-23790975, 23791018
111MYH6140.998969072164956582023863303, 23863306-23863310
112PCK2140.997399895995845192324572447-24572448, 24572451-24572453
113TGM1140.996740016299928245424723483, 24724371, 24724420, 24724434, 24731453-24731455, 24731471
114FOXG1140.83605442176871241147029236624-29236626, 29236662, 29236666, 29236683-29236686, 29236689-29236702, 29236708-29236710, 29236713, 29236747-29236960
115C14orf104140.999204455051712251450092369, 50092681
116SYNE2140.9997587338351752072464483331, 64483334, 64484322, 64488130, 64497930
117AMN140.289280469897219681362103389033, 103389051-103389052, 103389056-103389061, 103389064-103389066, 103390060-103390103, 103390114, 103390134, 103390283, 103390291-103390294, 103394819-103394843, 103395097-103395099, 103395108-103395140, 103395153-103395173, 103395188-103395292, 103395310-103395312, 103395458-103395544, 103395553-103395572, 103395575, 103395577-103395595, 103395765, 103395773-103395782, 103395791, 103395802-103395820, 103395832, 103395844-103395871, 103395992-103396004, 103396031-103396059, 103396263, 103396266-103396372, 103396384-103396388, 103396395-103396423, 103396502-103396664, 103396743-103396830, 103396913-103396932, 103396945-103397017
118INF2140.757866666666679083750105167757-105167763, 105167827-105167828, 105167841-105167876, 105167915-105167927, 105167932-105167940, 105167974-105167993, 105169461-105169462, 105169467-105169470, 105169648-105169650, 105169756-105169791, 105170264-105170286, 105172392, 105172407, 105173287-105173293, 105173354-105173361, 105173645-105173667, 105173679-105173721, 105173732-105173733, 105173745, 105173756-105173804, 105173811-105173814, 105173833, 105173855-105174191, 105174205-105174239, 105174261, 105174266-105174268, 105174291-105174292, 105174297-105174309, 105174320-105174339, 105174824, 105174845, 105174850-105174861, 105174892-105174906, 105175619, 105176023-105176033, 105176458-105176460, 105176519, 105177323, 105177416-105177421, 105177444, 105177456, 105177493-105177513, 105178001-105178008, 105178024-105178036, 105178783, 105179247-105179284, 105179307-105179316, 105179605-105179612, 105179782-105179785, 105179803-105179835, 105180559, 105180562, 105180565, 105180702-105180706, 105180848, 105181061, 105181086, 105181178
119NIPA1150.8202020202020217899023086234-23086411
120UBE3A150.9920091324200921262825615777-25615783, 25616251-25616257, 25616620-25616626
121IVD150.99843871975022128140698033-40698034
122CHST14150.9699381078691434113140763414-40763417, 40763523-40763552
123STRC150.9864864864864972532843892246-43892252, 43897496-43897502, 43905035-43905041, 43910437-43910443, 43910863-43910906
124FBN1150.999187558031577861648725094-48725100
125CEP152150.998992950654585496549061188-49061190, 49061224, 49076244
126TPM1150.99766081871345285563335996-63335997
127CLN6150.99358974358974693668500487-68500490, 68500493-68500494
128HCN4150.9864341085271349361273614895, 73660133-73660138, 73660156-73660157, 73660228-73660232, 73660235, 73660239, 73660330-73660337, 73660434-73660458
129PSTPIP1150.0815347721822541149125177310489-77310542, 77310555-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317886, 77317893-77317945, 77320193-77320218, 77320231, 77320255, 77320895-77320973, 77320978-77320993, 77321870-77321890, 77321900-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
130FANCI150.998244293955357398789836175-89836181
131POLG150.99919354838713372089876828-89876830
132MESP2150.999162479061981119490320149
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134HBZ160.904428904428941429204042-204074, 204282-204288, 204293
135GNPTG160.9989106753812619181402246
136CLCN7160.8957816377171225224181496643-1496650, 1496654, 1496681, 1496686, 1497059-1497087, 1497393-1497396, 1497422-1497425, 1497442-1497446, 1497465-1497508, 1497522-1497526, 1497532, 1497537, 1497552-1497555, 1497661-1497687, 1498378, 1498456, 1498463, 1498476-1498485, 1498682-1498687, 1498718-1498720, 1498997-1499021, 1499285-1499288, 1499323-1499328, 1500518-1500519, 1500572-1500582, 1500606-1500632, 1500648-1500663, 1502791, 1502846, 1502894, 1506162
137IGFALS160.8136645962732936019321840601-1840620, 1840642-1840676, 1840754-1840759, 1840818-1840824, 1840866-1840868, 1840888-1840891, 1840953-1840974, 1840989-1840997, 1841009-1841012, 1841015, 1841018-1841024, 1841031-1841034, 1841043, 1841052-1841056, 1841067-1841072, 1841092, 1841097, 1841106-1841117, 1841149-1841181, 1841214-1841220, 1841294-1841304, 1841390, 1841463-1841469, 1841538-1841590, 1841790-1841796, 1841843-1841847, 1841895-1841910, 1841946-1841979, 1842054-1842077, 1842271-1842283, 1842286
138GFER160.760517799352751486182034236-2034238, 2034309-2034314, 2034340-2034448, 2034457-2034475, 2034792-2034798, 2034876, 2034895, 2035922, 2035965
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140PKD1160.02416356877323412600129122139728-2139937, 2139944-2140095, 2140111-2140195, 2140286-2140344, 2140350-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142510, 2142521-2142593, 2142955-2143037, 2143043-2143079, 2143087-2143094, 2143548-2143550, 2143562-2143600, 2143625-2143664, 2143678-2143726, 2143734-2143739, 2143812-2143879, 2143912-2143914, 2143918-2143964, 2143973-2143974, 2143998-2144001, 2144004-2144014, 2144097, 2144100-2144108, 2144128, 2144131, 2144134-2144145, 2144173-2144208, 2147149-2147242, 2147320-2147504, 2147741-2147778, 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, 2185529, 2185532-2185537, 2185540-2185541, 2185549-2185690
141ABCA3160.997653958944281251152342153, 2342185, 2347800-2347806, 2348528, 2354136-2354137
142MEFV160.99957374254049123463296526
143CREBBP160.998089780324741473293778448, 3778452-3778454, 3778913-3778919, 3778983, 3779409, 3819221
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283CFC120.9642857142857124672131279681, 131280371-131280392, 131280809
284NEB20.999098828477021819974152402512, 152432748-152432754, 152432793-152432802
285CACNB420.9993602047344811563152728951
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467GPT80.403085177733078901491145729727, 145729739-145729754, 145729762, 145729793, 145730175-145730181, 145730233, 145730244, 145730392, 145730395-145730398, 145730420-145730465, 145730629-145730641, 145730678-145730709, 145730722-145730765, 145730774-145730815, 145730819-145730824, 145730827, 145730832-145730837, 145730842-145730859, 145731231-145731310, 145731378-145731387, 145731392-145731408, 145731420-145731474, 145731480-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732135, 145732157-145732198, 145732224-145732226, 145732293-145732346
468RECQL480.3881996140060722193627145736814-145736818, 145736833-145736867, 145736880-145736938, 145737064-145737122, 145737153, 145737165-145737172, 145737294-145737389, 145737397-145737450, 145737538-145737546, 145737548-145737551, 145737561-145737569, 145737596-145737614, 145737636-145737647, 145737652, 145737656, 145737665, 145737674-145737678, 145737687-145737707, 145737775-145737806, 145737815-145737926, 145737938, 145737941, 145738025-145738032, 145738037, 145738055-145738070, 145738093-145738154, 145738230-145738521, 145738601-145738612, 145738622-145738768, 145738770-145738864, 145738955-145739007, 145739020, 145739025-145739029, 145739032-145739042, 145739053-145739096, 145739312-145739470, 145739573-145739605, 145739621-145739631, 145739637, 145739678-145739688, 145739826-145739830, 145739846-145739870, 145740327-145740397, 145740427-145740456, 145740544-145740554, 145740580-145740601, 145740605, 145740725-145740736, 145740819-145740841, 145741158-145741196, 145741247-145741274, 145741393, 145741397-145741399, 145741435-145741450, 145741501, 145741512, 145741539-145741544, 145741591-145741608, 145741631-145741632, 145741658-145741732, 145741744, 145741816, 145741819, 145741923-145741963, 145741973-145741988, 145741994, 145742015-145742049, 145742114-145742148, 145742537-145742574, 145742798-145742850, 145742875-145742892, 145742989-145742991, 145742996-145743003, 145743009-145743019, 145743085-145743138, 145743149-145743150, 145743165-145743168
469DOCK890.98698412698413826300404940-404967, 404982-405010, 405013-405014, 407019, 414919, 446603, 452023-452042
470VLDLR90.99542334096111226222622212, 2622218-2622228
471VPS13A90.999895013123361952579908413
472ROR290.999646892655371283294712245
473FANCC90.995229576624938167797897638-97897645
474PTCH190.999769797421731434498270643
475FOXE190.99108734402852101122100616701-100616710
476TGFBR190.9980158730158731512101867538-101867540
477DFNB3190.999632892804712724117169033
478NR5A190.98701298701299181386127245168-127245185
479LMX1B90.9991063449508511119129376862
480STXBP190.9994481236203111812130374719
481ENG90.9989883662114321977130616585-130616586
482TOR1A90.9989989989991999132586363
483POMT190.9986225895316832178134394830-134394832
484SETX90.9998755290017418034135139882
485TSC190.999713876967113495135772997
486CEL90.782474680757384942271135944192-135944198, 135944521-135944527, 135946012-135946018, 135946466-135946468, 135946558-135946900, 135946916-135946934, 135946940-135946986, 135946996-135946997, 135947013-135947015, 135947038-135947074, 135947084-135947102
487SURF190.88372093023256105903136220653-136220657, 136223124-136223169, 136223276-136223329
488ADAMTS1390.831465919701217224284136293754-136293891, 136295060-136295064, 136295068, 136295074-136295076, 136295079, 136295087-136295105, 136295142, 136295153-136295211, 136297768-136297772, 136297805, 136297808, 136298551, 136298557, 136298597-136298628, 136301979-136301996, 136302003-136302010, 136302037, 136302046, 136302053-136302055, 136302058-136302060, 136302922-136302923, 136302933-136302940, 136302974-136302980, 136303448, 136304529-136304530, 136305507-136305515, 136305558, 136305561-136305566, 136305622-136305646, 136307569-136307596, 136307789-136307791, 136307795-136307796, 136307831-136307864, 136308509-136308511, 136308628, 136308631-136308635, 136310026-136310066, 136310820, 136310835, 136310838-136310843, 136310846-136310855, 136310891-136310893, 136310909-136310910, 136313744-136313776, 136313798, 136313839, 136313847-136313848, 136314915-136314937, 136315000, 136315045-136315057, 136315080-136315086, 136319619-136319621, 136319630, 136319650-136319659, 136320479-136320507, 136320601, 136320651, 136320719-136320725, 136321310-136321313, 136321817, 136323040, 136323075, 136323080-136323087, 136323158, 136323190-136323191, 136323195, 136323212, 136324143-136324165, 136324227-136324229, 136324234, 136324238-136324239, 136324266-136324302
489DBH90.928263214670981331854136505007-136505029, 136507504, 136516770-136516793, 136516810-136516838, 136516874-136516885, 136516891-136516899, 136517383-136517385, 136517388-136517392, 136518116-136518119, 136522229, 136522235-136522253, 136522339, 136523529-136523530
490SARDH90.97968806673921562757136535706-136535708, 136535722-136535724, 136535739, 136535744, 136535780, 136535787, 136535824, 136535869-136535874, 136536657-136536666, 136536752, 136536799-136536819, 136550344, 136555610-136555611, 136555647, 136559485-136559487
491COL5A190.967011056733731825517137534040-137534084, 137534092, 137534098, 137534108-137534132, 137582919-137582920, 137582925, 137591802, 137591847-137591881, 137591903-137591909, 137591939, 137593074, 137593142, 137593157-137593160, 137593169, 137642710-137642728, 137644471, 137644475, 137644479, 137645696-137645704, 137646154-137646172, 137671990, 137674542, 137677841-137677844
492LHX390.94210090984285701209139089175, 139089183, 139089339-139089345, 139089399-139089409, 139090544-139090548, 139090841, 139090899, 139090903, 139094796, 139094806-139094832, 139094841-139094847, 139094851, 139094853-139094857, 139094866
493INPP5E90.681136950904396171935139324740, 139325553-139325561, 139326291-139326320, 139326355, 139326383-139326386, 139326413-139326437, 139326932, 139326994-139326997, 139327023, 139327514-139327517, 139327672-139327696, 139327704-139327731, 139328582, 139329201-139329256, 139329297, 139329304, 139333060, 139333064-139333065, 139333111-139333181, 139333184-139333192, 139333208-139333237, 139333259, 139333262-139333264, 139333297, 139333310-139333321, 139333336-139333353, 139333357-139333376, 139333403-139333451, 139333456, 139333469-139333474, 139333479-139333480, 139333483, 139333490, 139333505-139333506, 139333511-139333524, 139333548-139333564, 139333580-139333605, 139333620-139333651, 139333654, 139333723-139333724, 139333727-139333728, 139333731-139333747, 139333757-139333788, 139333798-139333799, 139333805, 139333809-139333827, 139333842-139333871
494NOTCH190.6761867501304124837668139390536-139390537, 139390584-139390596, 139390686, 139390869-139390889, 139390918-139390924, 139390952, 139390961, 139391010, 139391023, 139391209, 139391291, 139391319-139391322, 139391326, 139391329, 139391381-139391407, 139391433-139391461, 139391509-139391517, 139391522-139391523, 139391535-139391549, 139391578-139391580, 139391583, 139391607, 139391624, 139391636, 139391645-139391648, 139391672-139391691, 139391787, 139391830-139391861, 139391880-139391901, 139391943-139392000, 139393586-139393588, 139395023, 139395029, 139395034, 139395046, 139395098-139395124, 139395139-139395140, 139395153-139395157, 139395204-139395252, 139396213-139396217, 139396220-139396221, 139396274, 139396303-139396306, 139396726-139396731, 139396736, 139396861, 139396878, 139396914-139396915, 139396927, 139397705-139397707, 139397716-139397727, 139399153-139399160, 139399203-139399237, 139399295-139399301, 139399389, 139399392, 139399466-139399496, 139399541, 139399766-139399803, 139399835-139399836, 139399849-139399889, 139399937, 139399955, 139399968-139399973, 139400070, 139400076-139400078, 139400089-139400090, 139400121-139400162, 139400208, 139400246-139400259, 139400308-139400333, 139401168-139401182, 139401242, 139401395-139401396, 139401779, 139401814, 139402557-139402582, 139402689-139402737, 139402751-139402757, 139403342, 139403348, 139403351-139403356, 139403359-139403370, 139403399-139403412, 139403447, 139403487-139403490, 139403521-139403523, 139404205, 139404273, 139404412-139404413, 139405135-139405137, 139405152, 139405620, 139405658, 139405661, 139405700, 139407473-139407586, 139407862-139407881, 139407930-139407932, 139407959, 139407981-139407989, 139408991, 139409016, 139409068-139409089, 139409134-139409136, 139409148, 139409749-139409835, 139409935, 139409939-139409950, 139409981-139410039, 139410048-139410071, 139410100-139410144, 139410158-139410161, 139410165-139410168, 139410461-139410471, 139410482, 139410525, 139410536-139410546, 139411724-139411739, 139411766-139411837, 139412222-139412246, 139412253-139412268, 139412271-139412279, 139412290, 139412298-139412330, 139412339-139412386, 139412589-139412622, 139412634-139412668, 139412710-139412744, 139413056-139413058, 139413062-139413083, 139413100-139413165, 139413181-139413215, 139413227-139413249, 139413902-139413943, 139413991-139413993, 139417302-139417495, 139417521-139417640, 139418169-139418264, 139418276-139418431, 139438476-139438493, 139438499-139438554, 139440178-139440238
495AGPAT290.68458781362007264837139568322-139568329, 139568374-139568379, 139569193-139569197, 139571112-139571114, 139571417, 139571450-139571493, 139571884, 139571887-139571901, 139571909, 139571972-139571978, 139581628-139581634, 139581644-139581809
496SLC34A390.779444444444443971800140127050-140127055, 140127471, 140127491, 140127708, 140127841, 140128130-140128134, 140128137-140128145, 140128165-140128174, 140128331-140128355, 140128373-140128380, 140128561-140128645, 140128685-140128686, 140128690-140128697, 140128700-140128702, 140128705, 140128708-140128710, 140128896, 140130414-140130451, 140130465-140130481, 140130496-140130525, 140130548-140130584, 140130672, 140130684-140130687, 140130692, 140130747-140130750, 140130759-140130832, 140130848-140130868
497EHMT190.809597125994357423897140513481-140513482, 140605419-140605482, 140611078-140611634, 140622826-140622828, 140622868-140622871, 140622895-140622981, 140671263-140671282, 140672365, 140674087-140674090
498SHOXX0.78612059158134188879591641-591650, 591665-591668, 591701-591771, 591794-591798, 591845-591874, 595380-595399, 595471-595503, 595521-595525, 595530, 595534, 595551-595553, 595556-595560
499CSF2RAX0.8467432950191620013051401666-1401672, 1404785-1404786, 1409250, 1409319-1409350, 1409353, 1413252, 1413313-1413354, 1419459-1419460, 1419480-1419484, 1419505, 1422154-1422253, 1422816, 1422832, 1422846, 1422849-1422850, 1422868
500FANCBX0.998062015503885258014863379-14863383
501ARXX0.9887507400828919168925031654-25031669, 25031777-25031779
502RPGRX0.83550159005493569345938145058, 38145270-38145271, 38145277-38145305, 38145313-38145314, 38145338-38145689, 38145701-38145723, 38145729-38145745, 38145751, 38145773-38145863, 38145885-38145911, 38145971, 38146022-38146023, 38146137-38146157
503MED12X0.9955616773798629653470360644-70360672
504TAF1X0.998944033790926568270586207-70586212
505SLC16A2X0.999457111834961184273641569
506ATP7AX0.998001332445049450377287028-77287036
507LAMP2X0.9878640776699151236119562349-119562363
508CUL4BX0.9985412107950442742119691806-119691809
509XIAPX0.9979919678714931494123019583-123019585
510SLC6A8X0.894654088050312011908152954030-152954113, 152954141-152954147, 152954153-152954212, 152954223-152954252, 152954257-152954258, 152959470-152959472, 152959994-152960006, 152960591, 152960669
511ABCD1X0.9977658623771252238153008675-153008678, 153008788
512L1CAMX0.9912559618442333774153130110, 153132879-153132889, 153132892, 153136512-153136531
513FLNAX0.99257301107754597944153588100-153588104, 153588236, 153588399-153588405, 153589682, 153589686-153589692, 153594762-153594764, 153594774-153594778, 153596020-153596027, 153599429-153599440, 153599538, 153599579-153599587
514EMDX0.9594771241830131765153608069-153608081, 153609354-153609367, 153609505-153609508
515TAZX0.9252217997465159789153640193-153640219, 153640508-153640539
516G6PDX0.98290598290598281638153760215-153760240, 153760791, 153761273
517F8X0.9994331065759647056154158810-154158813
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
3APOE-C130Rhet unknown0.135Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
3COL4A1-Q1334Hhomozygous0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-R46Lhet unknown0.010Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-V730Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ELAC2-S217Lhomozygous0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-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
2IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-T244Ihomozygous0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ALAD-K59Nhet unknown0.059Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5SFTPA1-R219Whet unknown0.085Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5XYLT1-A115Shet unknown0.017Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
1.5OPTN-M98Khet unknown0.061Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
1.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5PRF1-A91Vhet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125ATP6V0A4-M580Thet unknown0.098Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MADD-R766*homozygous0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
1B3GNT6-A191Thomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.183Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-T425Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GATSL1-N17KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PLAC4-L104ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
1PTCHD3-C407Ghomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1PTCHD3-S309Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COL6A2-E106Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
1COL6A2-R680Hhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KCP-P1126Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1DSE-T25Ihomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
1DSE-P34Lhomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-D423Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1SLX4-S1271Fhomozygous0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.679 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107RRRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1PCDHB16-R202Qhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
1PCDHB16-T482Ihomozygous0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1PCDHB16-R652Chomozygous0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
1HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-V2786Ihomozygous0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PKP2-S70Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, 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
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CASR-R990Ghet unknown0.064Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
1CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-G550GYGGGSSGGGhet 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
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT5-D197Ehomozygous0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1F5-M2148Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D107Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MATN3-E252Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RALGAPA2-E189Ghomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1MTHFR-R594Qhet unknown0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1FRMD7-S281Lhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PHKA2-I693VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF81-A3VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1P2RY4-W348*homozygous0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1P2RY4-S234Ahomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1P2RY4-N178Thomozygous0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GSTM1-K173Nhomozygous0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP7A-V767Lhomozygous0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-V357V*homozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-A69Ghet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FUT6-R303Ghet unknown0.074Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.725 (possibly damaging)
0.75FUT6-P124Shet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thomozygous0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625LAMA3-S2078Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ITGB4-F201Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH2A-V4391Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.625USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNJ12-S15Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5KCNJ12-M71Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-E139Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5KCNJ12-T142Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-E239Khet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R261Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.837 (possibly damaging)
0.5KCNJ12-I262Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S371Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5DL492456-R148Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-W104*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PER1-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)
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPATCH8-C1161Whet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5LRP1B-G3615Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5LRP1B-Q3140Rhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAP2K3-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)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-A4025Thet unknown0.190Unknown
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-V3898Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-R3810Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-T3115Rhet unknown0.316Unknown
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-K2522REEAERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T2520Lhet unknown0.017Unknown
not reviewed
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-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (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)
0.5WSCD1-T301Ihet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PHKB-Y770Chet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.479 (possibly damaging), Testable gene in GeneTests
0.5NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOD2-L1007Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN1A-E1297Dhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SRRM2-P804Thomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SRRM2-T2420Ihet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ZSCAN10-L654Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRC50-D387Ehet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5NQO1-P187Shomozygous0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC4A5-H253Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RFXANK-E48Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5THAP8-R189Whet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5THAP8-R185Qhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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)
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2B4-R326Ghet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC25-C285Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ICAM1-G241Rhet unknown0.075Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNASEH2A-L202Shet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC13A-L1121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), 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
0.5CYP2B6-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
0.5ZNF880-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
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-R190Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), 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-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5TGFB1-P10Lhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF230-H53Yhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-R438Hhet unknownUnknown
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
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MERTK-R293Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-V870Ihet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNC3-D63Ghomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIF19-R807Hhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.713 (possibly damaging)
0.5KIF19-R891Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TTL-A133Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EME1-F63Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EME1-E69Dhomozygous0.922Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EME1-K137KQhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NACA2-V9Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-S61Ahomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-E582EEhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MIER2-P464Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.569 (possibly damaging)
0.5PRR22-P182Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-A642Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FSHR-S680Nhomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSC3-R102Khomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5PDIA2-Q195*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PDIA2-G352Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDIA2-N493Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLAU-V15Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLAU-L141Phomozygous0.842Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS1-G283Whet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKR1C3-E77Ghet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKR1C3-P180Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-G3114Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHAT-L243Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5YIF1A-P37Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RIN1-R238Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5AHNAK-G5242Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK160367-D257Ehomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-M356Vhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-V377Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), 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-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPATCH2-M474Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5A3GALT2-T106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GJB4-V52Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5LEPRE1-Q644Khet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5TMEM61-E40Khet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK2-A209Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPHP4-R740Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PLOD1-A99Thomozygous0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLOD1-A120Shomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-G109Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V4332Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R3632Qhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A3168Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-S2995Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-L2980Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-G2225Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V1967Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A439Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-D586Hhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRIQ3-A558Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-M129Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.819 (possibly damaging)
0.5FMO3-E158Khomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TOR1AIP1-Q293Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5PTPN7-R37Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP21-P91Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging)
0.5DARC-G42Dhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DARC-R89Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DARC-A100Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-N45Dhomozygous0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-D47Nhomozygous0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CHIA-R61Mhomozygous0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-I339Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-F354Shomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CHIA-F377Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CHIA-V432Ghomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PPM1J-I291Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PPM1J-V236Ihomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VANGL1-A116Thomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5PGLYRP4-G192Vhomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PGLYRP4-Q92Rhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.719 (possibly damaging)
0.5PGLYRP4-I13Lhomozygous0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM45-M496Thomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM45-G436Ehet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TRIM45-G433Dhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5TRIM45-C375Yhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TYR-T373Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM64-R162Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q358Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q405Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SYNE2-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-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
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-M942Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-T898Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MDP1-G153Whet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEP1-H2562Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1772Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1155Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shomozygous0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1A1-I462Vhet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.488 (possibly damaging)
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP13-G191Rhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5AKAP13-M452Thet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5AKAP13-W494Rhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP13-R574Chet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AKAP13-E689Khet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP13-V845Ahet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP13-V897Mhet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.264 (possibly damaging)
0.5AKAP13-P1062Ahet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.5AKAP13-D1086Nhet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP13-M1216Thet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SERPINA12-R211*het unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-A728Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-D1472Hhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5COL2A1-V1331Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-E142Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5WNK1-A141Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HYLS1-C31Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5TRPC6-A404Vhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG9-V289Ihomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ANKK1-G318Rhomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5ANKK1-H367Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANKK1-H490Rhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DLAT-A43Vhomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-V318Ahomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-D451Nhomozygous0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1A-D34Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1A-G40Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1A-W137Rhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PABPC3-Q172Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-E178Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PABPC3-A181Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5PABPC3-M251Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-K254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-R287Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Q292*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PABPC3-V293Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-L564Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-M568Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-L588Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Y590Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-L592Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NUPL1-A34Thet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUPL1-S166Phet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.514 (possibly damaging)
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCP1-K533Ehomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCP1-A40Vhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCARB1-V135Ihet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign)
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5DDX55-V101Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5DDX55-N264Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5KRT6B-I365Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-K245Nhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LILRA1-V387Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ATP10D-R51Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATP10D-N720Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-G-L134Ihet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5HLA-G-T282Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C2-G25Dhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-Y205Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MRPL22-G154Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.982 (probably damaging)
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HK3-G246Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CFB-R534Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFB-R534Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CRISP2-C196Rhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
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
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), 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
0.5RSPH4A-N627Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-P939Qhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-QS152HAhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R3209Ghet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2846Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2704Hhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2597Qhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2495Shet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2412Lhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S921Ahet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q256Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D89Vhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A70Vhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
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
0.5USP49-D636Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PDE6A-H655Yhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.433Unknown
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
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FNIP2-T298Shet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.021 (benign)
0.5FNIP2-S551Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGPAT9-R386Khet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5AASDH-Y1030Dhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AASDH-T865Ahet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5AASDH-A747Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AASDH-R223Lhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BMP3-Y67Nhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5BMP3-L205Fhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.17 (benign)
0.5AMBN-L354Phet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging)
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDZD2-D6Nhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5PDZD2-Q1258Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.421 (possibly damaging)
0.5PDZD2-T1274Ahet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PDZD2-A1649Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMXL1-V2067Mhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5DMXL1-T2107Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghet unknown0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NNT-K63Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5NNT-L663Fhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.809 (possibly damaging)
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GFM2-R744Ghet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GFM2-FE609Delhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HIVEP2-L1538Phomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HIVEP2-Y1242Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HIVEP2-E81Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5STX11-V267Mhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZCCHC6-K937DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZCCHC6-R560Qhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5SVEP1-A2750Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-E1810Ahet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SVEP1-L1648Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-V507Ihet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5SVEP1-R229Ghet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-P85Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1L1-T1349Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PKHD1L1-D3437Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.78 (possibly damaging)
0.5GSDMC-M475Thet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ZC3H3-P857Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5PLEC-G3458Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A3171Vhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R2969Hhomozygous0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R2821Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-S2791Phomozygous0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A2194Vhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM83H-S788Nhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5FAM83H-Q201Hhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), 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
0.5ARRDC1-N287Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARRDC1-G363Chet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.177 (benign)
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
0.5CEP110-V56Ihomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CEP110-L954Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-P155Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SARDH-M648Vhomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SARDH-R614Hhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-M25Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-A13Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BRD3-K435Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.897 (probably damaging)
0.5GRHL2-K9Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A7-L349Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5HGF-E304Khet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), 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
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A8168Shet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R356WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-N302Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R215Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-F185Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RRS1-R191Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
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-C234Whet unknown0.880Unknown
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
0.5PCM1-N159Shomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-M597Vhomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCM1-R1251Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF212-E3Dhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.33 (possibly damaging)
0.5ZNF212-H293Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging)
0.5MLL3-N942Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MLL3-E674Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NINL-R1276Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-WE958Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5LMOD3-P552Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5KBTBD8-F179Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5WFDC3-R63Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5ZNF654-I294Thomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5ZNF654-S374Ahet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5STK36-K295Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5STK36-R477Whet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STK36-R583Qhomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-G1003Dhet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5STK36-R1112Qhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.124 (benign)
0.5CXCR1-R335Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1217Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5TCN2-F89Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-R259Phet unknown0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-S348Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-R399Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5RETNLB-P20Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIAA2018-V2200Ahomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA2018-S1818Ghet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5IQCF1-R114Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5UBA7-R878Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UBA7-P712Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-WPA82RPGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPT1B-E531Khet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.303 (possibly damaging)
0.5CPT1B-S427Chet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPT1B-G320Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CPT1B-I66Vhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-H1300Rhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhomozygous0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM43-K168Nhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TGM4-Y244Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5TGM4-R372Chet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.419 (possibly damaging)
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EOMES-Q6Ehet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5TTC3-M840Thomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-D1751Hhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGXT-I340Mhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SSFA2-P836Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSTN-K153Rhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAJC10-D76Nhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DNAJC10-M517Lhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAJC10-H646Qhomozygous0.699Unknown
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
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2B5-I587Vhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CASP8-M1Thet unknown0.031Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGFBP5-R138Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5CCDC50-L121Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-I258Nhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-K303Rhet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-M332Thet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-R466Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP10-L522Ihomozygous0.439Unknown
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
0.5TF-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
0.5N4BP2-D611Nhet unknown0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5N4BP2-G1737Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-T1417Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375GSTP1-I105Vhet unknown0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.375NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375NLRP7-QL310RIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ATXN3-G306QQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC34A3-E513Vhet unknown0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC34A3-E513Vhet unknown0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF224-M118Vhet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL16A1-T572Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL16A1-T62Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
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
0.25LRP2-N1797Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25COL9A3-A435Ehet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25RNF207-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)
0.25AKR7L-A254Thet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKR7L-C185Yhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKR7L-A75Dhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AKR7L-M23Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25AKAP9-K2484Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AKAP9-T3469Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.25SLC35C1-I227Vhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM185A-G60Ahomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM185A-S252Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM185A-R347Chet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C1orf167-W59RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-R77Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-S125Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-A151Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-W232RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-V449Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-R492Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-C572Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-R728GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf167-W733Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25COL6A1-S890Lhet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG3-P407Lhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC13A1-N174Shet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC13A1-R12*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25IFNA10-L112Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.25IFNA10-G33Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25IFNA10-S31Thet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.186 (benign)
0.25IFNA10-C20*het unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA0020-R289Phet unknown0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA0020-R203*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FLG-E3593Dhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.022 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25COL11A1-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
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25KIF27-H1334Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIF27-N1036Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25KIF27-I213Vhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FMO2-F182Shet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF4-P183Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNFRSF4-T174Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), 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
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ANKFN1-V301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKFN1-V445Ihomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.25TOPBP1-K1266Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TOPBP1-K457Qhet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TOPBP1-R309Chet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.928 (probably damaging)
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25L2HGDH-E268Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25L2HGDH-L18Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25RPAP1-E506Khet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.906 (probably damaging)
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALPK3-S550Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALPK3-P1299Lhet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MINK1-Q380*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MINK1-V771Ahet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MINK1-P775Lhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CDT1-R13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDT1-C234Rhomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC12-R1117Chet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC12-W1024*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CRIPAK-P64Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CRIPAK-WSV216RSAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027242-C222Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25ACAN-R275Qhet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACAN-A505Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACAN-S930Ihet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACAN-S939Thet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACAN-E1508Ahet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACAN-I1765Vhet unknown0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACAN-I2079Vhet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF598-A900Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF598-E17Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF598-E17Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF598-G6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SDHA-V657Ihet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (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
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRTAP2-4-CRPPC109DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRTAP2-4-W94*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KRTAP2-4-L10Fhomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-R2326Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1873Vhomozygous0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-S1517Ghomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-R1515Whomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1451Thomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1361Vhomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q1325Ehomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1263Vhomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SCNN1A-T722Ahomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCNN1A-R240Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCF20-M405Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.25TCF20-G56GSGSGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALDH3B2-H361Rhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH3B2-S220Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH3B2-H203Rhomozygous0.935Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH3B2-S52Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH3B2-P5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-A52Shet unknown0.210Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALPK2-R1694Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ALPK2-A1551Shet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25ALPK2-P1449Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25ALPK2-H1174Phomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25ALPK2-L1057Vhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.25ALPK2-EDTST1006Delhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALPK2-N916Khet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALPK2-K829Nhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.25ALPK2-R825Thet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALPK2-G810Shet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.25ALPK2-H719Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25ALPK2-F683Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALPK2-R136Shet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALPK2-K2Thet unknown0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25IRS2-G1057Dhet unknown0.233Unknown
protective
Low clinical importance,
uncertain
a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25C18orf56-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C18orf56-Y26*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_015394-K114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25CDSN-N527Dhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KISS1R-L364Hhet unknown0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25PSORS1C1-P24Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PSORS1C1-H40Shifthet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PSORS1C1-P133Lhet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0DSC2-A897Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HRAS-P34Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,764,727,342 bases (96.7% of callable positions, 89.8% of total positions)

Coding region coverage: 32,327,141 bases (97.1% of all genes, 97.8% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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