huC30901 - GET-Evidence variant report

Variant report for huC30901

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CFH-Q950HHighUncertainUncertain pathogenic

Dominant, Heterozygous
0.00436884This rare variant was found heterozygously (presumed acting in a dominant manner) in a single sporadic case of atypical hemolytic-uremic syndrome — a potentially lethal medical emergency, usually occurring in childhood. Although predicted to be disruptive, observations of the variant lack statistical significance.1
2RP1-T373IHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0119003Reported to cause recessive retinitis pigmentosa in some Pakistani families. Because it is unclear whether these families have some common ancestry, and because there may be an uncharacterized linked variant, this pathogenic effect of this variant is considered uncertain.1
3PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
4FLG-S761ShiftModerateUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.00793651Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. Some authors report the variant has incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale.1
5SLC4A1-E40KModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0118052Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect.1
6TGM1-Y312ShiftModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0078125No known reports, but predicted to be highly disruptive and cause congenital ichthyosis in a recessive manner.1
7BTD-D444HLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0298383This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.1
8COL4A1-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
9rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
10CETP-A390PLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0388548This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl).1
11AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
12RNASEL-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
13ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
14TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
15H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
16ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
17SP110-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
18CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
19TPMT-Y240CLowWell-establishedWell-established pharmacogenetic

Complex/Other, Heterozygous
0.0461825Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
20TPMT-A154TLowLikelyLikely pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0280774Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
21rs1544410LowUncertainUncertain 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
22NPC1-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
23DTNBP1-P272SLowUncertainUncertain protective

Recessive, Carrier (Heterozygous)
0.0351366Possibly a slight protective effect against colorectal cancer if homozygous.1
24LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
25COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
26ADA-K80RLowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0635806This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.1
27PKHD1-I3905NLowLikelyLikely benign

Unknown, Heterozygous
0.048615Presumed benign, allele frequency contradicts severe pathogenic effect.1
28CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
29PKHD1-V3960ILowLikelyLikely benign

Unknown, Heterozygous
0.0128277Probably benign, reported as a nonpathogenic polymorphism found in controls.1
30KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.1
31MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
32RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
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
33ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
34BRCA1-Q356RLowUncertainUncertain benign

Unknown, Homozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
35EDAR-V370ALowUncertainUncertain benign

Unknown, Heterozygous
0.0105968Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific.1
36RELN-G1280ELowUncertainUncertain benign

Unknown, Heterozygous
0.0112474Probably benign.1
37APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
38AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
39NDRG1-H41RLowUncertainUncertain benign

Unknown, Heterozygous
0.000743632Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause Charcot-Marie-Tooth disease type 4 in a recessive manner.1
40VWF-G2705RLowUncertainUncertain benign

Unknown, Heterozygous
0.0460123Probably benign, seems to be considered an uncommon polymorphism.1
41F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
42ATM-V2079ILowUncertainUncertain benign

Unknown, Heterozygous
0.00641383Probably benign.1
43GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
0.0716676This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).1
44NTRK1-H604YLowUncertainUncertain benign

Unknown, Heterozygous
0.0431307Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.1
45SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
46NTRK1-G613VLowUncertainUncertain benign

Unknown, Heterozygous
0.0429448Also called G607V, this variant has been reported as a nonpathogenic polymorphism.1
47PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
48TAS2R38-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
49TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
50PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
51USH2A-V230MLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0157092This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).1
52TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
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
53TERT-A279TLowUncertainUncertain benign

Unknown, Heterozygous
0.0200037Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita.1
54F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31793152 / 33282720 = 95.52%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.7942326490713612636138955553-955753, 957707-957708, 976062-976069, 976086, 976089-976106, 976128-976130, 976149, 976153-976154, 976164-976175, 976198-976206, 976212-976260, 976553-976745, 976759, 976762, 976769-976772, 976858-976859, 976865-976895, 976914-976917, 976938-976943, 977056-977082, 977490-977516, 977522-977524, 978694-978701, 978707-978717, 979039-979045, 979386-979392, 979401-979403, 981582-981583, 981777-981779, 981795-981803, 981811-981821, 981836-981846, 981856-981924, 981931-981935, 981945-982033, 982086-982092, 982230, 982249, 982325-982337, 983400-983402, 983407, 983416-983420, 983424, 983434-983435, 983470-983512, 983541-983547, 983561-983745, 984281, 984323-984362, 984431, 985017-985019, 985116, 985165, 985173, 985382-985388, 985410, 985649-985652, 985679-985681, 985847, 986190-986196, 986636, 986658-986692, 986833-986841, 986845-986855, 986870-986871, 986888-986889, 986898-986901, 986954-986970, 990280, 990283
2GABRD10.930095658572489513591950863-1950930, 1957037, 1961003-1961005, 1961011, 1961050-1961051, 1961186-1961191, 1961508-1961511, 1961540, 1961544, 1961549-1961550, 1961583-1961588
3PEX1010.852191641182471459812337936-2337946, 2338205-2338206, 2340006-2340016, 2340021-2340023, 2340028-2340029, 2340034, 2340039, 2340116, 2340161, 2340168-2340169, 2340194, 2340200-2340202, 2340209, 2340212, 2340216-2340218, 2343835-2343866, 2343873-2343941
4NPHP410.991357159542163742815925240, 5925244-5925246, 5925253-5925254, 5934958-5934959, 5935094-5935095, 5935106-5935107, 5935134-5935141, 5935148, 5937228-5937232, 5937245-5937255
5ESPN10.5906432748538105025656485016-6485293, 6488301-6488336, 6488378-6488384, 6488426-6488432, 6488479, 6500399-6500437, 6500451-6500462, 6500480, 6500483-6500486, 6500686-6500868, 6501028, 6501031-6501032, 6501035-6501038, 6505724-6505732, 6505840-6505920, 6505931-6505937, 6508701-6508739, 6508746-6508754, 6508762-6508767, 6508784-6508785, 6508794-6508805, 6508812-6508846, 6508848-6508849, 6508853-6508861, 6508876-6509109, 6509126-6509132, 6511801-6511808, 6511970-6511976, 6512127-6512133, 6520149
6PLEKHG510.8930699278770834131896527923-6527925, 6529448-6529450, 6530613, 6530806-6530807, 6530810, 6530817, 6530820, 6530833, 6530836, 6530869-6530874, 6530879, 6530898, 6530910, 6531590, 6531596-6531597, 6531607, 6531641, 6532652, 6532660, 6532663, 6533152, 6533156-6533159, 6533407-6533411, 6533414-6533417, 6534073-6534224, 6534511-6534647, 6537683-6537685, 6557380-6557383
7KIF1B10.9928477319781738531310327496-10327503, 10356997, 10357013, 10357016, 10357019-10357030, 10357035-10357046, 10425584-10425585, 10425596
8PEX1410.9664902998236338113410535030, 10684442-10684450, 10684453-10684455, 10684478-10684481, 10689672-10689675, 10689997-10690013
9MASP210.998544395924313206111105499, 11106765-11106766
10MTHFR10.9913749365804217197111853983-11853998, 11863120
11PLOD110.9826007326007338218411994837-11994840, 11994854-11994856, 11994859-11994868, 11994872-11994887, 11994890-11994894
12CTRC10.99256505576208680715771129-15771131, 15771137-15771139
13CLCNKA10.9520348837209399206416353031-16353039, 16353047, 16353049-16353051, 16353058-16353062, 16353068-16353069, 16353077-16353085, 16353094, 16353226-16353270, 16353846-16353852, 16356988, 16357065, 16357144-16357150, 16358271, 16358699-16358705
14CLCNKB10.9854651162790730206416371067, 16374898, 16375055-16375057, 16375073-16375075, 16375615-16375622, 16378725, 16378881-16378887, 16382970-16382975
15ATP13A210.96951735817104108354317313042, 17313316, 17313319-17313326, 17313329, 17313335-17313355, 17313563-17313575, 17313593-17313631, 17313652, 17313654, 17313670-17313675, 17320285-17320287, 17322617-17322620, 17322631-17322635, 17323648, 17323651, 17326578, 17332051
16ALDH4A110.9917257683215114169219200964-19200965, 19200969, 19200976-19200977, 19200980, 19202917-19202919, 19204070, 19204079, 19204082, 19211990, 19229007
17PINK110.77835051546392387174620960042-20960428
18ALPL10.997460317460324157521890585, 21903940-21903942
19HSPG210.985655737704921891317622149852, 22165399-22165406, 22165420-22165421, 22165437-22165440, 22165444, 22165951, 22165954, 22170720, 22170723, 22175386, 22181115, 22181119, 22181132, 22181411-22181453, 22181470, 22181934-22181935, 22182037, 22182040, 22182043, 22182054, 22191405-22191407, 22191454, 22191795, 22198848, 22199114-22199123, 22199130-22199148, 22199527-22199529, 22202512-22202514, 22205083, 22207000-22207006, 22211127-22211129, 22263648-22263710
20WNT410.9195075757575885105622446734-22446740, 22446938, 22469339-22469415
21GALE10.9904489016236910104724122649, 24122658-24122665, 24122676
22HMGCL10.99897750511247197824134787
23FUCA110.9635974304068551140124194425-24194444, 24194452-24194457, 24194459, 24194468-24194470, 24194474, 24194488, 24194494-24194499, 24194628-24194639, 24194746
24LDLRAP110.903991370010798992725870190-25870277, 25890249
25SEPN110.89028776978417183166826126722-26126904
26HPCA10.920962199312714658233359397-33359407, 33359416-33359450
27GJB310.99138991389914781335251080-35251086
28COL9A210.9623188405797178207040768389-40768391, 40768394, 40768397-40768398, 40768401-40768403, 40768407, 40769257, 40769487-40769511, 40773406, 40777355-40777358, 40777361, 40781305, 40782795, 40782802-40782803, 40782838-40782869
29KCNQ410.77298850574713474208841249766-41250013, 41250052, 41283899, 41284187-41284352, 41285104-41285110, 41285114, 41285120, 41285125, 41289901-41289906, 41303991-41304028, 41304041-41304043, 41304133
30CLDN1910.962962962962962567543201557-43201581
31LEPRE110.9127091813659193221143232243-43232251, 43232258, 43232262-43232272, 43232281, 43232328, 43232342, 43232346-43232354, 43232360-43232363, 43232369, 43232376, 43232399-43232512, 43232591-43232598, 43232611-43232642
32SLC2A110.9871534820824919147943395285, 43424305-43424322
33MPL10.953878406708688190843814534-43814540, 43814543-43814544, 43814934-43815012
34MUTYH10.99553855959217156945797963-45797966, 45797969-45797971
35STIL10.999482803206622386747748119, 47765644
36ORC110.9918793503480321258652838935, 52851545-52851547, 52851551, 52851555, 52851561-52851574, 52851581
37DHCR2410.84784010315925236155155340778, 55340793, 55340803, 55341710-55341711, 55352562-55352792
38BSND10.99896157840083196355464865
39PCSK910.93650793650794132207955505544, 55505550, 55505553-55505557, 55505568-55505577, 55505587-55505590, 55505595, 55505598-55505599, 55509581-55509598, 55521688-55521689, 55521712-55521741, 55521750-55521794, 55524274, 55529187-55529192, 55529213-55529218
40ALG610.9928104575163411153063881580-63881583, 63881589-63881595
41LEPR10.998284734133796349866036466, 66036469, 66083739-66083742
42RPE6510.996254681647946160268914384-68914389
43RPL510.99888143176734189493300379
44ABCA410.9957490472002329682294461680-94461694, 94461700-94461706, 94461713-94461717, 94497463, 94497493
45COL11A110.97049660985891615457103364222-103364223, 103364243-103364257, 103364263, 103364268-103364273, 103364275-103364288, 103364291-103364315, 103364497-103364514, 103364541-103364542, 103379913, 103380302, 103380305, 103380310, 103412454-103412457, 103412471, 103427424-103427431, 103427434, 103435777-103435787, 103440424, 103440433, 103440436, 103471640-103471643, 103471646-103471647, 103471837-103471841, 103471850-103471852, 103471855, 103471858-103471863, 103481281-103481298, 103548497, 103548510-103548512, 103548520, 103548526-103548527
46GSTM110.998477929984781657110235888
47NGF10.9848484848484811726115828702-115828712
48CASQ210.997531200116244024, 116244034-116244035
49HMGCS210.9993451211525911527120299910
50NOTCH210.974649406688241887416120539668, 120539687, 120539691, 120539711, 120539739-120539745, 120539778-120539784, 120539913-120539955, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611957-120611968, 120611983-120612010, 120612017-120612020
51HFE210.999219359875111281145415414
52FLG10.996553421959634212186152278399-152278437, 152279020-152279021, 152283103
53CHRNB210.98011928429423301509154540526-154540533, 154544381-154544382, 154544385-154544390, 154544395, 154544399-154544407, 154544410-154544411, 154544414, 154544419
54GBA10.99130974549969141611155205040-155205046, 155208418-155208424
55PKLR10.98840579710145201725155264351, 155269975-155269981, 155269990-155269991, 155269994, 155270005-155270009, 155270020-155270023
56LMNA10.9135802469135849567156105032-156105065, 156105077-156105091
57LMNA10.95689223057644861995156084710-156084713, 156084727-156084752, 156084767, 156105032-156105065, 156105077-156105091, 156108320-156108321, 156108324-156108326, 156108351
58SEMA4A10.9978127734033252286156124438, 156131206, 156131210, 156131215, 156131218
59NTRK110.940610623170221422391156830727-156830857, 156843449-156843452, 156843609-156843615
60ATP1A210.9980411361410463063160085658-160085663
61MPZ10.9729729729729721777161275736-161275737, 161275901, 161275904, 161275906-161275908, 161275911-161275914, 161279629-161279631, 161279646-161279648, 161279660, 161279670, 161279681-161279682
62SLC19A210.9993306559571611494169454966
63F510.99101123595506606675169497294-169497311, 169510348, 169510367, 169510380, 169510465-169510486, 169510502, 169510515, 169510524, 169510634-169510640, 169511596-169511602
64MYOC10.998019801980231515171605363, 171621172-171621173
65FASLG10.995271867612294846172628350, 172628394-172628396
66NPHS210.92100694444444911152179544818, 179544821-179544822, 179544849-179544864, 179544869, 179544871, 179544875, 179544887, 179544890, 179544898, 179544911-179544915, 179544921-179544979, 179544983, 179544986
67LHX410.98976982097187121173180199665-180199673, 180199677-180199678, 180199685
68RNASEL10.9982030548068342226182555119-182555120, 182555135, 182555153
69LAMC210.9988833054159743582183155488, 183155492-183155493, 183155502
70HMCN110.99958599479536716908185947107-185947113
71PDC10.998650472334681741186418576
72CDC7310.9993734335839611596193111034
73CFH10.98809523809524443696196658694-196658734, 196658743-196658744, 196706732
74CFHR110.998992950654581993196797357
75CFHR510.9970760233918151710196963266, 196963270, 196963316, 196977759, 196977762
76ASPM10.997316465401572810434197065259, 197104229-197104232, 197115275-197115280, 197115282-197115284, 197115286-197115287, 197115300, 197115499-197115509
77CACNA1S10.9928850942725405622201009382-201009385, 201009801-201009810, 201009833-201009838, 201023670-201023677, 201038625-201038631, 201038652-201038655, 201047075
78PKP110.9995414947271912181201286771
79CD4610.9966666666666741200207943668-207943670, 207943681
80LAMB310.9991474850809933519209796345, 209796365-209796366
81RD310.998299319727891588211654722
82USH2A10.99961560638093615609215916519, 216061856, 216595464-216595467
83LBR10.98484848484848281848225592347-225592374
84ADCK310.98456790123457301944227152916, 227152920, 227171795-227171809, 227171922-227171927, 227171930-227171936
85GJC210.2424242424242410001320228345466-228345470, 228345479-228345866, 228345873-228345889, 228345897-228345901, 228345907, 228345910-228345916, 228345926, 228345938, 228345944, 228345950-228345953, 228345977-228345980, 228345987-228346238, 228346259-228346261, 228346308-228346317, 228346326-228346625, 228346680
86ACTA110.861552028218691571134229567814-229567860, 229567880-229567897, 229567906-229567932, 229568017, 229568079-229568087, 229568097-229568101, 229568106-229568115, 229568124-229568147, 229568338-229568347, 229568458-229568463
87LYST10.993862879186397011406235866134-235866136, 235866152-235866157, 235875452-235875479, 235896973, 235896982-235896983, 235896991, 235897141, 235897873, 235897880-235897881, 235907376, 235907379, 235933519, 235933522, 235933526-235933527, 235944239-235944240, 235944256, 235944262-235944268, 235944294-235944296, 235972448-235972449, 235973032, 235973035-235973037
88ACTN210.947486033519551412685236849974-236850099, 236917289-236917292, 236917297, 236917381, 236924416-236924424
89MTR10.9994734070563523798237013676, 237058731
90RYR210.992216854535711614904237205840, 237205849-237205869, 237729924-237729949, 237791226, 237791231-237791233, 237791242, 237821244-237821279, 237821299-237821322, 237838090, 237838095, 237942007
91FH10.9928245270711111533241672054, 241682947, 241682963-241682965, 241682971-241682973, 241682979, 241682991-241682992
92NLRP310.9996785599485713111247587723
93NET1100.99609156895589717915454670-5454671, 5454695-5454696, 5454702, 5454706, 5454709
94GATA3100.938576779026228213358097699, 8097725-8097748, 8097764-8097801, 8100738-8100755, 8100760
95PHYH100.9754178957718825101713341986-13341988, 13341994-13341996, 13341999-13342003, 13342014-13342022, 13342028-13342032
96CUBN100.9969646799117331087216882355, 16882358-16882367, 16882370, 16882374, 17032390, 17032393-17032396, 17085844, 17085908, 17085910, 17085923, 17142040-17142045, 17142049-17142050, 17142054, 17142093-17142094
97PTF1A100.2755825734549171598723481460-23482174
98PDSS1100.91586538461538105124826986670, 26986673, 26986681, 26986686-26986704, 26986720, 26986722, 26986726-26986745, 26986748, 26986759-26986766, 26994215, 26994225-26994227, 26994251-26994298
99RET100.96860986547085105334543572707-43572779, 43595979, 43595982, 43595996-43596006, 43598074-43598076, 43600517-43600521, 43615080-43615086, 43619212-43619214, 43619220
100ERCC6100.9895136099955447448250736551-50736564, 50738843, 50740787-50740815, 50740818, 50740821-50740822
101CHAT100.92968402314197158224750822268-50822423, 50822481, 50822487
102PCDH15100.9911699779249452588955587178-55587223, 55587241-55587243, 55626571, 56138661-56138662
103EGR2100.9930118798043310143164573357, 64573493-64573495, 64573784-64573789
104NODAL100.996168582375484104472201338, 72201342-72201344
105PRF1100.9562350119904173166872358306-72358311, 72358314-72358317, 72358340-72358345, 72358448-72358491, 72358871-72358872, 72358875-72358876, 72360400-72360408
106PCBD1100.99047619047619331572648288-72648290
107SLC29A3100.999299719887961142873082587
108CDH23100.99194510739857811005673206086-73206093, 73464764-73464809, 73490298, 73490348-73490351, 73550129, 73565742, 73565745-73565754, 73565945, 73574824-73574827, 73574836-73574839, 73574907
109VCL100.96358296622614124340575757966-75758029, 75758067-75758074, 75758089-75758133, 75832539, 75873963, 75873966-75873969, 75873983
110LDB3100.9697802197802266218488476084-88476088, 88476122, 88476158-88476185, 88476398-88476405, 88476411-88476421, 88476427-88476429, 88476434, 88476471-88476477, 88476487-88476488
111BMPR1A100.9893683552220117159988683133-88683149
112GLUD1100.75313059033989414167788836362-88836368, 88854082-88854304, 88854310-88854313, 88854316, 88854337-88854351, 88854354, 88854357-88854367, 88854375-88854526
113LIPA100.996666666666674120090974615-90974618
114ZFYVE27100.999190938511331123699512916
115HPS1100.99430199430199122106100177358-100177361, 100177369, 100177373, 100177375, 100177385, 100177428-100177429, 100177460-100177461
116COX15100.9983779399837821233101474447, 101491729
117PAX2100.98999230177059131299102587324, 102587329-102587330, 102587333-102587341, 102587421
118FBXW4100.93866020984665761239103371137, 103371140, 103454151, 103454213, 103454220-103454221, 103454229, 103454236-103454246, 103454249, 103454317-103454324, 103454329-103454343, 103454354-103454387
119HPS6100.764175257731965492328103825232-103825520, 103825528-103825542, 103825545-103825574, 103825582, 103825608, 103825612, 103825639-103825686, 103825695-103825726, 103825747-103825750, 103825758-103825801, 103825808-103825846, 103826052-103826054, 103826060, 103826233-103826242, 103826246-103826254, 103826997-103827005, 103827440-103827452
120SUFU100.94295532646048831455104263910-104263959, 104263974-104263982, 104263985-104264007, 104264030
121COL17A1100.98954161103694474494105794026-105794028, 105794035-105794036, 105794043, 105816803-105816804, 105816807-105816816, 105816821, 105816825-105816830, 105816834-105816855
122EMX2100.70882740447958221759119302779-119302967, 119302996-119303000, 119303004-119303017, 119303023-119303028, 119303041-119303047
123BAG3100.892939814814811851728121411188-121411367, 121429577-121429580, 121431838
124FGFR2100.9971579374746272463123279508-123279514
125HTRA1100.721413721413724021443124221169-124221498, 124221511-124221513, 124221517, 124221560, 124221563-124221565, 124221568-124221610, 124221618, 124221622-124221638, 124266227, 124266234-124266235
126ACADSB100.9984603541185521299124810701-124810702
127UROS100.981203007518815798127477437-127477445, 127477455-127477456, 127477538-127477540, 127503615
128HRAS110.991228070175445570534213-534216, 534221
129TALDO1110.9043392504931971014747482-747578
130SLC25A22110.87037037037037126972792023-792032, 792598-792617, 792624-792630, 792643, 792647-792690, 792693-792700, 792703, 792870-792874, 792881-792888, 792891, 792897-792905, 792920, 792923-792924, 792932-792939, 794794
131PNPLA2110.811881188118812851515819719-819905, 823754, 823805, 823809, 823834-823855, 823998-824004, 824010-824016, 824027-824034, 824060, 824068, 824314-824316, 824331, 824337, 824340, 824343, 824402-824403, 824417, 824429, 824539-824549, 824643-824644, 824670-824672, 824708-824716, 824730-824741, 824789
132CTSD110.9039548022598911912391774747-1774750, 1775033-1775052, 1775062, 1775242, 1775245, 1775248, 1775253, 1775294, 1775310-1775311, 1775325-1775340, 1775348-1775368, 1778562, 1785022-1785031, 1785033, 1785052-1785089
133TNNI2110.93989071038251335491861633-1861643, 1861667-1861674, 1862057-1862058, 1862062-1862063, 1862078, 1862081-1862083, 1862126-1862130, 1862333
134H19110.915032679738569110712017334, 2017415-2017421, 2017814-2017862, 2017964, 2017969, 2017975-2017979, 2017985-2017988, 2017993-2017996, 2018129-2018139, 2018145-2018146, 2018358-2018363
135IGF2110.739803094233471857112154253, 2154343-2154350, 2154357, 2154368-2154380, 2161365-2161526
136TH110.8812698412698418715752187722-2187779, 2187865, 2187892, 2187949-2187983, 2187986-2187988, 2188119, 2188122, 2188171-2188174, 2188193, 2190924-2190928, 2190999-2191033, 2191923-2191928, 2191938-2191944, 2191949, 2191951, 2191954, 2191968-2191983, 2191989-2191998
137KCNQ1110.8340718857705633720312466329-2466645, 2466655-2466670, 2466708-2466709, 2466714, 2869220
138CDKN1C110.238696109358577249512905236-2905252, 2905263-2905269, 2905273-2905274, 2905280-2905286, 2905292-2905296, 2905900-2906491, 2906507, 2906546-2906549, 2906562-2906571, 2906574-2906583, 2906589, 2906595-2906596, 2906607, 2906610, 2906618, 2906622-2906626, 2906632-2906640, 2906665-2906713
139SMPD1110.982067510548523418966411931-6411942, 6411953, 6412727-6412732, 6412737-6412746, 6412870, 6413164-6413166, 6413183
140SBF2110.987027027027037255509838389-9838393, 9838403, 9838407-9838411, 9838418-9838422, 9838478, 10315562-10315616
141ABCC8110.9924146649810436474617449849, 17449852, 17449856, 17449861, 17449870-17449877, 17452427-17452428, 17452438-17452439, 17498273-17498278, 17498287-17498297, 17498316-17498318
142USH1C110.91444444444444231270017531112-17531339, 17531991-17531992, 17544991
143LDHA110.998998998999199918422490
144SLC6A5110.9916457811194720239420622729-20622738, 20622800, 20622803, 20622852-20622858, 20622931
145ANO5110.9722830051057676274222276968, 22276984-22277058
146FANCF110.9813333333333321112522646843-22646849, 22646941-22646947, 22647231-22647233, 22647237-22647239, 22647260
147PAX6110.993695823483068126931824288-31824292, 31824304, 31824311, 31824333
148WT1110.72393822393822429155432449508-32449513, 32449518-32449520, 32456301, 32456343, 32456359, 32456362, 32456374, 32456441-32456454, 32456456-32456459, 32456495-32456891
149PDHX110.9913678618857913150634938208-34938217, 35016555-35016557
150RAG1110.999361430395912313236595044, 36596035
151ALX4110.83090614886731209123644331147-44331195, 44331220-44331242, 44331249-44331317, 44331334-44331339, 44331358-44331401, 44331509, 44331540-44331541, 44331573-44331577, 44331591-44331593, 44331600-44331606
152SLC35C1110.937566105645827423-45827442, 45827448-45827453, 45827617-45827619, 45827629, 45827639-45827643, 45827657, 45827668-45827673, 45827678, 45827687, 45827690, 45827787, 45827793-45827798, 45827812-45827818, 45827835-45827837, 45827841-45827844
153PEX16110.9903938520653210104145935966-45935969, 45935977, 45937372, 45939281-45939284
154DDB2110.999221183800621128447236805
155MYBPC3110.999215686274513382547365100-47365101, 47371441
156SLC39A13110.9883512544802913111647431744-47431748, 47431766, 47433506, 47433912-47433916, 47435041
157RAPSN110.9572235673930653123947460299, 47460335, 47460338-47460339, 47460354, 47460387-47460393, 47460398-47460411, 47460425-47460428, 47464236-47464251, 47464260-47464264, 47469476, 47469665
158SERPING1110.9654025282767852150357365744-57365794, 57381928
159TMEM216110.96969696969697826461165267, 61165285-61165290, 61165338
160BEST1110.9931740614334512175861719348-61719350, 61719355, 61723190, 61723361, 61723367, 61723378, 61723382, 61723385-61723386, 61723399
161ROM1110.9526515151515250105662380754-62380758, 62380770-62380772, 62380775-62380778, 62380786-62380794, 62380822, 62380826-62380827, 62381862-62381887
162BSCL2110.9712023038156940138962457914-62457950, 62472932-62472934
163SLC22A12110.9825511432009629166264360284-64360290, 64367172-64367174, 64367254-64367256, 64367261-64367263, 64367267-64367279
164PYGM110.9723210755239270252964521030, 64521043-64521045, 64521119-64521133, 64521141-64521149, 64521400, 64527128-64527147, 64527156-64527176
165MEN1110.999458874458871184864572557
166RNASEH2C110.846464646464657649565488090-65488092, 65488095-65488097, 65488104, 65488107, 65488153-65488219, 65488229
167CST6110.951111111111112245065779590, 65779605-65779607, 65779623-65779625, 65779650-65779656, 65779662, 65779667-65779668, 65779674-65779676, 65780413, 65780416
168BBS1110.9803591470258135178266281877-66281880, 66298410-66298440
169SPTBN2110.9905200055764768717366453475-66453480, 66453482-66453495, 66455339-66455341, 66455344-66455346, 66455350, 66455353-66455358, 66455382, 66455659, 66455662, 66455665, 66456143, 66457654-66457655, 66457721, 66460736, 66461280, 66461300-66461302, 66461650, 66472218, 66472222, 66472291, 66472294, 66472444-66472446, 66472659-66472669, 66472727-66472729
170PC110.9940627650551321353766620064-66620068, 66620118, 66633658-66633661, 66633684, 66633690-66633691, 66633774-66633780, 66633815
171CABP4110.9951690821256482867225897-67225900
172AIP110.985901309164151499367257811-67257823, 67257827
173NDUFS8110.99684044233807263367803930, 67803933
174TCIRG1110.95868431608504103249367810219-67810220, 67810223, 67810258-67810294, 67810459-67810462, 67810882, 67810942-67810943, 67810962-67810964, 67811304, 67811311-67811316, 67811319-67811321, 67811324-67811344, 67811348-67811357, 67811645-67811655, 67816584
175LRP5110.96575907590759166484868080183-68080273, 68115491-68115498, 68115711, 68131216-68131217, 68131260-68131261, 68192637, 68207349-68207384, 68216356, 68216359, 68216446-68216447, 68216453, 68216456-68216465, 68216468, 68216508-68216509, 68216521-68216527
176IGHMBP2110.996981891348099298268671469, 68671477, 68703959, 68704530-68704535
177DHCR7110.9572829131652761142871146449-71146452, 71146455-71146456, 71146462-71146479, 71146482, 71146486-71146490, 71146499-71146500, 71146572-71146584, 71146594-71146597, 71146638-71146639, 71146667, 71146746, 71146824-71146828, 71146831-71146833
178LRTOMT110.99885844748858187671819716
179MYO7A110.9939831528279240664876858911-76858913, 76873374, 76873958-76873970, 76883896, 76890801, 76914258-76914259, 76916640-76916642, 76922284-76922299
180ALG8110.998734977862112158177812209-77812210
181FZD4110.9795539033457233161486665898, 86665908, 86665922, 86666048-86666053, 86666088, 86666094-86666106, 86666109-86666113, 86666117-86666121
182TYR110.993710691823910159088911399-88911402, 89028529-89028534
183MTMR2110.978778467908941193295657070-95657072, 95657078-95657114, 95657118
184TRPC6110.9974964234620972796101342075-101342079, 101454203, 101454207
185DYNC2H1110.986249517188117812945102991501, 102991504, 102991516-102991531, 103043820-103043846, 103043861-103043902, 103052486-103052507, 103052538, 103052550-103052551, 103052558, 103057033-103057040, 103062272-103062282, 103062293-103062298, 103062320-103062342, 103062982-103062989, 103070091, 103106452-103106454, 103126149-103126151, 103130665, 103173904
186ACAT1110.9976635514018731284107992363, 107992366-107992367
187ATM110.99400283502344559171108098503-108098509, 108098518-108098522, 108127017-108127058, 108202225
188RDX110.98972602739726181752110108253, 110108296-110108308, 110108311, 110108318-110108319, 110126046
189ALG9110.96023965141612731836111742080-111742086, 111742108-111742123, 111742125-111742145, 111742147-111742171, 111742177-111742180
190DLAT110.98199588477366351944111896405-111896408, 111909990-111909998, 111910003, 111910008-111910023, 111910027-111910031
191APOA1110.9651741293532328804116706631, 116706644, 116706728-116706734, 116706745-116706747, 116706767-116706769, 116706777-116706780, 116706798, 116706803-116706804, 116706886-116706891
192FXYD2110.988584474885845438117693255, 117693261-117693264
193SCN4B110.997088791848622687118011974, 118011997
194ROBO3110.954337899543381904161124738904-124738911, 124738922-124738932, 124738935-124738941, 124739429-124739431, 124742338-124742363, 124744755-124744759, 124745462, 124745908-124745937, 124745943-124745984, 124746016, 124746177-124746202, 124746213-124746231, 124746249-124746252, 124746261, 124746266, 124746329, 124746333, 124746337, 124748556, 124750418
195ACAD8110.9927884615384691248134123506-134123508, 134123521-134123524, 134123529, 134123549
196WNK1120.977759127150651597149862733-862736, 862739-862741, 862744-862745, 862790-862811, 862827-862861, 862866-862870, 862878-862902, 862931-862939, 862978, 862989, 863009, 863060, 863066-863069, 863142-863146, 863148, 863162-863165, 863172-863177, 863207, 863256-863270, 987429-987431, 994417, 1017071-1017072, 1017079-1017086
197CACNA2D4120.996485061511421234141920880, 1994225, 2027537-2027546
198CACNA1C120.990702636793176165612705117, 2788718-2788720, 2788729, 2788876-2788879, 2788893-2788896, 2788902-2788907, 2794934-2794940, 2797632, 2797728-2797730, 2797826, 2797891-2797909, 2800176-2800177, 2800299, 2800302-2800306, 2800328, 2800331, 2800364
199KCNA1120.99395161290323914885020620, 5020680, 5020683, 5020697-5020699, 5020702, 5020836, 5020842
200VWF120.9632788438758631084426058181-6058183, 6058292-6058311, 6125301-6125344, 6125725, 6127655-6127661, 6128167-6128173, 6128339-6128345, 6128443, 6128449-6128451, 6131112-6131118, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166023-6166060, 6166082-6166088, 6166095-6166141, 6166162-6166178, 6166199-6166219, 6166227-6166238, 6167196, 6174423
201TNFRSF1A120.9254385964912310213686438493-6438529, 6438574-6438576, 6438600-6438647, 6438663-6438674, 6438984-6438985
202SCNN1A120.993598536808411421876472614-6472615, 6472648-6472649, 6472663, 6472674, 6472688, 6472695, 6472719, 6472734, 6472744-6472747
203TPI1120.857333333333331077506976731-6976778, 6976785-6976843
204ATN1120.9521410579345117135737045597-7045603, 7045606-7045610, 7045613-7045617, 7045903-7045939, 7045989, 7045993, 7046311-7046338, 7046361-7046368, 7046378-7046386, 7046514-7046520, 7046533, 7046576-7046605, 7046704, 7046719, 7046723, 7047120-7047135, 7047140-7047145, 7047195, 7050625, 7050631-7050634, 7050677
205CDKN1B120.99832495812395159712871109
206GYS2120.9928977272727315211221712026, 21712055-21712064, 21721886-21721889
207ABCC9120.9963440860215117465021998547-21998552, 21998559-21998564, 21998575-21998576, 22025622, 22063863, 22063885
208DNM1L120.9900497512437822221132832380-32832388, 32832391-32832393, 32832398-32832399, 32890845-32890847, 32890853-32890857
209PKP2120.94789180588703131251433049443-33049448, 33049454-33049459, 33049464-33049465, 33049502-33049508, 33049522-33049561, 33049571-33049604, 33049630-33049665
210KIF21A120.9877657440834361498639726754-39726762, 39726800-39726806, 39760205-39760210, 39760215, 39760224-39760226, 39836729-39836741, 39836751-39836772
211LRRK2120.9899789029535976758440619009-40619041, 40643739, 40687376, 40734202, 40761479-40761518
212IRAK4120.9920462762111411138344165135-44165137, 44165144-44165147, 44180204-44180207
213VDR120.9867601246105917128448238700-48238712, 48251362-48251365
214COL2A1120.9829749103942776446448377517, 48379538-48379565, 48393807-48393813, 48393819, 48393831-48393836, 48393842-48393844, 48398055-48398065, 48398069-48398074, 48398080-48398081, 48398085-48398089, 48398095-48398096, 48398098-48398101
215MLL2120.960033706512586641661449420803-49420806, 49420892, 49424106, 49424121, 49424416-49424425, 49424449-49424475, 49425432-49425437, 49425448-49425451, 49425814-49425815, 49425818-49425820, 49426111-49426114, 49426216, 49426496, 49426629, 49426632, 49426635, 49426638, 49426641-49426644, 49426675, 49426692, 49426708-49426823, 49426850-49426940, 49426949-49426983, 49427018-49427027, 49427031-49427037, 49427042, 49427046-49427055, 49427058, 49427063-49427066, 49427078, 49427087-49427096, 49427098-49427102, 49427119, 49427154, 49427168-49427169, 49427172, 49427196-49427232, 49427246-49427335, 49427547-49427569, 49427603, 49427607-49427611, 49427620-49427627, 49427658-49427665, 49427670-49427675, 49431291-49431293, 49431306-49431309, 49431318, 49431321, 49431333, 49431508-49431555, 49431830-49431838, 49431840, 49431843-49431845, 49433288, 49434049-49434051, 49434058-49434063, 49434074-49434083, 49434087-49434097, 49434509, 49434516-49434517, 49434939-49434940, 49435061, 49435110, 49435124, 49435127, 49435130, 49435454, 49443503-49443504
216DHH120.88832913518052133119149483642-49483647, 49483649, 49483664-49483670, 49483673-49483682, 49483709-49483734, 49483740-49483750, 49483753-49483775, 49483846, 49483849-49483851, 49483856-49483857, 49483868-49483871, 49483888-49483916, 49483976, 49483979-49483980, 49484129-49484133, 49484137, 49488204
217ACVRL1120.9623015873015957151252307359, 52307364, 52307372, 52307378-52307385, 52309133-52309137, 52309145-52309146, 52312861-52312899
218KRT81120.9795783926218731151852680259, 52682999-52683005, 52684928-52684943, 52685184, 52685187-52685191, 52685194
219KRT86120.9808350444900828146152695763, 52695771, 52696007-52696022, 52697034, 52697949-52697955, 52702368-52702369
220KRT83120.997975708502023148252713115-52713117
221KRT6B120.964601769911560169552841187, 52841338-52841344, 52841652, 52844243, 52844246, 52844265, 52845527-52845534, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845801
222KRT6C120.9663716814159357169552865903, 52865906, 52865918, 52865925, 52866009-52866025, 52867105, 52867186-52867193, 52867256-52867269, 52867324, 52867339-52867342, 52867456-52867463
223KRT6A120.9634218289085562169552881519, 52881868-52881874, 52885374-52885381, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886796
224KRT5120.93683023124647112177352908767-52908768, 52908788-52908790, 52908811-52908850, 52908866-52908911, 52910511, 52912900-52912910, 52912918, 52912921-52912923, 52912928-52912932
225KRT2120.9968756192053040616-53040618, 53040624, 53040627-53040628
226KRT1120.9829457364341133193553069127-53069128, 53069223-53069243, 53069249, 53069257, 53069298-53069304, 53070159
227ITGA7120.9970811441914810342656086695-56086698, 56088564-56088566, 56096907, 56101438, 56101454
228MYO1A120.9964878671775211313257431768, 57431782-57431791
229KIF5A120.9754759599870976309957944055, 57944062-57944105, 57944128, 57944133-57944142, 57944145-57944146, 57944156-57944173
230CDK4120.99671052631579391258143005-58143007
231CYP27B1120.996070726915526152758159809-58159813, 58159964
232TSFM120.983640081799591697858176589-58176592, 58176599-58176603, 58176615-58176617, 58176620-58176623
233GNS120.998191681735993165965152971, 65152976, 65152980
234LEMD3120.92543859649123204273665563383-65563387, 65563390-65563393, 65563396-65563397, 65563403-65563409, 65563429, 65563437, 65563440, 65563450-65563459, 65563592-65563598, 65563602-65563609, 65563623-65563624, 65563627, 65563633-65563636, 65563639, 65563704-65563726, 65563734-65563765, 65563780-65563797, 65563838-65563875, 65563889-65563905, 65563971-65563978, 65563989-65563994, 65564002, 65564005-65564009, 65564091, 65564393
235CEP290120.9904569892473171744088456514-88456520, 88471560-88471561, 88472979-88472980, 88472983-88472986, 88476826, 88476829, 88505482-88505483, 88505630-88505635, 88514053, 88519040-88519050, 88519061-88519080, 88519143, 88520195-88520202, 88522788-88522791, 88524951
236HAL120.9944275582573511197496380894, 96389640-96389647, 96389661, 96389664
237TMPO120.94580335731415113208598909709-98909717, 98909770-98909773, 98909776-98909812, 98909819-98909829, 98909853-98909856, 98909877-98909924
238SLC25A3120.999081726354451108998987839
239SLC17A8120.98135593220339331770100774543-100774574, 100797879
240UNG120.9501061571125347942109535527-109535564, 109535580, 109535583-109535586, 109535589, 109535597-109535599
241MVK120.9991603694374511191110034234
242TRPV4120.9992354740061222616110221472, 110236537
243ATP2A2120.98306168104826533129110719599-110719604, 110719611-110719646, 110719653-110719655, 110719666-110719672, 110719677
244MYL2120.9680638722554916501111348900-111348915
245ATXN2120.828006088280066783942112036588-112037234, 112037246-112037251, 112037254-112037255, 112037258-112037264, 112037269, 112037272, 112037275-112037282, 112037284, 112037308-112037311, 112037313
246PTPN11120.98933782267116191782112856916-112856929, 112893767-112893768, 112893773-112893775
247SDS120.998986828774061987113835111
248TBX5120.9820166987797281557114793778, 114804116-114804118, 114804124-114804127, 114841604-114841611, 114841630-114841635, 114841687-114841688, 114841696-114841698, 114841703
249TBX3120.879032258064522702232115109847-115109850, 115109856-115109870, 115109877-115109878, 115109880-115109882, 115109888, 115110042, 115112018-115112023, 115112039, 115112047, 115112053-115112063, 115112075-115112076, 115112081-115112093, 115112095-115112109, 115112112-115112115, 115112127-115112146, 115112223-115112250, 115112268-115112307, 115112316-115112336, 115112356-115112397, 115112416-115112450, 115112528-115112531, 115120848
250ACADS120.9975786924939531239121163717, 121163721, 121163733
251HNF1A120.928270042194091361896121416591-121416625, 121416647-121416653, 121416690-121416717, 121434169-121434171, 121435342, 121435363-121435365, 121435368, 121437307-121437317, 121437382, 121437394-121437402, 121437411-121437412, 121438873-121438907
252PUS1120.899532710280371291284132414268-132414341, 132414452-132414463, 132414473-132414475, 132414480-132414481, 132414486, 132414490-132414494, 132414503-132414512, 132414515-132414516, 132414519, 132414522, 132414525, 132414537-132414545, 132425998-132426001, 132426007-132426008, 132426016, 132426437
253GJB6130.99491094147583478620797226-20797227, 20797230, 20797356
254SACS130.988282387190681611374023906225, 23907321, 23911334-23911341, 23949258-23949408
255PDX1130.7617370892018820385228494318, 28494336, 28494343, 28494349-28494351, 28494354, 28494361-28494362, 28494407-28494413, 28494445-28494446, 28494449-28494450, 28494462-28494465, 28494509-28494511, 28494562-28494565, 28494581, 28494584-28494594, 28494597, 28494622, 28498393-28498400, 28498410-28498417, 28498433-28498455, 28498458-28498460, 28498469-28498518, 28498634-28498674, 28498693-28498702, 28498708-28498710, 28498758-28498764, 28498812-28498814, 28498819-28498820
256B3GALTL130.9532398129592570149731774222-31774291
257BRCA2130.9999025056059311025732930709
258FREM2130.9902208201892793951039261572-39261573, 39261793-39261798, 39261834-39261873, 39261911-39261923, 39261931-39261932, 39261946-39261951, 39261965-39261970, 39261973-39261975, 39262057-39262063, 39433583-39433584, 39450243-39450244, 39451290-39451293
259TNFSF11130.940251572327045795443148494-43148550
260SUCLA2130.9669540229885146139248528368-48528376, 48528384, 48528405, 48547451, 48547465-48547473, 48570992-48570997, 48571000-48571002, 48571005-48571018, 48575364, 48575367
261RB1130.9720129171151878278748878090-48878097, 48878103, 48878118-48878185, 48923097
262RNASEH2B130.946751863684775093951484213-51484243, 51484258-51484276
263ATP7B130.999317871759893439852523879-52523881
264CLN5130.9763071895424829122477566266-77566267, 77566284-77566287, 77566293, 77566385-77566406
265EDNRB130.995485327313776132978474705-78474707, 78474722, 78474762, 78477674
266SLITRK1130.998087039693934209184453781, 84453791-84453793
267GPC6130.998201438848923166893879785-93879787
268ZIC2130.413383364602889381599100634319-100634831, 100634861-100634867, 100634870-100634871, 100634874, 100634887, 100634904-100634944, 100635000-100635040, 100635148-100635149, 100635207-100635228, 100637249-100637252, 100637340-100637342, 100637348, 100637583, 100637589-100637597, 100637603-100637610, 100637614, 100637619, 100637632-100637692, 100637699-100637891, 100637899-100637924
269PCCA130.9817101051669402187100741406, 100741431-100741469
270ERCC5130.99598962019344174239103510680-103510686, 103515391-103515400
271COL4A1130.98802395209581605010110864244, 110959308-110959316, 110959325-110959374
272F7130.904119850187271281335113765019-113765093, 113765102-113765112, 113765117, 113765130-113765137, 113765156-113765164, 113770033, 113770036-113770045, 113770058, 113772804-113772805, 113772956-113772958, 113772962, 113773035-113773040
273F10130.98841172460804171467113777180-113777188, 113777192, 113798222-113798228
274GRK1130.97399527186761441692114321805-114321832, 114325866-114325867, 114325907-114325916, 114325951-114325952, 114325964, 114426065
275TEP1140.9982242516489114788420841505, 20841527, 20841530, 20850868-20850874, 20851774-20851775, 20852377-20852378
276RPGRIP1140.9981869981877386121769186-21769188, 21769196-21769198, 21819302
277SLC7A7140.996744791666675153623282120, 23282127, 23282133, 23282137, 23282143
278PABPN1140.6178067318132535292123790679-23791029, 23793493
279MYH6140.997938144329912582023858204-23858211, 23858232, 23862975-23862977
280MYH7140.993973829201135580823884848, 23886744-23886745, 23886756-23886759, 23886885, 23886888, 23887562-23887563, 23887567, 23887572, 23888386-23888405, 23894088-23894089
281NRL140.7535014005602217671424550512, 24550515, 24550540, 24550550-24550560, 24550566-24550575, 24550581, 24550583-24550593, 24550607-24550653, 24550663, 24550667, 24550670-24550698, 24550707-24550718, 24550722-24550724, 24550737-24550777, 24551813, 24551816-24551819, 24551822
282TINF2140.999262536873161135624711490
283FOXG1140.64965986394558515147029236486-29236982, 29237204, 29237207, 29237213, 29237267, 29237294-29237297, 29237310-29237312, 29237322-29237325, 29237338, 29237342, 29237348
284CFL2140.9940119760479350135183744-35183746
285NKX2-1140.55721393034826534120636986496-36986503, 36986579-36986648, 36986655-36986665, 36986672-36986911, 36986917-36986949, 36986976-36986990, 36987029-36987036, 36987048-36987051, 36987063-36987067, 36987078-36987097, 36987108-36987129, 36987201, 36988196, 36988247-36988253, 36988335-36988343, 36988376-36988381, 36988390-36988399, 36989260-36989265, 36989275-36989331, 36989334
286PAX9140.99902534113061102637132654
287FANCM140.9957702944525826614745605362-45605364, 45623912-45623914, 45623931, 45623936, 45623980, 45623992, 45623997, 45644516-45644520, 45644526-45644531, 45644707, 45650642-45650644
288MGAT2140.9903273809523813134450088123-50088127, 50088132-50088133, 50088142-50088146, 50088149
289C14orf104140.75377883850438619251450092486-50092490, 50092506-50092511, 50092514-50092515, 50100607, 50100630, 50100637, 50100667-50100679, 50100683, 50100690-50100704, 50100728-50100735, 50100748-50100750, 50100754-50100758, 50100770-50100854, 50100870-50101069, 50101078-50101117, 50101119-50101124, 50101127-50101136, 50101138-50101140, 50101153-50101174, 50101232-50101239, 50101243-50101259, 50101267-50101271, 50101337-50101469, 50101476-50101477, 50101483, 50101557, 50101560-50101568, 50101574, 50101694, 50101801-50101804, 50101848-50101857
290L2HGDH140.993534482758629139250778736-50778738, 50778742, 50778745-50778748, 50778816
291PYGL140.997248427672967254451410949-51410951, 51410958-51410961
292GCH1140.7795484727755616675355326415-55326416, 55326419, 55369114-55369140, 55369234-55369236, 55369239, 55369250-55369381
293OTX2140.99776286353468289457272087, 57272090
294SIX6140.985155195681511174160976533, 60976537, 60977833-60977837, 60977858-60977861
295SIX1140.96257309941523285561115420-61115432, 61115539, 61115542, 61115601-61115604, 61115608, 61115612-61115619, 61115623-61115626
296SYNE2140.9979733642154422072464447782, 64447785, 64457808, 64460553-64460554, 64580271, 64608182-64608194, 64676700, 64676703-64676708, 64676716, 64676722, 64685217-64685225, 64692127-64692131
297ZFYVE26140.9984251968503912762068242690-68242697, 68265210, 68274192-68274194
298PSEN1140.999287749287751140473678629
299VSX2140.9208103130755186108674706323-74706325, 74706329-74706342, 74706393-74706399, 74706410-74706420, 74706423, 74706427, 74706452-74706454, 74706460-74706465, 74706471-74706472, 74706476-74706484, 74706566, 74706571-74706572, 74706575, 74706601-74706616, 74706619-74706620, 74706624-74706630
300EIF2B2140.9602272727272742105675471483-75471524
301FLVCR2140.998102466793173158176045905-76045906, 76112771
302TGFB3140.9822437449556122123976447191-76447210, 76447218-76447219
303ESRRB140.9698755730189946152776905728-76905732, 76964670-76964671, 76964675, 76964681-76964697, 76964703-76964713, 76964715-76964719, 76964724-76964728
304POMT2140.9640479360852281225377745192-77745194, 77786832, 77786870, 77786893-77786927, 77786948-77786973, 77786978-77786988, 77787013-77787016
305VIPAR140.998650472334682148277894758, 77894761
306GALC140.964528668610373205888459333-88459334, 88459339, 88459380-88459410, 88459427-88459437, 88459445-88459449, 88459451-88459452, 88459456-88459469, 88459472-88459478
307SPATA7140.996666666666676180088883149-88883150, 88883153-88883155, 88883167
308TTC8140.9670542635658951154889305804-89305813, 89343646-89343682, 89343716-89343717, 89343722-89343723
309ATXN3140.9696132596685133108692537351-92537382, 92559630
310AMN140.530102790014686401362103390134, 103394786-103394835, 103395119-103395155, 103395161, 103395185-103395189, 103395192-103395201, 103395211-103395214, 103395224-103395228, 103395263-103395266, 103395274-103395278, 103395458-103395478, 103395501-103395535, 103395541-103395551, 103395559-103395565, 103395569, 103395575-103395579, 103395587-103395594, 103395769-103395772, 103395777, 103395787-103395790, 103395855-103395873, 103395992-103395993, 103396035, 103396305-103396351, 103396371-103396401, 103396422-103396423, 103396502-103396664, 103396743-103396793, 103396802-103396830, 103396913-103396949, 103396952, 103396969-103397006
311INF2140.864533333333335083750105167721-105167725, 105167890, 105167909-105167939, 105167962-105167969, 105167975-105167978, 105168013-105168015, 105168018, 105168022, 105169762, 105170253, 105170256, 105170259-105170263, 105170276, 105173302, 105173622, 105173631-105173634, 105173639-105173641, 105173645-105173649, 105173674, 105173678, 105173707-105173709, 105173719-105173725, 105173748-105173753, 105173759-105173774, 105173777, 105173782-105173787, 105173839-105174188, 105174235-105174237, 105174270-105174276, 105174285-105174288, 105174315-105174328, 105174337-105174339, 105177500, 105179615, 105181126-105181132
312NIPA1150.8202020202020217899023086234-23086411
313UBE3A150.9786910197869156262825584284, 25584339, 25616145-25616177, 25616251-25616257, 25616358-25616364, 25616620-25616626
314OCA2150.9809296781883248251728202817-28202819, 28202823-28202825, 28202836-28202842, 28263554-28263556, 28263680-28263681, 28326866-28326868, 28326873-28326884, 28326889-28326890, 28326894-28326898, 28326946, 28326955-28326956, 28326959, 28326969-28326972
315TRPM1150.9916874480465540481231320556-31320594, 31320617
316ACTC1150.99735449735453113435086920-35086922
317IVD150.99921935987511128140698089
318CHST14150.83731211317418184113140763413-40763545, 40763561, 40763564-40763573, 40763655, 40763661-40763667, 40763677-40763680, 40763683, 40763690, 40763694, 40763720, 40763726-40763728, 40763738, 40763747, 40763798, 40763804-40763813, 40763820-40763824, 40763828-40763829, 40763993
319CAPN3150.998774509803923244842652056-42652058
320CDAN1150.88897937024973409368443017731-43017732, 43019901-43019903, 43021451, 43021798-43021799, 43026459-43026461, 43026464, 43026488-43026490, 43028528-43028530, 43028540-43028542, 43028545, 43028578-43028583, 43028592-43028593, 43028605-43028606, 43028664-43028669, 43028678, 43028682-43028685, 43028689-43028695, 43028697, 43028711-43028978, 43029211-43029300
321TTBK2150.9965194109772413373543067749-43067752, 43067857, 43103891, 43103895-43103898, 43103958-43103960
322STRC150.9885510510510561532843896222-43896225, 43896233, 43896236-43896245, 43896250-43896254, 43896257, 43896313, 43905040, 43905043, 43905047, 43905050, 43905053-43905055, 43905066, 43905356-43905360, 43908044-43908045, 43908070, 43908185-43908194, 43908560, 43910219, 43910867-43910872, 43910889, 43910893-43910896
323STRC150.99832495812395159744004822
324STRC150.9928205128205114195044007506-44007507, 44007532, 44007647-44007656, 44009681
325SPG11150.9982269503546113733244876586, 44955671, 44955688, 44955691-44955692, 44955699-44955706
326DUOX2150.9812782440284187464745398348-45398359, 45403587, 45403590-45403592, 45403621-45403659, 45403669, 45403691-45403695, 45403701-45403710, 45403715-45403717, 45403736-45403739, 45403747, 45403750, 45403756, 45403780-45403783, 45404813-45404814
327GATM150.9536163522012659127245670583-45670591, 45670601-45670650
328FBN1150.999883936861651861648936957
329CEP152150.9957703927492421496549036438, 49036441-49036449, 49036515, 49059563-49059566, 49059573, 49059583, 49059589-49059590, 49076178-49076179
330TPM1150.956725146198833785563335040-63335050, 63335086-63335088, 63335092-63335093, 63335130-63335142, 63335940, 63336014-63336020
331PPIB150.877112135176658065164455077-64455079, 64455094-64455141, 64455146-64455164, 64455171-64455173, 64455179-64455185
332CLN6150.907051282051288793668500667, 68506712-68506714, 68521840-68521922
333NR2E3150.89130434782609120110472103826-72103852, 72103886-72103947, 72104153-72104158, 72104167-72104174, 72104184, 72104188-72104189, 72104399-72104405, 72105805-72105811
334HEXA150.9886792452830218159072668074, 72668140-72668156
335HCN4150.697674418604651092361273614826, 73614834, 73614851, 73614854, 73614880-73614888, 73614891, 73614895-73614901, 73614906, 73614926-73614927, 73615018-73615043, 73615060-73615076, 73615080-73615081, 73615084-73615094, 73615112-73615150, 73615191-73615214, 73615222-73615269, 73615301, 73615363-73615369, 73615393-73615440, 73615474, 73615486, 73615492, 73615499-73615503, 73615507, 73615512, 73615577, 73615581, 73615585-73615599, 73615627-73615668, 73615720-73615746, 73615778, 73615888, 73615924-73615930, 73615967-73615976, 73615985-73616114, 73616158, 73616161, 73616164-73616190, 73616194, 73616206, 73616284, 73616545, 73616556, 73617647, 73624513-73624525, 73624536, 73659858, 73659861-73659863, 73659866, 73660066-73660611
336MPI150.994496855345917127275188660-75188666
337FAH150.999206349206351126080472530
338RPS17150.99754901960784140883208789
339POLG150.97016129032258111372089871972-89871979, 89876597-89876628, 89876684, 89876689, 89876817-89876821, 89876824-89876830, 89876836-89876854, 89876857-89876869, 89876907-89876924, 89876945-89876946, 89876949-89876953
340MESP2150.81742043551089218119490319646, 90319728, 90319731, 90319734-90319738, 90319770-90319817, 90319931, 90319936-90319939, 90319952-90319965, 90319969-90320045, 90320047-90320052, 90320055, 90320058, 90320088-90320107, 90320121-90320149, 90320159-90320163, 90320250, 90320260-90320261, 90320286
341VPS33B150.999460625674221185491565412
342IGF1R150.9768518518518595410499192819-99192904, 99473516-99473524
343HBZ160.42890442890443245429203891-204095, 204271-204293, 204321-204322, 204328, 204331, 204335-204341, 204394-204399
344HBM160.6924882629108131426216068-216072, 216077, 216275-216277, 216288, 216297, 216311-216314, 216318-216319, 216325-216334, 216339-216341, 216353-216365, 216371-216458
345HBA2160.8927738927738946429222922, 222948-222979, 223201, 223216-223225, 223239, 223243
346GNPTG160.94444444444444519181401967-1402017
347CLCN7160.910669975186121624181497071-1497087, 1497394, 1497541, 1497547-1497550, 1497552, 1497555, 1500538, 1500541, 1500548, 1500575, 1500616-1500622, 1500630-1500661, 1506146, 1506149-1506151, 1506158-1506160, 1524835-1524975
348IGFALS160.8985507246376819619321840882-1840889, 1840993, 1841017-1841025, 1841037-1841044, 1841063, 1841110-1841112, 1841135-1841138, 1841141-1841145, 1841231-1841239, 1841247-1841250, 1841255-1841290, 1841338-1841349, 1841403-1841411, 1841422, 1841449-1841451, 1841529, 1841637-1841638, 1841785, 1841823-1841849, 1841961-1841971, 1841974-1841975, 1841978-1841983, 1842068-1842072, 1842075-1842080, 1842090-1842093, 1842096-1842098, 1842327, 1842332, 1842339, 1842349, 1842352, 1842366-1842367, 1842385, 1842391-1842397
349GFER160.582524271844662586182034220-2034477
350TSC2160.987831858407086654242103361, 2103381-2103386, 2103392, 2103396-2103403, 2103411, 2103416, 2103421-2103422, 2103425, 2106675, 2106758, 2112568-2112574, 2121847-2121856, 2121861, 2121866, 2121870-2121872, 2124335-2124336, 2124347-2124357, 2124360, 2124371, 2129646, 2136339, 2136365-2136367, 2136782
351PKD1160.813274473358122411129122139801-2139802, 2139839-2139845, 2139852, 2139855, 2139868-2139907, 2139913-2139932, 2140045-2140046, 2140677, 2140682-2140683, 2140755-2140773, 2140792-2140803, 2140912-2140917, 2140930-2140932, 2140940-2140948, 2140950-2140951, 2140985-2140986, 2140994-2141002, 2141006-2141014, 2141034, 2141052-2141175, 2141424-2141483, 2141495-2141516, 2141537-2141546, 2141549-2141560, 2141566-2141598, 2141784-2141786, 2141789, 2141798-2141823, 2142529, 2143625, 2144155-2144157, 2147149-2147151, 2147154, 2147187, 2147193-2147196, 2147381, 2147397, 2147444-2147451, 2147946-2147985, 2149726-2149727, 2149742-2149745, 2149767-2149771, 2149965, 2149969, 2149993, 2150019-2150025, 2150045-2150072, 2150554-2150567, 2152243-2152257, 2153267-2153306, 2153325, 2153369-2153377, 2153395, 2153465, 2153472, 2153478, 2153666-2153737, 2153747-2153784, 2153863, 2153871, 2154547-2154643, 2155330-2155378, 2155906-2155931, 2156240-2156283, 2156442-2156474, 2156498-2156526, 2156656-2156678, 2156807-2156824, 2156935, 2158274-2158307, 2158407-2158409, 2158413, 2158530-2158533, 2158536, 2158558-2158590, 2158732, 2158752, 2158772, 2158783-2158788, 2158803, 2158822, 2158839, 2158849, 2158864-2158870, 2158916-2158956, 2159019, 2159096-2159099, 2159118-2159150, 2159177, 2159184, 2159220-2159246, 2159268-2159292, 2159389-2159409, 2159441-2159445, 2159449-2159452, 2159456-2159463, 2159473-2159483, 2159553, 2159636-2159648, 2159792-2159811, 2159960-2159966, 2160074, 2160137, 2160454, 2160458, 2160677-2160691, 2160714-2160733, 2160769-2160775, 2161309, 2161325, 2161464-2161475, 2161737-2161747, 2161806-2161837, 2162832-2162834, 2163179, 2164212-2164244, 2164441, 2164444, 2164448, 2164454, 2164488, 2164802-2164812, 2164919-2164925, 2165379-2165402, 2165501-2165507, 2165543-2165544, 2166581-2166588, 2166834-2166861, 2166869-2166870, 2166895-2166896, 2166909, 2166923-2166925, 2166950-2166995, 2167044, 2167545-2167568, 2167668-2167673, 2167799, 2167803, 2167829-2167877, 2167903, 2167918-2168003, 2168030-2168046, 2168055-2168087, 2168127-2168218, 2168226-2168246, 2168276, 2168287-2168431, 2168459-2168463, 2168715-2168716, 2168735-2168755, 2169339-2169356, 2185476-2185690
352ABCA3160.996676441837731751152331175, 2334355, 2338059-2338063, 2338073-2338077, 2338086, 2338089-2338091, 2339546
353MEFV160.96163682864459023463304408-3304410, 3304472, 3304503-3304505, 3304509-3304515, 3304520-3304521, 3304555, 3304560, 3304622-3304635, 3304643-3304700
354SLX4160.993823796548593455053632398-3632407, 3632458, 3632463-3632464, 3632583-3632585, 3632589, 3632594-3632598, 3633310, 3639363, 3639574, 3639815, 3639872, 3639875, 3639999, 3642718, 3642809-3642812
355CREBBP160.9072179014872468073293777738-3777799, 3778105-3778149, 3778345-3778367, 3778391-3778392, 3778403-3778470, 3778556-3778605, 3778788-3778842, 3778877-3778925, 3778949-3778955, 3778960-3778972, 3778985-3778987, 3778991-3778993, 3779011-3779013, 3779022, 3779034, 3779038-3779052, 3779055, 3779072-3779076, 3779112, 3779171-3779248, 3779273, 3779276, 3779279, 3779315-3779320, 3779340-3779341, 3779345, 3779417-3779421, 3779441-3779453, 3779457-3779496, 3779705-3779736, 3781843, 3786149, 3831233-3831238, 3929833-3929917
356GLIS2160.951111111111117715754385160-4385162, 4386814, 4386817, 4386823, 4386976-4386978, 4386984-4386986, 4386992-4386993, 4387051-4387060, 4387086-4387118, 4387160-4387162, 4387188-4387190, 4387197, 4387201-4387202, 4387205-4387208, 4387364, 4387368-4387372, 4387375
357ALG1160.8681003584229418413955121855-5121861, 5127938, 5128818-5128872, 5130958-5130999, 5131009-5131057, 5134809-5134833, 5134878-5134882
358PMM2160.97975708502024157418891756-8891765, 8891800-8891804
359MYH11160.999494949494953594015811105, 15811108, 15811197
360ABCC6160.9824911347517779451216308229-16308235, 16313792, 16315654-16315688, 16317256-16317291
361UMOD160.9656786271450966192320359859-20359898, 20360133-20360140, 20360151-20360157, 20360162, 20360267, 20360276, 20360314, 20360325-20360331
362OTOA160.9941520467836320342021696580, 21696601, 21696615, 21696632-21696634, 21742176-21742182, 21747694-21747700
363SCNN1B160.996359854394187192323359946, 23387169-23387171, 23391912-23391913, 23391916
364COG7160.996973627323827231323415074-23415079, 23415097
365CLN3160.9802581624905126131728497675-28497682, 28497687-28497689, 28497703-28497704, 28497707, 28497713-28497716, 28499966, 28499970-28499976
366TUFM160.9678362573099444136828857321, 28857400-28857402, 28857409-28857415, 28857552-28857583, 28857590
367ATP2A1160.9856952761144443300628912097-28912103, 28912112-28912114, 28912118-28912141, 28912146, 28912149-28912156
368CD19160.998204667863553167128948372, 28948376-28948377
369PHKG2160.9221949221949295122130760142-30760236
370VKORC1160.973577235772361349231105921-31105933
371FUS160.995572422517397158131195279, 31195293-31195294, 31195582, 31195591-31195593
372SLC5A2160.9737493808816253201931499810-31499811, 31499943-31499951, 31500037, 31500041-31500068, 31500073, 31500444-31500448, 31501752-31501758
373PHKB160.999695307739181328247545593
374NOD2160.9593339737432127312350733449-50733461, 50733510, 50744754-50744760, 50744990-50745003, 50745219, 50745368, 50745394-50745398, 50745419-50745424, 50745434-50745437, 50745485, 50745490-50745494, 50745519-50745520, 50745809-50745830, 50745839-50745850, 50745861-50745892, 50746184
375CYLD160.999650593990221286250785758
376SALL1160.9768553459119592397551175418-51175424, 51175456, 51175462-51175465, 51175487, 51175645-51175646, 51175654-51175691, 51175710, 51175714, 51185077-51185113
377RPGRIP1L160.9969604863221912394853679567-53679570, 53679573, 53679577, 53679581-53679582, 53679630, 53679633-53679635
378MMP2160.9546142208774690198355513392-55513450, 55513462-55513488, 55513530-55513533
379SLC12A3160.999676689298421309356921902
380COQ9160.99895506792059195757481423
381CNGB1160.999733759318421375657918248
382TK2160.987012987012991292466583857-66583859, 66583867, 66583870-66583875, 66583903, 66584014
383HSD11B2160.69786535303777368121867465152-67465342, 67465358-67465368, 67465379-67465392, 67465396-67465398, 67469967-67470032, 67470039-67470045, 67470245, 67470248-67470250, 67470270, 67470273, 67470277, 67470284-67470286, 67470289, 67470517-67470544, 67470561-67470567, 67470662, 67470669-67470680, 67470685-67470701
384LCAT160.9879062736205616132367974108, 67976487, 67976852, 67976879, 67977001-67977004, 67977007, 67977043, 67977110-67977115
385CDH3160.9771084337349457249068679551-68679590, 68679616, 68679619-68679620, 68679624-68679637
386CDH1160.9890524726311829264968771332-68771337, 68771344-68771359, 68771362-68771365, 68863592-68863594
387COG8160.92224034801523143183969364755-69364783, 69364833, 69364856, 69364861, 69364874-69364876, 69373079-69373093, 69373097, 69373107-69373111, 69373118, 69373121-69373125, 69373131-69373135, 69373209-69373245, 69373257-69373286, 69373328, 69373353, 69373387, 69373394-69373395, 69373402-69373403, 69373411, 69373424
388HP160.9598689598689649122172092153-72092178, 72093014-72093036
389GCSH160.839080459770118452281129736-81129738, 81129773, 81129789, 81129805-81129883
390GAN160.90635451505017168179481348719-81348885, 81388218
391MLYCD160.67948717948718475148283932750-83933204, 83933213, 83933216-83933221, 83933226-83933228, 83933231-83933240
392LRRC50160.9885215794306725217884179059-84179061, 84179065-84179068, 84179076, 84179082-84179086, 84179167-84179169, 84199399-84199400, 84199440, 84199443-84199448
393FOXF1160.65877192982456389114086544176-86544238, 86544254-86544285, 86544291-86544311, 86544386-86544420, 86544486-86544524, 86544552-86544556, 86544568-86544575, 86544577, 86544583-86544609, 86544621-86544626, 86544663-86544689, 86544700-86544743, 86544786-86544792, 86544855, 86544858-86544866, 86544881, 86544887-86544889, 86544911-86544914, 86544932-86544934, 86544937-86544940, 86544948-86544979, 86544986-86544987, 86544995-86545004, 86545014-86545018
394FOXC2160.4667994687915803150686601048, 86601052-86601053, 86601060-86601062, 86601096-86601139, 86601321-86601327, 86601346-86601370, 86601373, 86601386, 86601429-86601465, 86601473-86601522, 86601561-86601562, 86601564-86601568, 86601573-86601577, 86601593-86601596, 86601601-86601607, 86601616-86602203, 86602291, 86602361-86602366, 86602371-86602384
395JPH3160.85536270583325224787636856, 87636912-87636925, 87636999-87637005, 87637024-87637052, 87678154-87678157, 87717782, 87717808, 87723268-87723311, 87723333-87723353, 87723375, 87723413-87723414, 87723420-87723425, 87723430-87723445, 87723496-87723499, 87723512-87723515, 87723526-87723532, 87723541-87723586, 87723596, 87723599, 87723610-87723615, 87723621, 87723625, 87723641, 87723644-87723652, 87723656, 87723660-87723668, 87723671-87723673, 87723676-87723683, 87723694-87723695, 87723706-87723709, 87723716, 87723720-87723753, 87723757, 87723763-87723764, 87723983-87724014
396CYBA160.7514758888709770-88709772, 88709775-88709793, 88709803-88709807, 88709810, 88709823, 88709825-88709829, 88709833-88709837, 88709843, 88709851-88709859, 88709878-88709902, 88709932, 88709938-88709955, 88709963-88709976, 88712543, 88712560-88712564, 88712576, 88712585, 88712589, 88712593, 88712597-88712598, 88717369-88717377, 88717383-88717392, 88717399-88717407
397APRT160.959484346224682254388876227-88876233, 88877978, 88878266, 88878270, 88878273, 88878297-88878307
398GALNS160.91969407265774126156988884483, 88884486-88884488, 88893166-88893167, 88923166-88923285
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508ADAMTS10190.9450483091787418233128645786-8645788, 8649812, 8649888-8649927, 8650016-8650019, 8650025, 8650028-8650035, 8650062-8650066, 8650069, 8650090-8650110, 8650119-8650124, 8650143, 8650175-8650176, 8650363, 8650392, 8650446, 8650452-8650458, 8650465, 8650468-8650493, 8650509-8650510, 8654147-8654149, 8654217-8654221, 8654234-8654240, 8654429-8654444, 8654461-8654469, 8656906, 8670106-8670112, 8670115, 8670170
509TYK2190.96717171717172117356410463180, 10463602-10463638, 10463651-10463670, 10463681, 10463720-10463745, 10463755-10463757, 10463760, 10464217, 10475290-10475311, 10476388-10476390, 10476394-10476395
510DNM2190.92652123995408192261310828919-10829079, 10939712-10939719, 10940865-10940868, 10940872-10940873, 10940879-10940891, 10940915-10940916, 10941675-10941676
511LDLR190.999612853271391258311200275
512PRKCSH190.9817265280403329158711557101, 11557943, 11558264-11558266, 11558275, 11558343-11558354, 11558510-11558516, 11558519, 11558524-11558526
513MAN2B1190.94762845849802159303612758085, 12758347-12758348, 12758351, 12758355-12758359, 12758366, 12758383-12758390, 12758403, 12758411-12758412, 12758989-12758994, 12759000-12759035, 12759062-12759074, 12759084, 12759088, 12759092-12759100, 12759141-12759148, 12759154-12759155, 12766585-12766586, 12767797, 12767853-12767855, 12767859-12767861, 12767865-12767870, 12768262, 12768265, 12768269-12768276, 12768280, 12768287-12768311, 12768329, 12768332-12768338, 12777455-12777457
514GCDH190.993166287015959131713002151-13002159
515CACNA1A190.824624385055181319752113318176-13318178, 13318182, 13318187, 13318190-13318197, 13318208-13318213, 13318234-13318867, 13319599-13319608, 13319619-13319625, 13319628-13319637, 13319692-13319694, 13320173-13320175, 13320182-13320183, 13409358-13409371, 13409404-13409448, 13409457-13409665, 13409799-13409804, 13409809, 13409814-13409817, 13409824, 13409828-13409834, 13409842-13409846, 13409857-13409902, 13616746-13617038
516NOTCH3190.88386448463968809696615271517-15271519, 15271867-15271870, 15271882, 15271938-15271939, 15271944-15271951, 15271979-15271980, 15271991, 15272003, 15272010, 15272020-15272023, 15272040, 15272045, 15272064-15272065, 15272068, 15272082-15272139, 15272157, 15272184, 15272191, 15272203-15272209, 15272212-15272222, 15272225-15272227, 15272267-15272269, 15272273, 15272277, 15272319-15272350, 15272473, 15272487, 15272503, 15280920, 15281152-15281186, 15281195-15281203, 15281249-15281255, 15281304-15281351, 15281482-15281506, 15281525-15281527, 15281545, 15281552-15281554, 15281578-15281583, 15281594, 15285079-15285096, 15285102, 15285109-15285111, 15288360, 15288415, 15288449-15288461, 15288533-15288868, 15288878-15288883, 15288888, 15288892-15288901, 15295723-15295726, 15296127-15296131, 15296140, 15296182, 15296189, 15296193, 15296197, 15296200, 15311606-15311716
517CYP4F22190.9774436090225636159615636313-15636348
518JAK3190.93866666666667207337517940923-17940924, 17940929-17940931, 17940947, 17940954-17940965, 17940971-17940982, 17940984, 17940993-17940998, 17941003-17941006, 17941024-17941027, 17941312-17941371, 17941380-17941385, 17941395-17941399, 17942143, 17942155, 17942162, 17942166, 17942181-17942185, 17942193, 17942196-17942202, 17942534-17942537, 17942542-17942545, 17945480, 17945486, 17945494-17945504, 17950361-17950364, 17950368-17950369, 17950383-17950386, 17953175, 17953187, 17953190, 17953193, 17953213, 17953225-17953231, 17953234-17953238, 17953242, 17953255, 17953299-17953301, 17953304-17953307, 17953310, 17953318, 17953321, 17953324, 17953331-17953342, 17953883
519SLC5A5190.9736024844720551193217983279, 17983283, 17984965, 17984971-17984985, 17984987-17984993, 17984996-17985000, 17986771-17986777, 17994524-17994526, 17994686-17994689, 17994692-17994693, 17999152, 17999158-17999161
520IL12RB1190.999497234791351198918191791
521COMP190.79375549692172469227418896500-18896539, 18896555-18896557, 18896572, 18898300-18898305, 18899049-18899088, 18899122, 18899125, 18899225-18899252, 18899256-18899264, 18899274-18899281, 18899297-18899314, 18899322-18899323, 18899401-18899405, 18899411-18899490, 18899493-18899499, 18899502-18899504, 18899513, 18899516, 18900016-18900053, 18900078, 18900751-18900890, 18900901-18900923, 18901371-18901377, 18901660, 18901675-18901679
522SLC7A9190.999316939890711146433350756
523CEBPA190.24883936861653809107733792327-33792330, 33792344-33792350, 33792428, 33792513-33792552, 33792564-33793320
524SCN1B190.950433705080554080735521725-35521764
525MAG190.976608187134544188135790591, 35790624, 35790646-35790649, 35790664, 35790732-35790753, 35791082-35791088, 35791124, 35791127, 35791130, 35791140-35791144
526PRODH2190.9757914338919939161136297711-36297712, 36297943-36297969, 36303098-36303099, 36303286-36303291, 36303317, 36303320
527NPHS1190.96511003757381130372636326635-36326644, 36336313-36336314, 36336391, 36336416, 36336430, 36336434, 36336598, 36336615, 36336620-36336622, 36336627-36336674, 36336679-36336686, 36336699, 36336910-36336921, 36337044-36337053, 36337057-36337064, 36337067-36337069, 36337074-36337088, 36339568, 36339571-36339572, 36339577
528TYROBP190.893805309734513633936398363, 36398370-36398371, 36398451-36398482, 36399105
529SDHAF1190.784482758620697534836486183, 36486198-36486213, 36486233-36486235, 36486242, 36486266-36486267, 36486271, 36486309, 36486314, 36486319, 36486340-36486351, 36486369-36486373, 36486398-36486427, 36486445
530WDR62190.9965004374453216457236546023, 36577610-36577611, 36590346, 36595746-36595752, 36595755, 36595758-36595761
531RYR1190.948865515644647731511738931385-38931404, 38931419, 38931440, 38931451, 38931501-38931502, 38943630-38943635, 38943639, 38943647, 38954152-38954157, 38955279-38955283, 38955286-38955291, 38956839, 38956886, 38956897, 38956906-38956909, 38956922, 38956925, 38976311-38976312, 38976367, 38976394, 38976420-38976426, 38976645, 38976651-38976664, 38976669, 38976711-38976715, 38976768, 38976780-38976786, 38985109, 38987509-38987512, 38987522-38987524, 38987527-38987530, 38990346-38990348, 38990453, 38990610-38990612, 38991280, 38993167-38993168, 38993175-38993176, 38993179, 38993208-38993210, 38993351-38993366, 38997475, 38997484-38997487, 38997504-38997505, 38998395-38998421, 38998425-38998434, 38998457, 39006767, 39008208-39008212, 39008215-39008217, 39008220, 39008233, 39008306-39008309, 39008317-39008319, 39013668-39013674, 39018337-39018340, 39034064-39034065, 39037085-39037106, 39037112-39037123, 39055616-39055625, 39055713-39055714, 39055723-39056178, 39056197-39056203, 39056209-39056210, 39056213-39056225, 39056228, 39056275, 39056288-39056295, 39056297-39056306, 39056309-39056310, 39056316-39056321, 39056353, 39075738
532ACTN4190.9722222222222276273639138430, 39138435, 39138442, 39138483-39138484, 39138495, 39138502-39138520, 39138524, 39138541-39138547, 39214257, 39214632, 39214649, 39214665, 39214842-39214861, 39214871, 39214874-39214879, 39214882, 39214896, 39214899-39214900, 39216460-39216464, 39216467-39216468, 39219954
533DLL3190.74959612277868465185739989848-39989856, 39993456-39993519, 39993526-39993681, 39993688-39993694, 39997795-39997921, 39997942-39997943, 39997946-39997951, 39997997-39998045, 39998051-39998068, 39998094-39998098, 39998134-39998144, 39998150-39998154, 39998236-39998241
534PRX190.96010031919745175438640900648-40900686, 40901098-40901119, 40901303-40901331, 40901604, 40901614, 40903426-40903431, 40904544, 40909625-40909653, 40909686-40909688, 40909706-40909725, 40909746-40909769
535TGFB1190.91133844842285104117341837010-41837012, 41837019, 41837024, 41837034-41837045, 41837049-41837068, 41837106-41837109, 41837114, 41854231-41854234, 41858681, 41858684, 41858739-41858744, 41858767-41858770, 41858776-41858800, 41858868, 41858919-41858937, 41858949
536BCKDHA190.998505231689092133841916562, 41929074
537ATP1A3190.91952147906471296367842471033-42471034, 42471040, 42471045-42471052, 42471079-42471085, 42471091-42471120, 42471154-42471160, 42471163, 42471169, 42471172-42471212, 42471307-42471310, 42471313, 42471318, 42471320-42471393, 42471419-42471420, 42471436-42471437, 42480574-42480635, 42480642-42480648, 42480651, 42480655, 42480671-42480693, 42480698, 42480702-42480709, 42489259, 42489263-42489264, 42489326, 42492095, 42498223-42498228
538ETHE1190.954248366013073576544012096-44012097, 44012147, 44031259-44031290
539BCAM190.92103868574457149188745312382-45312407, 45312421-45312442, 45314509-45314511, 45315436, 45315439, 45321861-45321868, 45323962-45323985, 45323991-45323995, 45324014-45324024, 45324029-45324040, 45324043-45324044, 45324046-45324073, 45324173-45324178
540APOE190.6886792452830229795445411797, 45411801-45411804, 45411875-45411880, 45411904-45411931, 45411934-45411946, 45411961-45412023, 45412029-45412046, 45412068-45412071, 45412073-45412083, 45412101-45412111, 45412114-45412115, 45412117-45412127, 45412129, 45412134, 45412147-45412154, 45412157, 45412162, 45412173-45412175, 45412177-45412178, 45412183-45412189, 45412191-45412249, 45412255-45412256, 45412260, 45412332, 45412338-45412354, 45412371-45412379, 45412411-45412413, 45412416-45412422, 45412427, 45412433
541BLOC1S3190.4417077175697934060945682581, 45682585, 45682589, 45682695-45682715, 45682744, 45682749-45682784, 45682792, 45682795-45682801, 45682821-45683077, 45683085-45683097, 45683108
542ERCC2190.94656154183092122228345856390-45856394, 45856397, 45867001-45867009, 45867026, 45867029-45867034, 45867058-45867059, 45867064, 45867086, 45867114-45867117, 45867141-45867169, 45867279-45867321, 45867350-45867363, 45873464, 45873475, 45873490, 45873796-45873798
543OPA3190.99447513812155354346032420, 46032424, 46032627
544SIX5190.72972972972973600222046269219-46269222, 46269227-46269231, 46269311-46269315, 46269922-46269929, 46270012-46270013, 46270139, 46270142-46270144, 46270154-46270155, 46270160-46270165, 46270194-46270195, 46271300-46271315, 46271419-46271436, 46271447-46271475, 46271561-46271623, 46271634-46271676, 46271710-46272102
545DMPK190.8957671957672197189046273755-46273758, 46273761, 46273790, 46273810, 46273830, 46274260-46274264, 46274271-46274304, 46285461-46285610
546FKRP190.60215053763441592148847258713, 47258738, 47258742, 47258772-47258778, 47258813-47258833, 47258840, 47258842, 47258901-47258907, 47258973-47258974, 47259039-47259052, 47259055, 47259062-47259067, 47259073, 47259081, 47259090-47259096, 47259109, 47259121-47259123, 47259128-47259134, 47259144-47259201, 47259215-47259529, 47259536-47259538, 47259546, 47259549, 47259578-47259579, 47259594, 47259599, 47259612-47259630, 47259633-47259686, 47259697, 47259713-47259716, 47259721-47259723, 47259728-47259735, 47259748-47259766, 47259826-47259830, 47260051, 47260063-47260070, 47260104-47260106, 47260109-47260110
547CRX190.986666666666671290048342662-48342673
548DBP190.679959100204531397849138837-49139021, 49139031, 49139037-49139038, 49139042-49139045, 49139049-49139054, 49139057-49139096, 49139108-49139109, 49139120-49139125, 49139133-49139138, 49139149, 49139155-49139159, 49139220-49139243, 49140183-49140213
549FTL190.99621212121212252849469119-49469120
550GYS1190.996386630532978221449472673-49472680
551MED25190.94607843137255121224450321624-50321625, 50321628-50321632, 50321701-50321707, 50332239-50332241, 50333121-50333136, 50333149-50333177, 50333359-50333365, 50333775-50333785, 50333834, 50334102-50334109, 50334114-50334116, 50334126-50334133, 50334644-50334645, 50335399, 50335411-50335413, 50338430, 50339492-50339494, 50339526, 50339529-50339530, 50339536-50339538, 50339544-50339546, 50339559, 50339562
552PNKP190.87292464878672199156650364505-50364515, 50364608, 50364865-50364885, 50364925, 50364928, 50365029-50365033, 50365128-50365138, 50365331, 50365496-50365538, 50365628-50365645, 50365814-50365815, 50365826-50365832, 50365834, 50365841-50365865, 50365947-50365995, 50370354-50370355
553MYH14190.9662902961872206611150713642-50713648, 50713662, 50713667-50713678, 50713683-50713686, 50713711-50713712, 50713725-50713731, 50713734-50713741, 50713747-50713748, 50713752-50713754, 50713792, 50713891-50713899, 50713951, 50713955, 50713959-50713962, 50714015, 50714027, 50733800, 50733848, 50762411-50762429, 50762432, 50762435-50762441, 50764885-50764891, 50770147, 50770214-50770256, 50780116-50780157, 50781400-50781407, 50789897-50789901, 50796512, 50796515, 50796924, 50796931-50796933, 50812940
554KCNC3190.535180299032541057227450823503-50823600, 50823850-50823852, 50823858, 50823954, 50823999-50824034, 50826261, 50826264, 50826272, 50826349-50826353, 50826360-50826361, 50826366-50826368, 50826374-50826384, 50826405, 50826411-50826423, 50826428, 50826438-50826441, 50826447-50826451, 50826457, 50826459-50826460, 50826539-50826540, 50826554, 50826560-50826562, 50831474-50832079, 50832085-50832339
555KLK4190.979084967320261676551411898, 51412557-51412559, 51412583-51412586, 51412589, 51412603, 51412618-51412621, 51412657, 51412666
556ETFB190.9750240153698426104151857408-51857433
557NLRP12190.9896421845574433318654312939-54312947, 54313631, 54313660-54313668, 54313845-54313855, 54313861-54313862, 54314385
558PRKCG190.84670487106017321209454385749-54385752, 54385759-54385826, 54385881-54385887, 54385899-54385918, 54387475, 54387479, 54387494, 54392904, 54392908, 54392921-54393003, 54393140-54393165, 54393175, 54393193-54393201, 54393204-54393271, 54403976, 54409670-54409671, 54409973, 54409979-54409994, 54410000, 54410005-54410007, 54410010-54410015
559PRPF31190.999333333333331150054627879
560TSEN34190.939978563772785693354695241-54695245, 54695276-54695277, 54695285-54695292, 54695304, 54695307-54695310, 54695313-54695315, 54695324, 54695328-54695332, 54695334-54695335, 54695341, 54695343-54695345, 54695353-54695365, 54695375-54695382
561NLRP7190.9836223506743751311455450730-55450731, 55450736-55450738, 55450741-55450749, 55450950-55450979, 55451167-55451173
562TNNT1190.8719898605830210178955648522-55648525, 55648538, 55648542-55648545, 55648551-55648554, 55652266-55652328, 55657802-55657816, 55657831-55657834, 55658051, 55658060, 55658075, 55658376-55658378
563TNNI3190.8177339901477811160955667580-55667639, 55667643-55667651, 55667661-55667700, 55668418, 55668427
564TPO20.90685224839426128021480867-1480951, 1480961-1480976, 1481005-1481009, 1481021, 1481031-1481080, 1481095-1481158, 1481199, 1481215-1481227, 1481231, 1481251-1481252, 1481272, 1481275-1481278, 1481290-1481292, 1481298-1481299, 1481372-1481376, 1488525-1488531, 1497644
565RPS720.94188034188034345853623216-3623240, 3623257-3623262, 3623265-3623267
566KLF1120.9727095516569242153910183844-10183885
567LPIN120.997381219603447267311925077-11925083
568MYCN20.7741935483871315139516082187-16082195, 16082303, 16082306, 16082363-16082368, 16082389, 16082392-16082402, 16082461-16082463, 16082467-16082469, 16082472, 16082478-16082480, 16082486, 16082489-16082490, 16082505, 16082541-16082544, 16082548, 16082555, 16082558-16082580, 16082586-16082589, 16082596, 16082633-16082857, 16082872-16082879, 16082893-16082897
569MATN320.88843258042437163146120212180-20212187, 20212204-20212206, 20212213-20212222, 20212225-20212236, 20212241-20212251, 20212274-20212392
570APOB20.99401110137306821369221266736-21266817
571POMC20.8358208955223913280425384071-25384075, 25384140-25384188, 25384235-25384242, 25384314-25384331, 25384387-25384398, 25384406-25384408, 25384412-25384416, 25384439-25384467, 25384494-25384496
572HADHA20.999127399650962229226417962-26417963
573OTOF20.95045045045045297599426684580, 26684990, 26690041, 26695389-26695391, 26696882, 26696934-26696948, 26696959-26696969, 26697381-26697385, 26697392-26697426, 26697436, 26697498-26697505, 26697516-26697532, 26699126, 26699153-26699162, 26699759-26699911, 26700083-26700090, 26700100-26700109, 26700117-26700131, 26700547
574C2orf7120.981898112231770386729287814, 29287871, 29287882, 29287919-29287922, 29293641-29293681, 29293697-29293703, 29294053-29294056, 29295333, 29295440-29295449
575ALK20.9874563026938161486329451781-29451789, 30143240-30143253, 30143406, 30143426-30143442, 30143445-30143448, 30143451-30143458, 30143467, 30143475, 30143492-30143495, 30143499, 30143524
576XDH20.998500749625196400231560612, 31560628, 31609376-31609379
577SRD5A220.968503937007872476231805847-31805852, 31805859, 31805878, 31805888-31805893, 31805903-31805906, 31805922-31805927
578SPAST20.82549972987574323185132288946-32288947, 32288951, 32288964, 32288997-32289315
579CYP1B120.87254901960784208163238301681, 38301774-38301777, 38301923-38301929, 38301933, 38301939-38301944, 38301951-38301960, 38301963-38301964, 38301968, 38301971-38301976, 38301983-38302001, 38302007-38302008, 38302023-38302026, 38302050-38302052, 38302055-38302056, 38302074-38302104, 38302142-38302182, 38302192-38302199, 38302203-38302206, 38302212, 38302216-38302220, 38302222-38302228, 38302235-38302236, 38302239-38302245, 38302275-38302280, 38302286-38302292, 38302296-38302297, 38302307-38302312, 38302381, 38302385-38302386, 38302389-38302390, 38302393, 38302415-38302416, 38302419, 38302430-38302431, 38302438, 38302441
580ABCG520.9800613496932539195644058920, 44058936-44058941, 44058950-44058955, 44058958-44058961, 44058966, 44058969-44058971, 44058974, 44058980-44058987, 44059126, 44059132-44059133, 44059172, 44059198, 44059214, 44059220-44059222
581ABCG820.999010880316522202244102368, 44102371
582LRPPRC20.9918757467144634418544222956, 44223038-44223061, 44223067, 44223070-44223077
583SIX320.7407407407407425999945169309-45169310, 45169321-45169399, 45169420-45169461, 45169508, 45169522, 45169525-45169543, 45169548, 45169566-45169591, 45169613-45169617, 45169640-45169650, 45169781-45169816, 45169864, 45170029-45170035, 45171745-45171748, 45171751-45171760, 45171773, 45171776, 45171789-45171792, 45171800-45171802, 45171804-45171808
584EPCAM20.988359788359791194547596688-47596690, 47596693-47596699, 47596706
585MSH220.9957219251336912280547630438-47630440, 47630455, 47630458-47630461, 47639565-47639568
586MSH620.93632133235366260408348010373-48010632
587LHCGR20.9771428571428648210048982733-48982734, 48982737, 48982739-48982746, 48982751, 48982757-48982792
588NRXN120.95367231638418205442550149346, 50765567-50765584, 51254647-51254649, 51254679, 51254764-51254767, 51254772-51254775, 51254791-51254797, 51254807-51254838, 51254841, 51254911-51254915, 51254922-51254924, 51254938-51254945, 51254983, 51255035-51255042, 51255109-51255137, 51255152-51255162, 51255219-51255231, 51255268-51255292, 51255326-51255327, 51255345-51255356, 51255372-51255375, 51255383-51255385, 51255389, 51255398-51255404, 51255409-51255410
589EFEMP120.995951417004056148256094280, 56144946, 56144992-56144995
590PEX1320.997524752475253121261244910-61244912
591ATP6V1B120.9909208819714714154271163085-71163086, 71163129-71163130, 71191597-71191604, 71192237-71192238
592DYSF20.9896226415094366636071693973-71693987, 71694016-71694051, 71753413, 71753428, 71753456-71753460, 71753469-71753476
593SPR20.6259541984732829478673114562-73114855
594ALMS120.99376199616123781250473612997-73613050, 73613055-73613058, 73613061-73613064, 73613089, 73613091-73613095, 73613112, 73613115, 73613161, 73613198-73613200, 73613204, 73613267, 73613273, 73613283
595SLC4A520.9947275922671418341474460602-74460609, 74513009-74513010, 74513016-74513019, 74513026-74513029
596DCTN120.9916601511597632383774590488, 74590513, 74595148, 74596527, 74596530-74596532, 74598108-74598132
597MOGS20.9868735083532233251474688891-74688892, 74689002, 74690039-74690040, 74690043, 74690046, 74692103-74692118, 74692164, 74692168, 74692349-74692353, 74692356-74692358
598HTRA220.88307915758896161137774757134-74757162, 74757215-74757262, 74757351-74757353, 74757364-74757368, 74757373, 74757377-74757380, 74757386-74757389, 74757392-74757395, 74757437-74757479, 74757510-74757515, 74757519-74757520, 74757525-74757536
599GGCX20.9846288976723835227785781402, 85782640-85782641, 85785693, 85788521-85788551
600SFTPB20.998254799301922114685895285-85895286
601REEP120.947194719471953260686564602-86564633
602EIF2AK320.94538943598926183335188926565-88926573, 88926597-88926632, 88926640-88926649, 88926658-88926761, 88926769-88926792
603RPIA20.99145299145299893688991293-88991300
604TMEM12720.87447698744779071796930877, 96930890-96930898, 96930905-96930917, 96930925-96930933, 96930963-96930967, 96931024-96931028, 96931058, 96931073-96931119
605SNRNP20020.9982841990329111641196954848, 96970519-96970528
606ZAP7020.9645161290322666186098340500-98340501, 98340605, 98340610-98340625, 98340710, 98340728, 98340731-98340734, 98340748-98340776, 98340828, 98340831-98340832, 98340838, 98340846-98340849, 98349763-98349766
607RANBP220.981395348837211809675109336063-109336076, 109336092-109336098, 109336131-109336134, 109352592-109352598, 109357110-109357116, 109367756-109367762, 109367871, 109368061-109368067, 109368104-109368119, 109368327-109368342, 109370398, 109371656-109371662, 109382787-109382793, 109383027-109383064, 109383268-109383275, 109383315-109383321, 109384469, 109384628-109384634, 109384785, 109399122, 109399129-109399132, 109399136-109399143, 109399156-109399158, 109399161
608NPHP120.9995083579154412034110917730
609MERTK20.97966666666667613000112656313-112656373
610PAX820.9948263118994871353113994221-113994227
611GLI220.824616677168668354761121555017, 121555024-121555034, 121708971, 121708996, 121709002, 121709007-121709012, 121712939-121712944, 121712947, 121712951, 121712969-121712970, 121712974, 121713001, 121726328, 121726333, 121726447-121726450, 121728013-121728014, 121728020, 121728139, 121728152-121728154, 121729603-121729608, 121729612, 121729615-121729617, 121729635-121729639, 121745817-121745823, 121745829, 121745834-121745838, 121745875, 121745904-121745912, 121745930, 121745946-121745949, 121746016, 121746020-121746022, 121746034, 121746040-121746050, 121746072-121746559, 121746566, 121746645-121746656, 121746662, 121746681-121746720, 121746773-121746779, 121746790-121746793, 121746796-121746799, 121746804-121746818, 121746828-121746874, 121746973-121746975, 121747061-121747064, 121747081, 121747085, 121747165-121747200, 121747234-121747254, 121747384, 121747399-121747407, 121747426-121747430, 121747476-121747479, 121747504-121747510, 121747513-121747521, 121747564-121747570, 121747663-121747665
612BIN120.98204264870932321782127808405-127808410, 127808416, 127808419-127808424, 127808766-127808784
613PROC20.852813852813852041386128178863, 128178872-128178873, 128178878, 128178904-128178907, 128178952-128178962, 128180493-128180517, 128180610-128180747, 128180850-128180860, 128180868-128180871, 128180877, 128180883, 128180892-128180893, 128180917-128180918, 128180921
614CFC120.73363095238095179672131279059-131279060, 131279080, 131279681, 131280363-131280477, 131280749, 131280780-131280781, 131280800-131280824, 131285303-131285334
615LCT20.9998271092669415784136590746
616MCM620.98986212489862252466136616961-136616962, 136616977-136616980, 136633875-136633880, 136633892-136633896, 136633901-136633905, 136633922-136633924
617ZEB220.97997256515775733645145274845-145274917
618MMADHC20.998877665544331891150438746
619NEB20.996946029838796119974152432665-152432675, 152432716, 152432747-152432750, 152432761-152432772, 152432778, 152432785-152432787, 152432792, 152432843-152432868, 152512813, 152512816
620CACNB420.9961612284069161563152955479-152955484
621SCN2A20.99551345962114276018166171981-166171995, 166187955, 166210826-166210830, 166210834, 166211134-166211137, 166211141
622GALNT320.9957939011566881902166611521-166611527, 166621494
623SCN1A20.9993329998332545997166848710-166848713
624SCN9A20.99730367374452165934167060680-167060686, 167141115-167141119, 167141137-167141140
625ABCB1120.9997478567826513966169814583
626SLC25A1220.9980363279332442037172671672, 172750722-172750724
627ITGA620.944139194139191833276173292517-173292698, 173352466
628CHRNA120.9978165938864631374175618426-175618428
629CHN120.9978260869565231380175869638-175869640
630HOXD1320.626937984496123851032176957619-176957998, 176958049-176958051, 176958353-176958354
631AGPS20.97015680323723591977178257586-178257588, 178257597-178257630, 178257707-178257709, 178257735, 178257738-178257744, 178346859-178346861, 178346913-178346914, 178362436-178362440, 178362449
632PRKRA20.9532908704883244942179315693-179315736
633TTN20.99946133588754100248179392337-179392348, 179392353, 179392362, 179425469-179425475, 179447790, 179514941-179514945, 179514962-179514964, 179514985, 179534981-179534993, 179565847-179565848, 179596268-179596270, 179648459, 179648510, 179659684, 179666890, 179666893
634CERKL20.9993746091307111599182521607
635NEUROD120.9990662931839411071182543258
636COL3A120.98977505112474454401189854163-189854175, 189856940, 189856953-189856954, 189860418-189860425, 189860460-189860464, 189860861-189860864, 189870135, 189871663-189871671, 189872617, 189872662
637COL5A220.99894500189910593, 189916132, 189918651-189918657
638PMS120.9974991068238772799190718965-190718966, 190719208-190719209, 190728731-190728733
639MSTN20.9946808510638361128190926974-190926979
640STAT120.98890368397692252253191859796, 191859809-191859811, 191859814-191859815, 191859878, 191859881-191859883, 191859886, 191859895-191859906, 191859909-191859910
641CASP820.98948670377242171617202137422, 202149604-202149608, 202149629-202149635, 202149649-202149652
642ALS220.99698431845597154974202622413, 202622421-202622424, 202626273-202626276, 202626297-202626298, 202626390-202626393
643BMPR220.9977542508822673117203332303-203332309
644FASTKD220.99484294421003112133207652741-207652747, 207652750-207652751, 207652761, 207652764
645ACADL20.9945862335653571293211089911-211089916, 211089936
646ABCA1220.99345146379045517788215797430, 215807686-215807692, 215809819-215809825, 215854153-215854187, 215854342
647SMARCAL120.9972076788830782865217297521-217297522, 217297548-217297552, 217315614
648PNKD20.9948186528497461158219204584, 219204597-219204600, 219204848
649WNT10A20.845295055821371941254219745742-219745785, 219745794-219745799, 219745811-219745812, 219745816, 219757515-219757523, 219757533-219757540, 219757550, 219757612-219757615, 219757654, 219757658-219757669, 219757678-219757679, 219757684, 219757687-219757696, 219757698, 219757701-219757703, 219757706, 219757719-219757724, 219757752-219757758, 219757762, 219757766-219757791, 219757816-219757820, 219757849-219757861, 219757872-219757879, 219757890-219757909, 219757919-219757920
650DES20.832271762208072371413220283185-220283199, 220283213-220283219, 220283232, 220283238-220283255, 220283258-220283267, 220283277-220283279, 220283291-220283296, 220283300-220283301, 220283305-220283330, 220283340-220283342, 220283354-220283360, 220283372-220283375, 220283389-220283391, 220283399-220283403, 220283419, 220283422, 220283426-220283435, 220283442-220283470, 220283502-220283506, 220283520, 220283586-220283622, 220283641-220283651, 220283693-220283696, 220283707, 220283709-220283717, 220283721-220283738
651OBSL120.8227025127394110095691220416251-220416325, 220416337-220416344, 220416357-220416363, 220416394, 220416405, 220416432-220416435, 220416484, 220416488-220416489, 220416834-220416842, 220416858-220416860, 220416867, 220416883-220416914, 220417275-220417419, 220417592-220417620, 220417635, 220417736-220417743, 220432924-220432929, 220435105, 220435237, 220435240, 220435251-220435254, 220435258-220435260, 220435266, 220435272-220435275, 220435294-220435954
652PAX320.9980237154150231518223161889, 223163255, 223163259
653COL4A420.9980252764613105064227886792, 227920740-227920746, 227984623, 227985827
654COL4A320.98284460402952865013228029458-228029494, 228029507, 228029510-228029511, 228115883, 228137733, 228153946, 228162459, 228162462-228162463, 228163415, 228163476-228163503, 228163516-228163526
655CHRND20.99099099099099141554233390931-233390934, 233390937, 233390940-233390947, 233390951
656CHRNG20.98777348777349191554233405322-233405328, 233405336-233405341, 233405347, 233405351-233405352, 233407662, 233409593-233409594
657SAG20.999178981937611218234243652
658UGT1A120.99313358302122111602234668934-234668939, 234669069, 234669076, 234669081-234669083
659COL6A320.9985315712188149534238243370, 238243377-238243381, 238244864-238244866, 238244872, 238244887, 238249103, 238283443-238283444
660AGXT20.98303647158609201179241808308-241808319, 241808350, 241816993-241816997, 241817011-241817012
661D2HGDH20.808429118773953001566242674640-242674655, 242674692-242674733, 242674757-242674788, 242674856, 242695421, 242707158-242707163, 242707169, 242707184-242707384
662C20orf54200.98652482269504191410741776, 741779-741784, 741795-741805, 745972
663AVP200.288888888888893524953063276-3063448, 3063623-3063760, 3063773, 3063776-3063783, 3063793-3063824
664PANK2200.7898423817863436017133869775-3869793, 3869814-3869839, 3869867-3869880, 3869900-3870037, 3870049-3870052, 3870079, 3870086, 3870091-3870116, 3870121-3870136, 3870155-3870174, 3870182-3870220, 3870235-3870246, 3870262-3870275, 3870277-3870278, 3870286-3870290, 3870294, 3870297, 3870303-3870308, 3870311, 3870316, 3870319-3870323, 3870346-3870349, 3870362-3870363, 3870368-3870369
665PROKR2200.99826388888889211525283043-5283044
666FERMT1200.993117010816131420346100173-6100186
667JAG1200.96992070002734110365710639300-10639306, 10653467, 10653539-10653543, 10653547-10653549, 10653554, 10653561, 10653575, 10653578, 10653582, 10653634, 10653641, 10653649-10653654, 10654098-10654178
668C20orf7200.9855491329479815103813782191, 13782195-13782204, 13782215, 13782224-13782226
669THBD200.82349537037037305172823028414, 23028445-23028454, 23028644-23028646, 23028662, 23028673, 23029126-23029132, 23029193, 23029286-23029288, 23029292-23029297, 23029299-23029317, 23029323-23029325, 23029331-23029332, 23029376, 23029381, 23029384, 23029457-23029491, 23029498-23029545, 23029571-23029578, 23029582-23029584, 23029587-23029595, 23029606-23029636, 23029646-23029652, 23029691-23029697, 23029701-23029706, 23029717, 23029724-23029725, 23029748-23029754, 23029813-23029862, 23029876-23029880, 23029883-23029894, 23029901-23029908, 23030029, 23030071, 23030080, 23030108-23030110
670SNTA1200.83135704874835256151832000207-32000215, 32031160, 32031170-32031180, 32031192-32031426
671GDF5200.9415670650730488150634022387, 34022391, 34022397-34022404, 34025093-34025094, 34025116-34025148, 34025167-34025193, 34025281-34025284, 34025330-34025341
672SAMHD1200.995215311004789188135579850, 35579854, 35579879-35579885
673HNF4A200.995789473684216142543052770-43052775
674ADA200.9670329670329736109243255156-43255158, 43280216-43280248
675CTSA200.9672678690714849149744520230-44520277, 44523637
676SLC2A10200.994464944649459162645338376-45338379, 45354889-45354892, 45354895
677DPM1200.99744572158365278349557469, 49562277
678SALL4200.9927261227071523316250418824-50418831, 50418837, 50418839-50418846, 50418874, 50418886-50418889, 50418892
679VAPB200.909836065573776673256964516-56964573, 56993370-56993377
680STX16200.988752556237221197857244382-57244383, 57244387-57244392, 57244400-57244401, 57244404
681GNAS200.948509485094853873857415218-57415224, 57415233-57415238, 57415243, 57415322-57415332, 57415347, 57415355-57415357, 57415370, 57415373, 57415692-57415698
682GNAS200.88021836865767373311457428962-57428966, 57429086-57429093, 57429101-57429107, 57429341, 57429476, 57429482-57429487, 57429492, 57429495, 57429498-57429504, 57429510-57429513, 57429520-57429550, 57429652, 57429655, 57429663, 57429666, 57429674, 57429680-57429683, 57429688, 57429691-57429696, 57429725-57429726, 57429745-57429804, 57429828, 57429837-57429877, 57429915, 57429940-57429949, 57429955-57429956, 57429958-57429959, 57429962-57429963, 57429970, 57429991-57430006, 57430049-57430051, 57430061, 57430070, 57430075-57430077, 57430085, 57430100-57430143, 57430153-57430202, 57430250-57430282, 57430295-57430305
683EDN3200.965132496513252571757875885-57875897, 57875908-57875919
684COL9A3200.94501216545012113205561448417-61448494, 61448926-61448931, 61448935-61448937, 61448942-61448943, 61448946-61448948, 61448951, 61448955-61448964, 61448969, 61448981, 61448984-61448985, 61453973, 61461712, 61461900, 61468511, 61468520, 61468531
685CHRNA4200.94798301486298188461981123, 61981129, 61981132, 61981152-61981158, 61981237, 61981386-61981389, 61981430, 61981453, 61981467, 61981470, 61981536, 61981593-61981603, 61981607, 61981611, 61981614-61981618, 61981683-61981686, 61987421-61987424, 61992451-61992478, 61992483-61992500, 61992507-61992511, 61992515
686KCNQ2200.877052310042322261962038031, 62038057, 62038061, 62038068-62038069, 62038222-62038223, 62038349, 62038353-62038358, 62038372, 62038378, 62038408-62038409, 62038428, 62038494, 62038497, 62044881, 62044884-62044886, 62046347-62046354, 62046404-62046409, 62059756, 62103524-62103797, 62103809-62103816
687SOX18200.109090909090911029115562679522-62679541, 62679544-62679545, 62679643-62679646, 62679661-62679690, 62679701-62680315, 62680512-62680869
688APP210.9779507133592751231327542882-27542924, 27542931-27542938
689BACH1210.9909543193125320221130715024-30715025, 30715033, 30715048-30715054, 30715068, 30715072, 30715076-30715083
690SOD1210.98279569892473846533032104, 33032117-33032123
691IFNGR2210.9280078895463573101434775850-34775922
692RCAN1210.6455862977602126975935895882-35895888, 35895999-35896008, 35987059-35987310
693RUNX1210.92030492030492115144336164438-36164476, 36164503-36164510, 36164553, 36164587, 36164606-36164609, 36164614, 36164698-36164708, 36259216-36259219, 36259222, 36259293-36259295, 36259300-36259309, 36259316, 36259320-36259323, 36259356-36259379, 36259382-36259384
694CLDN14210.98888888888889872037833555, 37833559, 37833562, 37833978, 37833981, 37833984-37833986
695CBS210.99758454106284165644480627, 44480630, 44480650-44480651
696CSTB210.777777777777786629745196085-45196150
697AIRE210.77289377289377372163845705890-45706021, 45706460-45706494, 45706877, 45706884, 45706890, 45706970, 45706977-45706985, 45706994, 45709910, 45712883, 45712895-45712905, 45712914, 45712926-45712942, 45712998-45713012, 45713021-45713058, 45713725-45713726, 45713729, 45713792, 45714284-45714386
698ITGB2210.93290043290043155231046306753-46306758, 46306778-46306782, 46308608-46308727, 46308748, 46308753-46308754, 46308773-46308776, 46308781-46308782, 46308792, 46308797-46308810
699COL18A1210.87616334283001652526546875471-46875473, 46875476-46875479, 46875483-46875499, 46875502-46875509, 46875679, 46876243-46876267, 46876306, 46876313, 46876330, 46876384-46876443, 46876470-46876477, 46876482-46876485, 46876498-46876502, 46876514, 46876526-46876563, 46876577-46876585, 46876638-46876666, 46876717, 46888192, 46888206, 46888210, 46888216, 46888219-46888223, 46888237-46888239, 46888515-46888523, 46888628-46888641, 46888645-46888647, 46888656, 46900674, 46906815, 46906819, 46906828-46906849, 46906856, 46906860-46906874, 46906898-46906905, 46911139-46911145, 46911153-46911159, 46911175-46911177, 46911181-46911193, 46911220, 46911225-46911228, 46913080-46913081, 46913478-46913485, 46923925-46923926, 46923948, 46924426-46924434, 46925073, 46925104-46925152, 46925169, 46925288-46925298, 46925304, 46925314-46925315, 46925328-46925332, 46929315-46929316, 46929319, 46929332-46929338, 46929349-46929365, 46929441, 46929446-46929447, 46929450, 46929463, 46929467, 46929492-46929512, 46930014-46930015, 46930045-46930165, 46931081-46931084, 46932178-46932199, 46932207-46932224
700COL6A1210.96242306446388116308747401765-47401795, 47401800-47401803, 47401809-47401812, 47404276, 47404280-47404284, 47407556-47407559, 47410177, 47410292, 47410295-47410308, 47410319-47410321, 47410736, 47410739, 47419572-47419580, 47419587-47419595, 47419600, 47419604, 47422535-47422537, 47423488-47423491, 47423494, 47423503-47423512, 47423577-47423584
701COL6A2210.9421568627451177306047531393, 47531414-47531416, 47531419, 47531423-47531426, 47531429-47531440, 47531468-47531502, 47531896, 47536574-47536575, 47539010-47539016, 47539702-47539707, 47545759-47545762, 47545768, 47545772-47545785, 47545826, 47545864-47545868, 47545938, 47545941-47545942, 47545946, 47545969, 47545978-47545979, 47545982-47545983, 47551868-47551871, 47551998, 47552003, 47552012, 47552015, 47552032-47552034, 47552037-47552039, 47552163-47552165, 47552191-47552192, 47552198-47552200, 47552220-47552221, 47552282-47552289, 47552298-47552324, 47552385-47552393, 47552399, 47552404, 47552423
702COL6A2210.839181286549715534247552191-47552192, 47552198-47552200, 47552220-47552221, 47552282-47552289, 47552298-47552324, 47552385-47552393, 47552399, 47552404, 47552423, 47552475
703FTCD210.91389913899139140162647565335-47565360, 47565382-47565414, 47565425-47565430, 47565433-47565434, 47565438, 47565732-47565767, 47565770-47565773, 47565779, 47565790-47565793, 47565797, 47565803-47565808, 47565816-47565824, 47566224, 47566233, 47570157-47570158, 47571640, 47571880-47571882, 47574179-47574181
704PCNT210.971131755069422891001147744143-47744155, 47744163-47744196, 47775420, 47783689-47783730, 47783762, 47783765-47783768, 47783773, 47783795-47783796, 47786644, 47786663, 47786666-47786667, 47786675, 47786686-47786691, 47805840, 47805845-47805851, 47805862-47805872, 47811211, 47811214, 47818007, 47818013, 47818017, 47831281-47831313, 47831353-47831355, 47831358, 47831429-47831430, 47831446, 47831449-47831461, 47831465-47831477, 47831480-47831489, 47831783-47831790, 47832893-47832906, 47836687-47836688, 47836704-47836707, 47836752, 47850484, 47851839-47851840, 47851843, 47856014-47856020, 47856045-47856050, 47856057, 47858077-47858083, 47858103-47858118, 47863834-47863835, 47863841-47863842, 47863845-47863850
705PEX26220.917211328976037691818561177-18561189, 18561198-18561249, 18561257-18561259, 18561290, 18561302-18561308
706PRODH220.83971159179146289180318900750, 18904412-18904414, 18905879-18905902, 18905925, 18907030-18907038, 18908884, 18908888, 18910442-18910443, 18923533-18923754, 18923766-18923771, 18923782-18923800
707GP1BB220.1078904991948555462119711377-19711407, 19711417-19711425, 19711434, 19711444-19711464, 19711468-19711472, 19711475, 19711486-19711971
708TBX1220.326612903225811002148819747167-19747181, 19748428-19748803, 19751743, 19753287-19753330, 19753336-19753348, 19753425-19753525, 19753912-19754362, 19754373
709SMARCB1220.9188255613126194115824129357-24129449, 24175809
710HPS4220.996212121212128211226849237, 26849267-26849272, 26859942
711CHEK2220.9551391254968879176129083906-29083928, 29083935-29083965, 29085165-29085171, 29091837-29091844, 29126422-29126427, 29126439, 29126442, 29126445, 29130667
712TCN2220.999221183800621128431011610
713SLC5A1220.9854636591478729199532463992-32464006, 32487599-32487608, 32487661-32487662, 32495196, 32495199
714TIMP3220.98113207547171263633198007, 33198021-33198027, 33198040, 33198042, 33198048-33198049
715LARGE220.997357992073986227133712084-33712089
716MYH9220.9933707292197939588336680211, 36688075-36688081, 36688092-36688096, 36688099-36688101, 36688111-36688115, 36688118-36688120, 36701086-36701094, 36701106-36701111
717TRIOBP220.96097492251338277709838109260-38109275, 38109364-38109372, 38119798-38119804, 38119856-38119862, 38119879-38119921, 38120032, 38120041, 38120049, 38120150-38120199, 38120270-38120303, 38120426-38120450, 38120480-38120486, 38121926-38121927, 38121930, 38121944, 38121984-38121987, 38122033-38122036, 38122048, 38122055, 38122058-38122059, 38122324-38122325, 38122437-38122442, 38122448-38122450, 38122488-38122490, 38129332, 38130910, 38136959-38136962, 38153803-38153806, 38153818-38153821, 38153834-38153838, 38153930, 38161746, 38164179-38164183, 38165162-38165181
718SOX10220.91434689507495120140138369923-38369928, 38369933-38369946, 38379397-38379398, 38379479-38379487, 38379520-38379524, 38379652-38379693, 38379711-38379722, 38379726-38379728, 38379731-38379745, 38379754, 38379757-38379761, 38379764, 38379767-38379771
719ADSL220.994501718213068145540742563-40742570
720EP300220.9966873706004124724541546052-41546053, 41546056-41546058, 41546063-41546066, 41546144-41546151, 41572777, 41573308-41573309, 41574102, 41574185, 41574194, 41574213
721TNFRSF13C220.4810810810810828855542322112-42322116, 42322122-42322123, 42322140, 42322143, 42322146-42322147, 42322151, 42322167, 42322173-42322174, 42322191-42322192, 42322201-42322335, 42322642-42322777
722CYB5R3220.973509933774832490643027436-43027438, 43045301-43045321
723ATXN10220.91806722689076117142846067944-46068059, 46134641
724TRMU220.973933649289133126646731679-46731681, 46731689, 46731695-46731701, 46731704-46731708, 46731712-46731716, 46731722-46731732, 46752837
725ALG12220.9822767552828926146750297985-50298006, 50307358-50307360, 50307377
726MLC1220.9656084656084739113450502480-50502495, 50502510, 50502523, 50502591-50502597, 50502605-50502618
727SCO2220.977528089887641880150962561-50962568, 50962660, 50962663, 50962761-50962767, 50962782
728TYMP220.61766735679779554144950964199-50964238, 50964269-50964347, 50964430-50964570, 50964675-50964860, 50964882-50964885, 50964893-50964898, 50964903-50964905, 50965009-50965048, 50965065-50965068, 50965091-50965094, 50965125-50965135, 50965166, 50967648-50967649, 50968023, 50968089-50968120
729ARSA220.9527559055118172152451063654, 51063665-51063670, 51063675-51063688, 51063691-51063696, 51063718-51063721, 51063774-51063783, 51063790, 51063794, 51063801-51063803, 51063820, 51063824-51063834, 51063840-51063842, 51063846, 51063853, 51063885, 51063888-51063890, 51064054-51064055, 51064436, 51065833-51065834
730SHANK3220.655606407322651806524451113070-51113132, 51113481-51113510, 51113533-51113543, 51113597, 51113646-51113649, 51133312, 51133316-51133319, 51133330, 51133334, 51133346-51133348, 51135694-51135719, 51135951-51136143, 51137162-51137167, 51144500-51144536, 51158622-51158628, 51158684, 51158690, 51158707-51159323, 51159353-51159356, 51159372-51159373, 51159376-51159386, 51159389-51159393, 51159396-51159467, 51159483-51159494, 51159506, 51159545-51159548, 51159578-51159580, 51159583, 51159593-51159602, 51159607, 51159612-51159615, 51159624-51159632, 51159670, 51159696-51159707, 51159721-51159760, 51159770-51159794, 51159925, 51159970-51159979, 51159997, 51160002, 51160202-51160216, 51160619-51160620, 51169150, 51169159, 51169166, 51169174-51169241, 51169251-51169259, 51169269-51169740
731SUMF130.986666666666671511254458816, 4458820-4458823, 4458841, 4458881, 4458885-4458888, 4508706-4508707, 4508756, 4508762
732ITPR130.99963113242346381334732995, 4732998, 4856180
733CAV330.92543859649123344568787506-8787538, 8787542
734VHL30.91900311526485264210183698-10183708, 10183779-10183815, 10183842-10183844, 10183847
735TSEN230.999284692417741139812545160
736WNT7A30.9828571428571418105013860461-13860465, 13860472, 13921243-13921254
737XPC30.999645766914631282314220031
738COLQ30.9597953216374355136815563078-15563132
739TGFBR230.9865092748735224177930648381-30648388, 30648404-30648405, 30648409, 30648413, 30648418-30648419, 30648426-30648427, 30648432, 30648458-30648464
740GLB130.9631268436578275203433138503-33138577
741CRTAP30.62189054726368456120633155570-33156010, 33156019-33156028, 33156036-33156040
742MLH130.998238661382654227137067205, 37067350, 37067402, 37067406
743SCN5A30.9979623025980612588938592925-38592931, 38648173-38648176, 38648192
744ABHD530.955238095238147105043732485-43732531
745TMIE30.6862745098039214445946742860-46742965, 46742971-46742974, 46742988-46743004, 46743007, 46743010-46743022, 46743026-46743028
746TMIE30.927813163481953447146742988-46743004, 46743007, 46743010-46743022, 46743026-46743028
747TREX130.992792792792798111048508039-48508040, 48508073, 48508077, 48508081-48508082, 48508329, 48508894
748COL7A130.9938879456706354883548612816, 48612871, 48612876-48612877, 48612905, 48619173-48619180, 48623023, 48625228-48625231, 48625259, 48625266, 48627038-48627041, 48627143, 48627148, 48629665, 48629813, 48629819, 48632555-48632562, 48632565-48632575, 48632581, 48632585-48632589
749LAMB230.9888827126181260539749159730, 49160252-49160256, 49160274-49160275, 49160286-49160296, 49162032, 49162549, 49162554, 49162559, 49162721-49162725, 49162740, 49162744, 49162786-49162791, 49162807, 49162903-49162917, 49166117-49166124
750GNAT130.81861348528015191105350231186-50231207, 50231231-50231252, 50231525-50231527, 50231532-50231552, 50231591-50231623, 50231645, 50232198-50232262, 50232291, 50232296-50232301, 50232312-50232327, 50232335
751HYAL130.999235474006121130850338494
752RFT130.93665436654367103162653138076, 53156415-53156471, 53156484-53156490, 53156501, 53156504-53156505, 53156521-53156523, 53156530-53156535, 53157773-53157798
753TKT30.94284188034188107187253289852-53289958
754HESX130.98566308243728855857233911-57233917, 57233930
755FLNB30.9932129594058153780957994356, 57994427, 57994430-57994432, 57994438-57994439, 57994446, 57994485, 57994488, 57994499-57994541
756PDHB30.978703703703723108058419370, 58419373-58419382, 58419385, 58419391, 58419396-58419397, 58419402-58419403, 58419410-58419411, 58419495-58419497, 58419501
757ATXN730.88372093023256330283863898275-63898599, 63982046-63982050
758MITF30.9808061420345530156369788767-69788774, 69788822-69788842, 69928341
759PROK230.879487179487184739071834120-71834123, 71834149-71834191
760ROBO230.9932318104906928413777599996-77600022, 77684110
761CHMP2B30.99532710280374364287299077-87299078, 87299087
762PROS130.9886755292959123203193595834-93595836, 93595841, 93595848, 93595906, 93595941, 93595951-93595953, 93595963-93595964, 93595971-93595973, 93595978-93595980, 93596013, 93692571-93692574
763ARL630.98752228163993756197486984-97486990
764CPOX30.85567765567766197136598311876, 98311928-98311939, 98311941-98311960, 98311964-98311974, 98312018, 98312075-98312085, 98312104-98312105, 98312129-98312254, 98312257-98312258, 98312273, 98312275-98312276, 98312280-98312287
765CASR30.9987642879209143237122003496-122003498, 122003634
766GP930.9232209737827741534128780891, 128780996-128781009, 128781022-128781044, 128781063, 128781085, 128781089
767RHO30.98949379178606111047129251384-129251394
768ATP2C130.9996491228070212850130714933
769NPHP330.912096168294523513993132409377-132409381, 132409441-132409442, 132438549-132438674, 132440982-132441199
770FOXL230.306808134394347841131138664524-138664525, 138664537, 138664541, 138664544, 138664548-138664553, 138664560-138664569, 138664575, 138664598-138665143, 138665149-138665188, 138665197-138665201, 138665204-138665206, 138665219, 138665225-138665230, 138665245-138665248, 138665280-138665313, 138665326-138665390, 138665401-138665402, 138665407, 138665418, 138665428, 138665436, 138665463, 138665466-138665484, 138665494, 138665518-138665548
771MRPS2230.9953831948291851083139074583-139074587
772PLOD230.99385155906895142277145791083, 145791120-145791122, 145804574-145804580, 145804639-145804641
773HPS330.9980099502487663015148847549, 148863168-148863169, 148863183-148863185
774GFM130.99290780141844162256158362438-158362452, 158399854
775IFT8030.999570446735412328160099335
776GHSR30.9990917347865611101172166090
777SOX230.84171907756813151954181430183-181430237, 181430248-181430297, 181430376-181430379, 181430420-181430429, 181430546-181430548, 181430552-181430559, 181430583-181430589, 181430818, 181430824-181430834, 181430896, 181430985
778ALG330.9931662870159591317183962992, 183966624-183966628, 183966688-183966689, 183966706
779CLCN230.9988876529477232697184075435, 184075451-184075452
780TP6330.9980420949583942043189587115-189587118
781CCDC5030.98343685300207241449191047475-191047477, 191098043-191098063
782OPA130.9983595800524953048193355041, 193355044-193355047
783CPN230.998168498168531638194061801-194061803
784PDE6B40.97933723196881532565619517, 619520, 619538, 619542, 657597, 659045-659048, 659053, 659058-659060, 659105-659118, 663835-663860
785IDUA40.671253822629976451962980873-980990, 981002-981005, 981647-981650, 995536-995537, 995826, 995888, 995897, 995911-995912, 996123, 996158-996167, 996173-996182, 996186-996189, 996230-996258, 996266-996273, 996520-996732, 996824-996945, 997133-997206, 997218-997258
786FGFR340.8932838895756125924271795662-1795732, 1801203-1801204, 1803094-1803096, 1803112-1803118, 1803121, 1803127-1803132, 1803139-1803143, 1803253-1803263, 1803347-1803375, 1803444-1803450, 1803453, 1803456, 1803463, 1806162, 1806628, 1806643, 1806649-1806652, 1808568, 1808584, 1808635-1808661, 1808843-1808853, 1808889-1808918, 1808946-1808982
787SH3BP240.8890683898761420618572819951-2820117, 2831383, 2831490-2831504, 2835509-2835531
788HTT40.9688195991091329494293076553-3076603, 3076604-3076813, 3123082, 3123086-3123092, 3123095, 3123103-3123106, 3123110-3123111, 3213780-3213785, 3231747-3231755, 3234959, 3234972, 3240323
789DOK740.9174917491749212515153465103-3465156, 3465233-3465278, 3475208, 3475221, 3478141, 3478200-3478206, 3478244, 3478266, 3487373-3487376, 3494662-3494666, 3494707, 3494845, 3494848, 3495149
790DOK740.9864636209813985913494662-3494666, 3494707, 3494845, 3494848
791MSX140.649122807017543209124861627-4861924, 4861952, 4861958-4861969, 4861974, 4862040, 4862065, 4864511-4864514, 4864517, 4864803
792EVC240.973771326712510339275570280-5570282, 5578068, 5578072, 5578081-5578083, 5578112-5578114, 5578120-5578128, 5633577-5633613, 5710034-5710036, 5710112-5710115, 5710120-5710124, 5710126-5710128, 5710142-5710147, 5710201-5710211, 5710216, 5710222-5710228, 5710231-5710236
793EVC40.9050016784155828329795713108-5713270, 5754729-5754773, 5755591-5755639, 5800360, 5800383, 5800388, 5809971-5809992, 5810042
794WFS140.987280209502433426736303265, 6303271, 6303338-6303349, 6303352, 6303536, 6303548, 6303553-6303554, 6303780, 6303878-6303882, 6303885-6303889, 6303891-6303894
795SLC2A940.99568699938386716239943667, 9982234, 9982259, 9982263, 9982266, 9982299, 10020600
796QDPR40.866666666666679873517513573-17513596, 17513604-17513677
797CNGA140.9649122807017580228047945295, 47954600-47954659, 47954667, 47954676-47954682, 47954685, 47973031, 47973093-47973097, 47973107-47973110
798SGCB40.960292580982243895752895873-52895877, 52904393-52904425
799PDGFRA40.999694189602451327055130026
800KIT40.997611736608677293155524236-55524241, 55598100
801SLC4A440.9881278538812839328572306441-72306479
802ALB40.9918032786885215183074276105-74276106, 74279200-74279212
803COQ240.9038961038961111115584205712-84205726, 84205738-84205782, 84205846, 84205850-84205856, 84205866-84205876, 84205880-84205882, 84205887-84205889, 84205893-84205894, 84205897, 84205899-84205906, 84205915-84205928, 84205931
804CDS140.9805194805194827138685504576-85504583, 85504586, 85504591-85504606, 85556417, 85556503
805PKD240.82456140350877510290788928886-88929353, 88929364-88929403, 88929430-88929431
806SNCA40.98817966903073542390756702-90756703, 90756706-90756708
807MTTP40.9985102420856642685100528026-100528028, 100530014
808MANBA40.97878787878788562640103610736-103610772, 103610840-103610841, 103681939-103681942, 103681992-103681993, 103681999, 103682007-103682014, 103682019-103682020
809CISD240.9411764705882424408103808506-103808522, 103808569-103808575
810TACR340.98569384835479201398104640738, 104640743-104640761
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868PPP2R2B50.998498498498521332146077640, 146077643
869ADRB250.9959742351046751242148206471, 148206473, 148206917, 148207632-148207633
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873ITK50.99409554482018111863156679617-156679627
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877MSX250.85945273631841113804174151705-174151782, 174151807, 174151812, 174151884-174151893, 174151898-174151920
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881NHP250.993506493506493462177576714-177576716
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883SQSTM150.845049130763422051323179247937-179248141
884FLT450.940860215053762424092180038331-180038368, 180038472-180038478, 180045812, 180045816-180045821, 180045826, 180045851-180045857, 180045895-180045908, 180046022-180046048, 180046052-180046061, 180046108-180046109, 180046337-180046339, 180046343-180046351, 180046355-180046361, 180047998-180048006, 180056333-180056348, 180057026-180057035, 180057750-180057754, 180057761-180057763, 180057769, 180057772, 180057776-180057781, 180057785, 180076488-180076545
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888TFAP2A60.985540334855419131410398770, 10398781, 10398796, 10398860-10398861, 10404770, 10404806-10404810, 10410357-10410360, 10410517-10410520
889DTNBP160.9384469696969765105615533486, 15533503, 15533524-15533530, 15663045-15663100
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891NHLRC160.9612794612794646118818122544-18122548, 18122672-18122701, 18122716, 18122719-18122727, 18122835
892ALDH5A160.9077109896782152164724495266, 24495281-24495282, 24495307-24495314, 24495318-24495323, 24495334-24495418, 24495422-24495425, 24495432, 24495437-24495447, 24495467-24495468, 24495472-24495473, 24495477-24495480, 24495503-24495506, 24495512-24495522, 24495528-24495532, 24495540-24495541, 24495544, 24495569-24495571
893HLA-H60.67224675029855764-29855784, 29855792-29855801, 29855804-29855811, 29855820, 29855830-29855840, 29855845, 29855848-29855853, 29855860, 29855863, 29855869, 29855872-29855881, 29855894-29855903, 29855940, 29855949-29855950, 29855964-29855966, 29855975-29855982, 29855989-29856001, 29856290-29856299, 29856303-29856304, 29856309-29856342, 29856345-29856358, 29856361, 29856366, 29856382-29856387, 29856391-29856408, 29856421, 29856426-29856427, 29856431-29856439, 29856441-29856442, 29856445, 29856448-29856449, 29856501-29856534, 29856686
894TNXB60.87765681700363236192931976396, 31976400, 31976403, 31976896-31976929, 31977164-31977170, 31977388-31977395, 31977528, 31977548, 31977552, 31977786-31977792, 31977995-31978001, 31978094-31978124, 31978259-31978265, 31978498-31978517, 31978774-31978793, 31979420-31979453, 31979470-31979476, 31979518, 31979524-31979529, 31979599-31979639
895CYP21A260.91733870967742123148832006200-32006202, 32006208-32006254, 32006568, 32006958, 32006961-32006966, 32006986-32006989, 32007404-32007410, 32007843-32007849, 32008448-32008454, 32008701-32008729, 32008751, 32008754-32008756, 32008901-32008907
896TNXB60.984837772016651931272932009648-32009664, 32009793, 32009899-32009905, 32010123-32010130, 32010520-32010526, 32010729-32010735, 32010849, 32010855, 32010858, 32010993-32010999, 32011232-32011251, 32012261-32012307, 32012324-32012330, 32012480-32012481, 32029218, 32029224-32029230, 32037425, 32046826-32046828, 32047088-32047091, 32063560-32063577, 32063935-32063936, 32063950, 32063956, 32063959, 32064143, 32064299-32064306, 32064314-32064315, 32064319-32064320, 32064335, 32064514-32064515, 32064562-32064566
897HLA-DQA160.8658854166666710376832605266, 32605271-32605280, 32605285, 32605289-32605298, 32609813, 32609952, 32609969, 32609974, 32610002, 32610009, 32610387-32610406, 32610420, 32610423, 32610428-32610438, 32610441, 32610445, 32610461, 32610492, 32610495-32610512, 32610522-32610541
898HLA-DQB160.3893129770992448078632629124-32629180, 32629190-32629234, 32629744-32629782, 32629796-32629802, 32629807-32629822, 32629826-32629830, 32629846-32629856, 32629859, 32629877-32629879, 32629955, 32630019-32630025, 32632575-32632809, 32632824-32632844, 32634288-32634292, 32634312-32634315, 32634318-32634324, 32634334-32634341, 32634363-32634367, 32634373, 32634376-32634377
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900SYNGAP160.88740079365079454403233388042-33388108, 33393575-33393680, 33399973, 33400004, 33400577, 33405829, 33410906, 33410909, 33411166-33411167, 33411174, 33411212, 33411226-33411234, 33411273, 33411287-33411289, 33411450-33411698, 33411718-33411725, 33419600
901FANCE60.91495965238982137161135420323-35420445, 35420477-35420480, 35420490-35420491, 35420532-35420536, 35420547, 35420559, 35423861
902TULP160.9766728054020938162935473872, 35478649-35478657, 35479474-35479476, 35479497-35479501, 35479513-35479520, 35479563-35479564, 35479574, 35480020-35480022, 35480035-35480040
903MOCS160.9937205651491412191139874425-39874435, 39883969
904PRPH260.998078770413062104142672169, 42689775
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906CUL760.999215224641954509743008306-43008307, 43008317, 43008743
907RSPH960.7761732851985618683143612842-43612851, 43612860-43612928, 43612939-43612982, 43612988-43613029, 43613039-43613059
908RUNX260.86781609195402207156645390330-45390536
909MUT60.9937860630270814225349409566, 49409633, 49409670, 49415389-49415391, 49419348, 49421377-49421380, 49421384, 49421435-49421436
910PKHD160.99697341513292371222551484009, 51484013, 51497363-51497369, 51497414-51497438, 51889717-51889718, 51889777
911EYS60.9984101748807615943565149182-65149188, 65523343, 65523400, 65523423, 65523426-65523429, 66204712
912LMBRD160.9852125693160824162370410713, 70410734, 70506741-70506747, 70506753-70506763, 70506770-70506773
913COL9A160.998915401301523276670942421-70942423
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915SLC17A560.9368279569892594148874363516-74363609
916LCA560.998567335243553209480196773, 80196848, 80196851
917ELOVL460.9968253968254394580656986, 80656993-80656994
918BCKDHB60.9915182357930410117980877438-80877442, 80881071, 80881074-80881075, 80881089, 80881107
919NDUFAF460.965909090909091852897339042-97339046, 97339078, 97339109-97339116, 97339133-97339135, 97339144
920SIM160.9982616253802742301100897506-100897509
921PDSS260.99166666666667101200107531748-107531751, 107780274-107780275, 107780283-107780286
922SEC6360.948751642575561172283108224186, 108279090-108279104, 108279113-108279213
923OSTM160.870646766169151301005108395566, 108395570-108395572, 108395580, 108395617-108395621, 108395630, 108395730-108395765, 108395771-108395853
924COL10A160.95447870778267932043116441744, 116441748, 116442287-116442334, 116442365-116442406, 116442466
925RSPH4A60.9986052998605332151116938381-116938382, 116938385
926GJA160.9956483899042651149121769097-121769100, 121769103
927LAMA260.9951938481256459363129635919, 129670524, 129674348-129674390
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930AHI160.9988861041492643591135759579, 135759590-135759592
931PEX760.9135802469135884972137143804-137143806, 137143816, 137143822-137143845, 137143855, 137143860-137143869, 137143876, 137143893-137143933, 137167265, 137219362-137219363
932IFNGR160.9993197278911611470137527410
933STX1160.937554864144507769, 144507776, 144507793-144507796, 144507932, 144507986-144507998, 144508004-144508008, 144508037-144508039, 144508131, 144508139-144508147, 144508363-144508364, 144508373-144508380, 144508426-144508431
934EPM2A60.71084337349398288996146056334-146056621
935IYD60.995402298850574870150719234-150719235, 150719244, 150719249
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939LFNG70.6122807017543944211402559496-2559901, 2564366, 2564376, 2564875, 2564879-2564903, 2564916, 2565099-2565103, 2565113-2565114
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962HGF70.9922267946959317218781399251-81399260, 81399266-81399271, 81399287
963ABCB470.9937524384087031507-87031516, 87037425-87037433, 87074229-87074233
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984CLCN170.99528142905292142967143039042, 143042695-143042701, 143043336-143043341
985CNTNAP270.99274274274274293996145813982-145813988, 145813994-145814005, 145814039, 146741109, 146805335-146805338, 147844739-147844742
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988SHH70.609791216702665421389155595594-155596084, 155596090-155596123, 155596199-155596215
989MNX170.23466003316759231206156798214-156798514, 156799257-156799303, 156802354-156802376, 156802386-156802410, 156802423, 156802427, 156802430-156802433, 156802448-156802454, 156802462, 156802466-156802474, 156802492-156802493, 156802516-156802541, 156802550-156802557, 156802567-156802570, 156802574, 156802582-156803044
990CLN880.97677119628339208611728671, 1728696-1728714
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993LPL80.999299719887961142819797031
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996CHRNA280.9911949685534614159027320610-27320619, 27320864, 27320977, 27320980, 27321175
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1000HGSNAT80.92872117400419136190842995640-42995757, 43025805-43025822
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1003TTPA80.7897252090800517683763998378-63998379, 63998407-63998580
1004CYP7B180.9467455621301881152165711052-65711126, 65711135-65711140
1005TMEM7080.987228607918261078374888567, 74888597, 74888600, 74888648-74888651, 74888654, 74888659, 74888663
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1012TRPS180.999742599742613885116599322
1013TNFRSF11B80.9991708126036511206119945281
1014KIAA019680.9997126436781613480126091159
1015KCNQ380.928216876670481882619133492394-133492395, 133492407-133492408, 133492415, 133492427, 133492436-133492438, 133492443, 133492496, 133492502, 133492513-133492514, 133492567, 133492570-133492575, 133492584-133492615, 133492621-133492626, 133492644-133492653, 133492661-133492779
1016TG80.99855543517515128307133882044, 133882071, 133883738, 133912569, 133912575, 133912579-133912583, 133913695, 134031856
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1018SLURP180.8685897435897441312143822592-143822632
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1022GPT80.735077129443333951491145730677, 145730723-145730730, 145730745, 145730751, 145730753-145730754, 145730774-145730778, 145730793-145730797, 145730808-145730814, 145730817, 145730825, 145730871-145730872, 145731231-145731249, 145731263-145731275, 145731282-145731310, 145731378-145731387, 145731408, 145731443-145731471, 145731477-145731483, 145731496-145731514, 145731626, 145731654-145731692, 145731701-145731768, 145731884-145731945, 145731976-145732039
1023RECQL480.89743589743593723627145737364-145737373, 145738070-145738077, 145738330, 145738409, 145738632-145738663, 145738704, 145738724-145738727, 145738752-145738756, 145738762-145738768, 145738779-145738824, 145738847-145738852, 145738863, 145738955-145738965, 145738973-145739030, 145739094-145739096, 145739383-145739385, 145739457-145739460, 145739684, 145739894-145739909, 145740373-145740375, 145740607, 145741636, 145741955-145741956, 145742800-145742802, 145742809-145742823, 145742830-145742834, 145742887-145742892, 145742986-145743019, 145743085-145743168
1024DOCK890.980317460317461246300214977-215029, 382586, 407003-407006, 407018-407023, 407041-407042, 452023-452080
1025VLDLR90.96987032799397926222622190-2622268
1026KCNV290.8730158730158720816382718003-2718030, 2718131-2718147, 2718166-2718184, 2718241, 2718280, 2718339, 2718355-2718358, 2718391-2718417, 2718423-2718424, 2718456, 2718465-2718466, 2718472-2718474, 2718563-2718571, 2718722-2718767, 2718780-2718794, 2718927-2718932, 2718944-2718968, 2718971
1027GLIS390.9627640529896210427934117822, 4117926, 4117931, 4117956-4117963, 4118022-4118078, 4118085-4118092, 4118109-4118111, 4118193-4118199, 4118202, 4118204, 4118206-4118213, 4118272, 4118348-4118350, 4118366, 4118378, 4118411, 4118434
1028SLC1A190.988571428571431815754490719-4490722, 4490740-4490741, 4490744-4490747, 4490750-4490756, 4583074
1029JAK290.993527508090612233995066691-5066697, 5077453, 5077498-5077501, 5077522, 5077524-5077532
1030GLDC90.9653934051583410630636595074, 6645354-6645412, 6645420, 6645423-6645425, 6645429-6645433, 6645436-6645471, 6645496
1031CDKN2A90.959660297239921947121971166, 21971170, 21974738, 21974761-21974765, 21974768-21974771, 21974778-21974780, 21974795, 21974812, 21974815-21974816
1032CDKN2A90.94636015325672852221971166, 21971170, 21994208-21994212, 21994216, 21994222-21994226, 21994229, 21994274, 21994330-21994332, 21994355, 21994364, 21994367-21994371, 21994383, 21994397-21994398
1033TOPORS90.9920331421287425313832550904-32550928
1034B4GALT190.9431913116123668119733166888, 33166891-33166909, 33166943-33166949, 33167094-33167124, 33167134-33167143
1035DNAI190.996666666666677210034506744-34506750
1036GALT90.9885964912280713114034646742, 34646745, 34646751-34646761
1037VCP90.998760842627013242135072335, 35072349-35072350
1038FANCG90.997324772605675186935079206, 35079491-35079494
1039NPR290.9901399491094131314435792406-35792409, 35792471-35792480, 35792580-35792585, 35807130-35807140
1040GRHPR90.99898682877406198737424911
1041FXN90.892575039494476863371650709-71650717, 71650721-71650728, 71650752-71650753, 71650782-71650787, 71650801-71650832, 71650835, 71650841-71650846, 71650849, 71650852, 71650856, 71650860
1042TMC190.997371879106446228375369773-75369777, 75450867
1043VPS13A90.98950131233596100952579820895-79820899, 79820902-79820903, 79820912-79820915, 79841382-79841387, 79841391, 79841395, 79841436-79841441, 79896801-79896842, 79897137, 79898499-79898500, 79922900-79922903, 79931121-79931123, 79931131-79931135, 79931204-79931208, 79932560-79932561, 79932589-79932591, 79932595, 79932601, 79932611, 79933164, 79933168, 79938077, 79996909, 79996934
1044AUH90.9784313725490222102094123986, 94123996, 94123999, 94124043-94124044, 94124047, 94124056, 94124118, 94124150-94124154, 94124163-94124171
1045ROR290.96151129943503109283294486329, 94487004, 94495404-94495406, 94495408-94495409, 94495413, 94495430-94495432, 94495498, 94495501-94495502, 94495580-94495608, 94495617-94495621, 94712171-94712181, 94712196-94712245
1046SPTLC190.99859353023912142294877651-94877652
1047FBP190.9783677482792522101797401546-97401558, 97401561-97401566, 97401572-97401574
1048PTCH190.94935543278085220434498209516, 98211424, 98211438, 98211531, 98231262-98231264, 98231421-98231423, 98239936, 98268689-98268756, 98268760-98268761, 98268765, 98268769-98268775, 98268819-98268821, 98268861, 98270458-98270496, 98270510-98270513, 98270525, 98270527-98270530, 98270533, 98270536-98270542, 98270545, 98270551-98270554, 98270569, 98270573-98270576, 98270583-98270643
1049XPA90.998783454987831822100459454
1050FOXE190.127450980392169791122100616197-100617135, 100617142-100617156, 100617174, 100617177, 100617180-100617187, 100617194-100617206, 100617218-100617219
1051TGFBR190.93584656084656971512101867488-101867584
1052ALG290.99040767386091121251101983906-101983907, 101983914, 101983918, 101983927, 101983932, 101984072-101984077
1053INVS90.99593495934959133198102988452, 102988465, 103002505, 103015333-103015338, 103046818-103046821
1054FKTN90.999278499278511386108370168
1055IKBKAP90.9997499374843713999111642349
1056DFNB3190.899412628487522742724117240862-117240866, 117240870, 117240892, 117240937-117240942, 117240947-117240948, 117266681-117266702, 117266723-117266737, 117266779-117266782, 117266785-117266796, 117266803-117266810, 117266822-117266838, 117266841-117266851, 117266854, 117266861-117266889, 117266895-117266905, 117266917-117266923, 117266933-117267036, 117267042-117267050, 117267070, 117267074-117267081
1057TRIM3290.9994903160040811962119460037
1058CDK5RAP290.9987680394227475682123170711, 123171420-123171425
1059GSN90.956577266922091022349124062160-124062250, 124062271-124062281
1060NR5A190.825396825396832421386127245158-127245174, 127253479, 127255322-127255328, 127255407-127255410, 127262731, 127262735, 127262744-127262748, 127262774-127262777, 127262847, 127262850, 127262856, 127265358, 127265364-127265368, 127265409-127265499, 127265573-127265674
1061LMX1B90.753351206434322761119129376827, 129376833-129376835, 129376838-129376842, 129376850, 129376852-129376861, 129377662-129377848, 129455535-129455565, 129455588-129455591, 129455594, 129455599-129455602, 129456047-129456048, 129456057-129456064, 129456073-129456082, 129458153-129458156, 129458168, 129458182, 129458211-129458212, 129458238
1062STXBP190.97406181015453471812130374683-130374719, 130416002, 130416012-130416019, 130416031
1063ENG90.98836621143146231977130588021, 130588025-130588026, 130588065-130588069, 130616583-130616586, 130616604-130616613, 130616626
1064GLE190.97854077253219452097131267131-131267173, 131286023, 131287656
1065DOLK90.99196042053185131617131708927-131708928, 131709027, 131709030-131709031, 131709372-131709378, 131709381
1066TOR1A90.9279279279279372999132586187-132586231, 132586309-132586310, 132586322, 132586325-132586330, 132586339-132586351, 132586357-132586361
1067POMT190.9972451790633662178134394247-134394249, 134394288, 134394834, 134394844
1068SETX90.99775952203137188034135139628, 135139861-135139867, 135139873-135139877, 135139884, 135139891, 135176112-135176114
1069TTF190.9996320824135412718135263573
1070CEL90.779832672831355002271135944142, 135946012-135946018, 135946483-135946527, 135946546, 135946577, 135946593, 135946623-135947066
1071SURF190.9058693244739885903136223124-136223132, 136223136-136223138, 136223142-136223148, 136223152, 136223162-136223172, 136223276-136223329
1072ADAMTS1390.955648926237161904284136293754-136293891, 136295059-136295070, 136295076-136295079, 136295110-136295116, 136295186-136295187, 136298596, 136298599, 136301996, 136302001, 136302013, 136302016, 136302029-136302030, 136302049-136302052, 136308542-136308548, 136308552-136308553, 136308635-136308637, 136308651, 136321763, 136321772
1073DBH90.99352750809061121854136522255-136522256, 136522278, 136522284, 136522336, 136522342-136522344, 136522348-136522351
1074SARDH90.98186434530287502757136535742, 136555502-136555513, 136568110-136568111, 136597649-136597673, 136599197-136599205, 136599286
1075COL5A190.972992568424871495517137534034-137534142, 137623345, 137623350, 137630625, 137642389-137642395, 137655547-137655553, 137705872-137705878, 137706669, 137706672, 137716635-137716647, 137726925
1076LHX390.794871794871792481209139089186, 139089419-139089425, 139090514, 139090566-139090578, 139090594, 139090617-139090620, 139090754-139090905, 139091677, 139091681-139091683, 139091725-139091726, 139094798-139094810, 139094816-139094826, 139094830, 139094834, 139094849-139094885
1077INPP5E90.763307493540054581935139326304-139326308, 139326320-139326324, 139326335, 139326356, 139327012-139327013, 139328585, 139333069-139333076, 139333143-139333168, 139333171-139333183, 139333262-139333267, 139333305-139333370, 139333430-139333536, 139333544, 139333547-139333548, 139333579, 139333599-139333633, 139333655-139333660, 139333700-139333871
1078NOTCH190.925143453312475747668139390918-139390925, 139390928-139390929, 139390932-139390937, 139390945, 139390980, 139390984, 139391001, 139391051-139391053, 139391072, 139391083, 139391089, 139391096, 139391147-139391167, 139391190-139391196, 139391206-139391244, 139391280-139391328, 139391338-139391344, 139391402-139391420, 139391424-139391425, 139391434, 139391448-139391488, 139391524-139391550, 139391576, 139391633-139391639, 139391676, 139391740-139391744, 139391761, 139391769-139391773, 139391786-139391834, 139391879-139391883, 139391887-139391888, 139391957-139391994, 139392002-139392010, 139395097-139395098, 139395102, 139395186-139395188, 139395203, 139395207-139395208, 139395211-139395212, 139395216, 139395219, 139396288-139396290, 139396825-139396864, 139396881, 139396892, 139396897, 139396904-139396912, 139399194-139399204, 139399213-139399214, 139399219-139399228, 139399234-139399240, 139399249-139399250, 139400024, 139400168, 139400171, 139400183, 139400187, 139400194, 139400277-139400285, 139400290, 139400293, 139400296, 139401081-139401086, 139402715, 139403375, 139403515-139403516, 139407578-139407586, 139410091, 139410150, 139411817, 139412743-139412744, 139417341-139417343, 139417346, 139417586-139417589, 139440178-139440238
1079AGPAT290.7610513739546200837139571539, 139571566-139571567, 139571926-139571957, 139581645-139581809
1080SLC34A390.781111111111113941800140127051, 140127236, 140127318-140127321, 140127682-140127685, 140127734, 140127737-140127738, 140127794-140127813, 140128086-140128092, 140128147-140128174, 140128315-140128393, 140128561-140128652, 140128660-140128693, 140128896-140128900, 140128922-140128924, 140128940-140128942, 140128945-140128954, 140128979-140128984, 140130610, 140130613, 140130675-140130713, 140130719-140130726, 140130740-140130771, 140130795, 140130847-140130857, 140130867
1081EHMT190.97895817295355823897140513481-140513501, 140605425-140605455, 140638534, 140708886, 140729297, 140729308-140729311, 140729321-140729328, 140729334-140729336, 140729340, 140729345-140729349, 140729360-140729362, 140729382-140729384
1082SHOXX0.85324232081911129879591765-591769, 595378, 595487, 595514-595520, 595524, 605126-605131, 605199, 605240-605304, 605310-605348, 605355, 605370-605371
1083KAL1X0.974547234459135220438699934-8699938, 8699988-8699990, 8699997-8700022, 8700026, 8700032-8700039, 8700044, 8700047, 8700063-8700069
1084GPR143X0.980392156862752512759733617-9733627, 9733638-9733642, 9733653, 9733666-9733670, 9733740-9733742
1085PHKA2X0.999730312837111370818912463
1086SMSX0.9745685740236128110121958943, 21958965-21958991
1087ARXX0.71462403789224482168925022916, 25025303-25025307, 25025313, 25025352-25025358, 25025381, 25025384, 25025414-25025420, 25025517-25025523, 25031073-25031097, 25031109-25031110, 25031201-25031205, 25031275-25031289, 25031294-25031297, 25031373-25031404, 25031415-25031416, 25031468, 25031472-25031529, 25031536-25031839, 25033679-25033682
1088NR0B1X0.993630573248419141330326619-30326621, 30326630-30326635
1089RPGRX0.89679098005204357345938145324-38145680
1090BCORX0.999620349278662526839934366-39934367
1091NYXX0.62033195020747549144641332768-41332784, 41332833-41332879, 41332915-41333181, 41333216-41333316, 41333322-41333323, 41333356-41333360, 41333374-41333384, 41333398-41333399, 41333424-41333476, 41333498-41333506, 41333511-41333545
1092SYN1X0.80169971671388420211847433574, 47433585-47433858, 47433913-47433919, 47433957-47433989, 47434088-47434096, 47434109-47434166, 47478784-47478789, 47478812-47478833, 47479094-47479097, 47479108-47479112, 47479123
1093WASX0.9516235917826473150948546814-48546819, 48547197-48547240, 48547246-48547261, 48547709-48547715
1094SYPX0.97558386411892394249056623-49056645
1095FGD1X0.9923769923769922288654497130-54497131, 54521747, 54521754-54521770, 54521781, 54521822
1096ARX0.9674267100977290276366765126, 66765147-66765160, 66765163, 66765166, 66765175-66765182, 66765191-66765194, 66765201, 66765204-66765210, 66766193-66766202, 66766353, 66766365-66766387, 66766390-66766393, 66766400-66766409, 66766433-66766434, 66766461-66766463
1097EDAX0.997448979591843117668836210-68836212
1098MED12X0.9909703091521359653470338612-70338618, 70338629-70338631, 70338638, 70338641-70338658, 70338663-70338664, 70338667-70338676, 70338691-70338703, 70361110-70361114
1099TAF1X0.97166490672298161568270586165-70586267, 70586273-70586277, 70586292-70586344
1100SLC16A2X0.93865363735071113184273641335-73641340, 73641350-73641386, 73641396-73641443, 73641475, 73641534-73641539, 73641544, 73641549, 73641561-73641565, 73641569, 73641734, 73641737-73641742
1101BRWD3X0.994823442410828540980064943-80064970
1102PCDH19X0.9942528735632219330699663091, 99663407-99663409, 99663425, 99663458-99663459, 99663571-99663582
1103OCRLX0.990022172949272706128674426-128674430, 128674433-128674454
1104HPRT1X0.9589041095890427657133594342-133594368
1105SLC9A6X0.98338081671415352106135067834-135067840, 135067846-135067852, 135067882, 135067944-135067947, 135067965, 135067972-135067986
1106ZIC3X0.913817663817661211404136648989, 136648995, 136649000-136649009, 136651071-136651074, 136651087-136651143, 136651155-136651200, 136651223-136651224
1107SOX3X0.489187173750936851341139585885-139586034, 139586044-139586524, 139586627-139586640, 139586651-139586652, 139586679-139586682, 139586685, 139586763-139586788, 139586856-139586860, 139586922, 139586925
1108FAM58AX0.9387755102040845735152864475-152864480, 152864483-152864521
1109SLC6A8X0.851677148846962831908152954030-152954291, 152959799-152959819
1110ABCD1X0.9968722073279772238153008981-153008987
1111AVPR2X0.9955197132616551116153172066-153172070
1112MECP2X0.95390781563126691497153296204-153296210, 153363061-153363122
1113OPN1LWX0.95890410958904451095153409783-153409818, 153418460, 153418468, 153418521-153418527
1114OPN1MWX0.93059360730594761095153448167-153448195, 153448218, 153448266, 153453436, 153453446, 153455650-153455692
1115OPN1MWX0.9296803652968771095153485285-153485313, 153485336, 153485384, 153490554, 153490564, 153492768-153492810, 153496198
1116FLNAX0.99420946626385467944153599339-153599348, 153599365-153599375, 153599379-153599383, 153599398-153599402, 153599557-153599571
1117EMDX0.989542483660138765153607855-153607856, 153608055, 153608109-153608113
1118GDI1X0.99181547619048111344153665602, 153665615-153665621, 153665635-153665636, 153665640
1119G6PDX0.99084249084249151638153760225-153760227, 153760230-153760232, 153760236-153760239, 153775035-153775039
1120IKBKGX0.912568306010931281464153786758-153786762, 153786765-153786766, 153786770-153786773, 153786788-153786789, 153788622-153788653, 153788670-153788671, 153788675, 153788682-153788683, 153788707-153788744, 153791062-153791069, 153791074, 153791078-153791080, 153791102, 153792572-153792598
1121IKBKGX0.9263803680981636489153868329-153868340, 153869058-153869059, 153869070-153869076, 153869847-153869853, 153869858-153869865
1122USP9YY0.998956703182068766814870571, 14898631-14898633, 14898670-14898673
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5CFH-H402Yhomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
5CFH-Q950Hhet unknown0.008Dominant
pathogenic
High clinical importance,
uncertain
Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
5BRCA1-Q356Rhomozygous0.023Dominant
pathogenic
Moderate clinical importance,
likely
This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk).
2.5CETP-A390Phet unknown0.015Unknown
pathogenic
Low clinical importance,
likely
This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl).
2.5CETP-V422Ihomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5CETP-R468Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
2.5SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This 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.
2.5SP110-G299Rhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-A206Vhomozygous0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5TP53-P72Rhomozygous0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2.5COL4A1-P1647Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5COL4A1-Q1334Hhomozygous0.292Dominant
pathogenic
Low clinical importance,
likely
This 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%.
2.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-E2652Dhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5FLG-H2268Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-S761Shifthet unknown0.008Complex/Other
pathogenic
Moderate clinical importance,
uncertain
Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. There is incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale.
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2CHIT1-A442Ghet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
2CHIT1-G102Shomozygous0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2AKAP10-I646Vhomozygous0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
2AKAP10-R249Hhomozygous0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ITGAM-R77Hhet unknown0.095Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.048 (benign)
2ITGAM-M441Thet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ITGAM-A859Vhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ITGAM-P1147Shet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CYP2C9-R144Chet unknown0.027Unknown
pharmacogenetic
Moderate clinical importance,
well-established
This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.
1.5TPMT-Y240Chet unknown0.037Complex/Other
pharmacogenetic
Low clinical importance,
well-established
Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.
1.5TPMT-A154Thet unknown0.031Recessive
pharmacogenetic
Low clinical importance,
likely
Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.
1.5LPL-S474*het unknown0.096Unknown
protective
Low clinical importance,
uncertain
This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.
1.25RNASEL-D541Ehet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-R462Qhet unknown0.208Complex/Other
pathogenic
Low clinical importance,
uncertain
Associated 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.
1CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I23649Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V19783Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FRZB-R200Whet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging)
1SYNE1-L8741Mhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-C4021Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-N1915Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1APOH-W335Shomozygous0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
1APOH-R154Hhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
1APOH-I141Thomozygous0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLCO1B1-V174Ahet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KCP-C835Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP1B1-N453Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TSPAN16-S233Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CD226-S307Ghomozygous0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT6C-V481IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLT4-R1146Hhomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1ALG1L2-L157ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027336-P160LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027336-V73FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027336-W23*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1CPN2-Q509RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-C469Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ENO3-N71ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1AIM1-L1235Phet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-DQA1-L8Mhomozygous0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhomozygous0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E63Ghomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70CLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-EF73VLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-SK75RQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T130Ihomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported 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).
1SLC22A1-R61Chet unknown0.024Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M408Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SSX7-D182Ehomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
1HRNR-S799Thomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SSX1-F101Chomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1F5-D2222Ghet unknown0.038Unknown
benign
Low clinical importance,
uncertain
Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.
1F5-M1764Vhomozygous0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M413Thet unknown0.041Unknown
benign
Low clinical importance,
uncertain
Presumed benign. This variant is not particularly rare and has not been reported to cause disease.
1DGKK-D1111Nhomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ANXA11-R230Chomozygous0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AMPD1-P48Lhet unknown0.047Unknown
benign
Low clinical importance,
uncertain
Probably benign, ancestral to15173240 pathogenic Q12X mutation.
1AMPD1-Q12*het unknown0.041Recessive
pathogenic
Low clinical importance,
likely
Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-I81VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-C194*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1H2BFM-Q73*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.75NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.75NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75NPC1-H215Rhet unknown0.222Complex/Other
protective
Low clinical importance,
likely
This 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).
0.5HLA-H-Q61Rhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-W209*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF204P-E93Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-C16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-A13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DMXL1-S851Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DMXL1-M1589Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALNT12-E119Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1949-G339Rhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PIGO-F1055Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TNXB-V3186Ihet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIF27-N1036Dhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5KIF27-R300Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KIF27-I213Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCIN-R485Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5BAAT-V137Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.661 (possibly damaging), Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5AGRN-Q1135Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5F13A1-E652Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-Y205Fhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEDD9-P136Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MRPL22-G154Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5WWC1-G491Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-G16Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R202Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-V347Lhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-T482Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PCDHB16-A508Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-E526Ahet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-Q638Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-A710Vhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SPINK9-C32Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HK3-Q600Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5HK3-Q578Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-N796Khet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-P562Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-N1185Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.498Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF24-W218Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF24-M140Vhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5CDC25C-G297Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FGFR4-V10Ihet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging)
0.5SETX-I2587Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-Q1276Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOBEC2-T120Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5NCF1-R90Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCF1-G99Shet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1324L-T864Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UPP1-T228Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5CCM2-V53Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5FRMD1-Q456Ehomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FRMD1-H383Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.742 (possibly damaging)
0.5FRMD1-G150Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5DNAH11-E34Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5AKAP9-M463Ihet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTUS1-S267Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MTUS1-C148Rhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5FBXL13-C231Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FBXL13-I74Mhomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRZ1-V1024Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5PTPRZ1-K1080Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5PTPRZ1-D1431Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PTPRZ1-G1433Dhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AASS-S771Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRWD1-Q607Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CYP3A43-M275Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5PDK4-M134Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LMBR1-L203Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCSK1-S690Thet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-Q515Ehet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PKHD1-V3960Ihet unknown0.023Unknown
benign
Low clinical importance,
likely
Probably benign, reported as a nonpathogenic polymorphism found in controls.
0.5PKHD1-I3905Nhet unknown0.030Unknown
benign
Low clinical importance,
likely
Presumed benign, allele frequency contradicts severe pathogenic effect.
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-E641Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-Q571Rhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEC-R4129Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP39A1-R389Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP39A1-N324Khet unknown0.410Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP39A1-R103Hhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CER1-V179Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5CER1-A65Ghet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX6-A809Vhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-D63Nhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5ENPP5-I171Vhet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.139 (benign)
0.5ENPP5-R39Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ENPP5-L6Ihet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5LMBRD1-D469Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENPP1-K173Qhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.15 (benign), Testable gene in GeneTests
0.5ENPP1-R886Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BCLAF1-T425Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HIVEP2-L1538Phomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HIVEP2-Y1242Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROS1-S2229Chet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ROS1-K2228Qhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ROS1-D2213Nhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ROS1-S653Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5RSPH4A-T149Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARMC2-T546Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL10A1-G434Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5COL10A1-M27Thet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSE-T25Ihomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5DSE-P34Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HHIPL2-V598Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5SIPA1L2-R1708Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5SIPA1L2-M1424Lhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.291 (possibly damaging)
0.5SIPA1L2-T1322Ahet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXO1-N279Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EXO1-H354Rhomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.119 (benign)
0.5EXO1-E670Ghomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5EXO1-R723Chomozygous0.915Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.5KIF26B-S1294Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5GPATCH2-M474Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5USH2A-T4918Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-V230Mhet unknown0.008Recessive
benign
Low clinical importance,
uncertain
This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).
0.5USH2A-A125Thet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknownUnknown
benign
Low clinical importance,
likely
Common polymorphism
0.5NAV1-D487Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5NAV1-S1270Lhomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5RNPEP-K260Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5RNPEP-V579Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5RPS6KC1-P319Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FAM71A-K555*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM71A-T577Mhomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APOB-S4338Nhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-P2739Lhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-A618Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASXL2-S185Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TET3-P294Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5MOGS-V673Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH6-H55Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5DNAH6-V141Mhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-H623Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghet unknown0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2574Nhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-D2672Hhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF638-C1198Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5OTOF-D304Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-T680Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.354 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OXER1-L407Vhet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5OXER1-M40Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5TTC7A-R188Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SRBD1-P822Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SRBD1-V798Fhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5ASPM-L2647Ihet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAPPA2-P1657Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5ALDH4A1-T528Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.818 (possibly damaging), Testable gene in GeneTests
0.5RNF186-P208Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5RNF186-R179*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PLA2G2D-R121Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLA2G2D-S80Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPL-R152Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM82-L308Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM82-L309Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VPS13D-EP1858AShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VPS13D-R2432Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5ARHGEF16-H370Yhomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.744 (possibly damaging)
0.5ARHGEF16-N380Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RNF207-N573Shet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.5H6PD-D151Ahomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.5H6PD-R453Qhet unknown0.407Recessive
pathogenic
Low clinical importance,
uncertain
This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
0.5H6PD-P554Lhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5TNFRSF1B-M196Rhet unknown0.206Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5FUCA1-P10Rhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5GRHL3-T454Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBT-N473Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ10-R271Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5TDRKH-G257Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5IFI44L-M40Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IFI44L-H73Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IFI44L-V217Ihet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.877 (probably damaging)
0.5IFI44L-I235Thet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRIQ3-A558Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-M129Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.819 (possibly damaging)
0.5FAM46B-H416Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM46B-T20Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.105 (benign)
0.5ZC3H12A-P32Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5ZC3H12A-R33Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.228 (possibly damaging)
0.5MUTYH-V8Mhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INADL-E362Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5INADL-I870Mhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INADL-G1178Shomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INADL-R1282Hhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5INADL-V1360Lhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INADL-A1616Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM141-R54Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5EPHA5-N81Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5UGT2A1-E380Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5UGT2A1-R75Khomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0226-N853Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5KIAA0226-R89Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UMPS-G213Ahet unknown0.170Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A8-I281Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SLC12A8-P266Lhomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-R181Chet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PLSCR1-H262Yhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ALG3-I107Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5PLCH1-P1415Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.214Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C6-T702Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5C6-A119Ehomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC8-K286Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM169A-E511Khet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTRR-S284Thet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTRR-K377Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTRR-R442Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTRR-P477Rhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF150-G88Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5ANXA10-R47Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GALNTL6-A318Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TERT-A279Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FAT1-K4059Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-H1273Rhet unknown0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Y1250Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAT1-R1064Ghet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-A131Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.052 (benign)
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.047Unknown
benign
Low clinical importance,
likely
Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.
0.5ILKAP-P34Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ANO7-D70Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5ANO7-E226Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.137 (benign)
0.5AGXT-I340Mhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phomozygous0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-M361Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ICOS-V151Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CXCR2-R248Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEK10-L513Shet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEK10-R365Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR52-P745Lhet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5WDR52-K284Nhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR52-R218Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR52-K53Ehet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA2018-V2200Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA2018-S1818Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5KIAA2018-P222Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5SIDT1-V78Mhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5LMOD3-R83Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KBTBD8-F179Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KBTBD8-C420Rhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5NCKIPSD-P551Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5AMT-S68Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.13 (benign), Testable gene in GeneTests with associated GeneReview
0.5IQCF3-R106Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5LRIG1-E96Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ABHD14A-R32Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ABHD14A-R227Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5ZNF484-F253Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhet unknown0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign)
0.5HYDIN-E4159Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEKER2520Delhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous1.000Unknown
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-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-R1951Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.269 (possibly damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNAI3-V7Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF276-W263Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.776 (possibly damaging)
0.5ZNF276-R351Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FUK-F228Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5RLTPR-R889Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5BRD7-S473Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-R559Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CES3-R367Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
0.5CCDC135-D51Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5CCDC135-V241Ehet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TSR1-K209Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPATCH8-C1161Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ADAM11-L93Shet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-R141*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADAM11-A226Thet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-P255Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC033456-Q139*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5BC033456-K101Ehomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC47-A40Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5BZRAP1-G1830Ehet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.204 (possibly damaging)
0.5BZRAP1-H1728Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BZRAP1-D1301Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5BZRAP1-A1140Phomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-Q817Rhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-A586Thet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-Q514Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-G79Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.419 (possibly damaging)
0.5JUP-M697Lhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PIGW-H235Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CHRNE-G18Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WSCD1-T301Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MYH13-R1822Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYH13-M1071Vhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5TP53I13-P50Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-A84Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-T222Mhet unknownUnknown
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)
0.5ZNF764-A332Vhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.5ZNF764-R52Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DIP2C-M108Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.838 (possibly damaging), Nonsense mutation
0.5DIP2C-M108Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.838 (possibly damaging), Nonsense mutation
0.5MGA-T716Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-C1270Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGA-P1523Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GATM-Q225Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.022 (benign), Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HERC2-H4640Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5AHNAK2-S2520Phet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5AHNAK2-E2503Ahet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5AHNAK2-V2471Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.813 (possibly damaging)
0.5AHNAK2-L2146Vhomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5AHNAK2-P2082Ahet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5AHNAK2-E1856Dhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-M1298Ihet unknown0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5TTC9-C214Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MLH3-P844Lhomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5CATSPERB-P866Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EML5-D1285Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5EML5-I269Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5CEP152-L914Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCG3-K154Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests
0.5IFT140-R773Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GFER-F166Lhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLIS2-A75Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACSM2A-R115*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ACSM2A-N463Dhomozygous0.930Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQGAP1-N903Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APH1B-T27Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-A255Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC28A1-V189Ihomozygous0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-Q237Khomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOX9-QY439HHhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNE1-S38Ghomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5HLCS-V641Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.305 (possibly damaging), Testable gene in GeneTests
0.5COL18A1-G173Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDF2L1-R161Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRTAP27-1-A99Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.108 (benign)
0.5KRTAP27-1-C95Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KRTAP26-1-P188Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRTAP26-1-S26Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5FAM65C-E415Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5SALL4-L507Rhomozygous0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF217-D889Ghet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5ZNF217-V739Ihet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SRMS-V457Lhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SRMS-A453Thet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5SRMS-V255Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SRMS-P218Lhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CYP24A1-R396Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5VPREB3-R60Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CRYBB3-H113Dhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRYBB3-E183*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5UBA1-R447Hhomozygous0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F8-D1260Ehomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HDAC10-R496Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.887 (probably damaging)
0.5MYO18B-I3Mhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5MYO18B-G44Ehet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO18B-W547Chomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO18B-W661Rhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO18B-W1037Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYO18B-H1119Qhomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGA1-R524Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PPARA-L162Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign)
0.5CYB5R3-D49Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.341 (possibly damaging), Testable gene in GeneTests
0.5CRLS1-P193Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5ZSCAN4-E387Khet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-T340Mhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCA7-T319Ahet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA7-H395Rhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ABCA7-R463Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5ABCA7-V1311Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCA7-G1527Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA7-Q1686Rhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5PEX11G-L216Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DUS3L-R185Ghomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DUS3L-C54Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.886 (probably damaging)
0.5LAMA3-N2815Khet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA1-K2002Ehomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-A1876Thomozygous0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-I1659Vhet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-M1340Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5LAMA1-R225Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-I137Lhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-P483Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALR2-P370Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CARD14-R547Shet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CARD14-R682Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CARD14-R820Whet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.854 (probably damaging)
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TYK2-V362Fhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PLEKHA4-I37Vhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLEKHA4-S20Yhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5DHDH-S66Nhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LILRB3-R465Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-N252Dhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-E90Qhet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-M88Ihet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.164 (benign)
0.5LILRB3-H61Dhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-Q53Lhomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-H110Qhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-H509Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PTPRH-K823Ehomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-L226Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC151-F58Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5SYCE2-H89Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPHS1-F873Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5NPHS1-E117Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BBS10-P539Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF511-F155Lhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BIN2-N529Dhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BIN2-M125Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BIN2-A70Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5MYOF-R1783Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LARP4-F351Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PPHLN1-P141Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5KRT75-S485Rhomozygous0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT75-E240Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRT75-R91Ghomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STAMBPL1-E204Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5XRCC6BP1-A229Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5MYST4-Q520Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5COL17A1-D1370Ghomozygous0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5INSC-D329Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5KRT6B-G499Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6B-I365Vhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARMS2-R38*het unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5ARMS2-A69Shet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B4GALNT3-R265Qhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.096 (benign)
0.5B4GALNT3-K411Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.236 (possibly damaging)
0.5B4GALNT3-R992Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5BAG3-C151Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HYLS1-C31Rhomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.5ST14-R85Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ST14-R381Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging)
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-P1823Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-D126Ehet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-V2079Ihet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5PDE6C-S270Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CAPRIN2-P610Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CAPRIN2-M519Vhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CAPRIN2-P114Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AMOTL1-R363Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RAD52-S346*het unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWF-G2705Rhet unknown0.047Unknown
benign
Low clinical importance,
uncertain
Probably benign, seems to be considered an uncommon polymorphism.
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCC2-L849Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRP1-R2613Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5LRP1-Q2900Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLN5-R2Chet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLN5-N242Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B12-P195Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PCNXL3-R584Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD248-Q529Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5CD248-H457Rhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC87-L738Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TBC1D4-T1147Mhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5TBC1D4-V819Ihomozygous0.687Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBC1D4-E423Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRDX5-Y33Chomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRDX5-N194Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NEBL-D378Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5NEBL-M351Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FANCM-S175Fhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-V878Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX16-V254Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5SVIL-P1648Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5SVIL-P1235Ahomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5SVIL-V422Ihomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5RPGRIP1-K192Ehomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shet unknown0.164Complex/Other
benign
Low clinical importance,
uncertain
Probably 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.
0.5RPGRIP1-E1033Qhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDX55-S350Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MYOZ1-Y218Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5CCDC63-Y303Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PCDH15-R934Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahomozygous0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5UTP14C-G85Vhomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UTP14C-T101Ahet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UTP14C-R319Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ATP7B-V1140Ahomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FNDC3A-A478Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.536 (possibly damaging)
0.5FNDC3A-T1017Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.375HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HPS1-P491Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25EDARADD-M9Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25C1orf99-T7Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf99-P38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HMCN1-I2418Thet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HPS5-L417Mhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DLL3-L218Phet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FPR1-E346Ahet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25THBD-A473Vhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.25CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25H19-G355Rhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ESCO2-A80Vhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.398Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign)
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FKTN-R203Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL9A2-Q326Rhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-I148Mhet unknown0.268Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IKBKAP-P1158Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-I816Lhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-G765Ehet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSC1-M322Thet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DBH-A318Shet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-Q1413Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1213Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-M1097Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUSK-S159Ghet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLCNKA-R83Ghet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-Y315Fhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-T454Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-V457Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-P683Lhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging), Testable gene in GeneTests
0.25STIL-H985Rhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R548Lhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25KCNQ2-N780Thet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SELE-H468Yhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign)
0.25SELP-V640Lhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25SELP-D603Nhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SELP-S331Nhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASQ2-T66Ahet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4F2-V433Mhet unknown0.216Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.309 (possibly damaging)
0.25CYP4F2-W12Ghet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LEPR-K109Rhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCNT-G704Ehomozygous0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-P2274Lhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25PCNT-R3245Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.25PCNT-G3266Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL6A2-S399Nhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-S1547Phet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25PON1-Q192Rhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25PON1-L55Mhet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NLRP1-M1184Vhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP1-V1059Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25NLRP1-L155Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign)
0.25TLR6-S249Phet unknown0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC2A9-R294Hhet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-A499Thet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLA2G7-I198Thet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-D26Ahet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25LCA5-L24Shet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCA-G809Dhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PTPRJ-Q276Phet unknown0.173Complex/Other
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign)
0.25PTPRJ-E872Dhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.25LRRC50-E432Dhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.25IDUA-R105Qhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.25FIG4-V654Ahet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25SERPINA1-E400Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_028064-C18Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_028064-A9Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TEP1-S116Phet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C13orf40-K6544Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R6075Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-L6011PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-F5916LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-N5750ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R5644ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-S4943PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-V3805IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T3015IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T2812PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-G2410RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-E2111QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-A1822PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-C1275*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C13orf40-P773LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-I96Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-C82Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25MICA-W37Ghet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.293Unknown
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 unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MICA-C329Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-P330Lhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-L-H17Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-L-I30Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-L-A142Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-L-W144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25HLA-L-C172Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B3-S112Ahet unknown0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.25POLA2-G583Rhet unknown0.118Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.024 (benign)
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ITGB4-L1779Phet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALS2-V368Mhet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON2-S311Chet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PON2-A148Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO7A-L16Shet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DSC3-R102Khet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25AHR-R554Khet unknown0.315Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TNFRSF13B-P251Lhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25CCDC66-D5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC66-R460Qhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC66-E835Vhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.25CCDC66-L836Shet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-S241Rhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.25NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XPC-A499Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWA5A-K122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VWA5A-S499Ihet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWA5A-R506Khet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BRIP1-S919Phet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G581Rhet unknown0.048Unknown
benign
Low clinical importance,
uncertain
Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).
0TGM1-Y312Shifthet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
No known reports, but predicted to be highly disruptive and cause congenital ichthyosis in a recessive manner.
0PEX1-I696Mhet unknown0.016Recessive
pathogenic
High clinical importance,
uncertain
Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.
0DTNBP1-P272Shet unknown0.022Recessive
protective
Low clinical importance,
uncertain
Possibly a slight protective effect against colorectal cancer if homozygous.
0SLC4A1-E40Khet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect.
0BTD-D444Hhet unknown0.007Recessive
pathogenic
Low clinical importance,
well-established
This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.
0SMARCAL1-P486Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0RP1-T373Ihet unknown0.016Recessive
pathogenic
High clinical importance,
uncertain
Reported to cause recessive retinitis pigmentosa in some Pakistani families. Because it is unclear whether these families have some common ancestry, and because there may be an uncharacterized linked variant, this pathogenic effect of this variant is considered uncertain.
0CEP290-I2202Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,759,291,272 bases (96.5% of callable positions, 89.6% of total positions)

Coding region coverage: 31,793,152 bases (95.5% of all genes, 96.7% 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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