hu82D4C3 - GET-Evidence variant report

Variant report for hu82D4C3

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1FCN3-L117ShiftModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0234375Speculated to cause immunodeficiency in a patient with serious, repeated infections. A large set of patients was examined (1282) and this variant is not extremely rare (1.1% allele frequency), and so this single observation had no statistical significance. Additionally, if this phenotype is relatively rare (1% or less), then a strong disease effect in homozygotes should have resulted in many more homozygotes in the patient cohort. The lack of this observation casts significant doubt on any pathogenic hypothesis.1
2TYR-M1VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000092954Reported to cause oculocutaneous albinism in a recessive manner. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004011/), and comes from Fukai et al 1995 (PMID: 7704033) who found this variant carried heterozygously by one of 12 patients studied.1
3MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
4rs5186LowLikelyLikely pathogenic

Unknown, Homozygous
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
5SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
6HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
7H6PD-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
8ERCC6-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
9WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
10rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
11PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Homozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
12NPC1-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
13KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
14IL7R-T244ILowLikelyLikely protective

Unknown, Homozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
15TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
16ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
17NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
18CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
19OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
20LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
21ALOX12B-P127SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.0167317This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.1
22WDR36-H212PLowUncertainUncertain benign

Unknown, Heterozygous
0.000465809Probably benign.1
23PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
24APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
25ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
26PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
27RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
28TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
29SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
30TYR-S192YLowUncertainUncertain benign

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

Exome coverage: 31959244 / 33282720 = 96.02%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.4719778429455832416138955553-955723, 955747-955753, 957581-957598, 957606-957608, 957619-957641, 957667-957681, 957691-957784, 957792-957842, 970657-970704, 976045-976057, 976067-976088, 976096, 976115-976260, 976553-976633, 976646-976777, 976859-976865, 976873-976941, 976946-976991, 976995, 977019-977055, 977071-977082, 977336-977342, 977409-977421, 977430-977439, 977457-977458, 977511, 977536-977539, 978661-978664, 978667-978671, 978706-978707, 978717, 978722-978723, 978733-978757, 978768-978789, 978820-978821, 978918, 978925-978936, 978950, 978955, 979022-979053, 979056, 979066-979068, 979086-979098, 979212-979230, 979287, 979299-979356, 979362-979403, 979491-979492, 979503-979504, 979526, 979534-979546, 979555, 979622, 979729-979752, 979793-979814, 980594-980617, 980643-980657, 980781-980798, 980845-980887, 980897-980903, 981115, 981158, 981237, 981240-981242, 981245-981255, 981354-981372, 981411, 981422, 981565-981589, 981605-981609, 981791-981896, 981906, 981918-981919, 981922-981951, 981955-981958, 981975-982009, 982022-982036, 982039, 982085-982094, 982200-982293, 982729-982751, 982759, 982768-982817, 982824-982834, 982994, 983008, 983014-983031, 983046-983052, 983156-983202, 983216-983237, 983249-983275, 983392-983457, 983468, 983507-983547, 983573-983647, 983670-983736, 984255-984320, 984337-984439, 984616-984659, 984665-984708, 984711-984723, 984737, 984740-984760, 984811, 984963, 984986, 984997, 985000, 985030-985068, 985082-985127, 985137, 985148-985175, 985333-985359, 985377-985378, 985383, 985389, 985392-985396, 985676, 985821, 985824, 985833-985883, 985917-985922, 985932, 985962, 986120-986150, 986170, 986181-986217, 986633-986641, 986677, 986681-986723, 986727-986728, 986742-986749, 986833-986924, 986935-986976, 987015-987022, 987108-987127, 987141-987184, 989133-989134, 989143-989164, 989882-989904, 990224-990255, 990280, 990293, 990299, 990309-990342
2GABRD10.6813833701250943313591950863-1950930, 1956781-1956782, 1956804-1956808, 1957037, 1957141-1957158, 1959602-1959638, 1959682-1959713, 1960563-1960573, 1960587-1960592, 1960604, 1960626, 1960637-1960640, 1960658-1960660, 1960667-1960684, 1960687-1960692, 1961006-1961007, 1961023-1961026, 1961038-1961081, 1961145-1961169, 1961176-1961201, 1961444-1961467, 1961475-1961514, 1961552-1961559, 1961564, 1961641-1961680, 1961696-1961701
3PEX1010.840978593272171569812337266, 2337269, 2337923-2337969, 2338185-2338188, 2338311, 2339999, 2340008-2340018, 2340105, 2340268-2340271, 2343830-2343869, 2343892-2343934, 2343940-2343941
4NPHP410.9551506657323119242815923973-5923976, 5935061-5935065, 5947467, 5947503-5947504, 5947510, 6012867-6012884, 6027385-6027401, 6038330-6038473
5ESPN10.7660818713450360025656485016-6485153, 6485170-6485175, 6485183-6485185, 6485202-6485253, 6485274-6485299, 6488304, 6488322, 6488325, 6488333, 6488352-6488385, 6488426-6488470, 6500415-6500416, 6500448-6500488, 6500686-6500700, 6500709-6500811, 6500836-6500868, 6505745-6505751, 6505848-6505854, 6505859, 6505914-6505937, 6508882-6508889, 6508973-6508988, 6511703-6511709, 6512106-6512133
6PLEKHG510.975227343994987931896529179-6529212, 6529726-6529736, 6530350-6530356, 6530934-6530939, 6534520-6534526, 6556554, 6556565, 6556568-6556569, 6556581, 6556614-6556616, 6556619-6556620, 6557380-6557383
7PARK710.9964912280701825708030954-8030955
8PEX1410.9876543209876514113410684440-10684453
9TARDBP10.994377510040167124511082356-11082362
10MASP210.94226103833091119206111094891, 11097750, 11097813-11097814, 11097863-11097868, 11102936-11102942, 11102969-11102990, 11103010, 11103013-11103017, 11103044-11103049, 11103434-11103457, 11103471, 11103508, 11103566, 11103586-11103588, 11105481-11105512, 11106985, 11107260-11107264
11PLOD110.999084249084252218412009832, 12030764
12CLCNKA10.85077519379845308206416350295-16350299, 16353247-16353253, 16353828, 16354391-16354397, 16354604-16354611, 16355287, 16355635-16355641, 16355661, 16355665-16355684, 16355744-16355793, 16356273-16356281, 16356460-16356464, 16356485, 16356498-16356543, 16356569-16356570, 16356956-16356978, 16356991-16357010, 16357014, 16357018, 16357030-16357045, 16357107-16357109, 16357160, 16357163, 16357167, 16358271, 16358300-16358302, 16358305, 16358308, 16358338, 16358698-16358708, 16358755-16358769, 16358772, 16358779-16358781, 16358938-16358944, 16358987-16358989, 16358992, 16360125-16360147
13CLCNKB10.9525193798449698206416371065-16371067, 16378693-16378750, 16378760-16378782, 16381930-16381931, 16381968-16381979
14ATP13A210.9796782387806972354317312740-17312746, 17313586-17313622, 17318619-17318624, 17320270-17320276, 17322473, 17322499-17322500, 17322583, 17322630, 17322985-17322991, 17326564-17326566
15HSPG210.992410443230121001317622150802, 22154854, 22155354, 22181416-22181419, 22186061, 22199512-22199513, 22199525, 22211563, 22211638-22211650, 22213721, 22213963-22213971, 22217085, 22217132-22217144, 22217149, 22263654-22263699, 22263707-22263710
16WNT410.9270833333333377105622469339-22469415
17RPL1110.99813780260708153724019175
18FUCA110.9693076374018643140124194439-24194455, 24194463, 24194524, 24194603-24194607, 24194612, 24194619, 24194648-24194649, 24194652-24194666
19SEPN110.89028776978417183166826126722-26126871, 26126879-26126902, 26138182-26138185, 26138342-26138346
20ZMPSTE2410.99369747899169142840735732, 40737668-40737675
21KCNQ410.9707854406130361208841249766-41249779, 41249807-41249810, 41249816-41249819, 41249866, 41249869-41249880, 41249938-41249963
22POMGNT110.995965708522448198346663450-46663457
23DHCR2410.9838813668600925155155337061, 55352583-55352601, 55352752, 55352789-55352792
24GSTM110.59969558599696263657110230496-110230531, 110230792-110230793, 110230839, 110230841, 110230858, 110231302, 110231714, 110231724-110231726, 110231737, 110231741, 110231883-110231947, 110232902-110232988, 110233076-110233129, 110233135-110233141, 110235888, 110235917
25NOTCH210.99366235167206477416120539778-120539784, 120547962-120547968, 120548055, 120572608-120572610, 120611992-120612020
26PRPF310.999512670565312052150305641
27FLG10.9864598719842416512186152276465, 152276668-152276674, 152277233, 152277372, 152277524, 152278431-152278437, 152278501, 152279406, 152279999-152280035, 152280121, 152280175, 152282095, 152282120-152282121, 152282287-152282295, 152283367, 152283449-152283473, 152284167-152284210, 152284240-152284259, 152284512, 152284610, 152284613, 152285216
28CHRNB210.99072233267064141509154540521, 154544346-154544348, 154544425-154544434
29GBA10.9991645781119511197155186742
30GBA10.98137802607076301611155207980-155208009
31PKLR10.98202898550725311725155269977-155270007
32NTRK110.97323295692179642391156830727-156830779, 156830811, 156843437-156843443, 156845453, 156848995, 156851414
33F510.99700374531835206675169510325-169510344
34NPHS210.9991319444444411152179544864
35CFH10.9862012987013513696196642233, 196712583-196712589, 196716353-196716395
36CFHR110.997985901309162993196801042, 196801078
37ASPM10.99990415947863110434197073479
38ADCK310.98405349794239311944227152841-227152866, 227152900, 227152905, 227152913, 227152916, 227171801
39GJC210.400757575757587911320228345460-228345461, 228345474-228345479, 228345485-228345496, 228345502-228345527, 228345551-228345568, 228345599-228345600, 228345652-228345673, 228345679-228345730, 228345747-228345815, 228345821-228345886, 228345913-228345918, 228345921-228345932, 228345937, 228345959-228345960, 228345964-228345973, 228345976-228345977, 228346000-228346114, 228346138-228346156, 228346159-228346161, 228346168, 228346171, 228346182-228346184, 228346220, 228346223-228346227, 228346247, 228346250-228346261, 228346270-228346280, 228346289-228346291, 228346303-228346369, 228346402-228346502, 228346508-228346532, 228346538-228346555, 228346566-228346613, 228346673, 228346679, 228346684-228346728, 228346732-228346733
40LYST10.9978081711382511406235856781, 235860386-235860391, 235860443-235860447, 235860517-235860529
41MTR10.9992101105845233798237060942-237060944
42RYR210.999261943102521114904237632451-237632461
43GATA3100.990262172284641313358100723-8100726, 8100735-8100743
44PTF1A100.8926038500506610698723481583-23481597, 23481709, 23481714-23481730, 23481742-23481771, 23481864-23481870, 23481887-23481916, 23482165-23482170
45RET100.9811659192825163334543572707-43572744, 43572753-43572775, 43598034-43598035
46ERCC6100.999776885319051448250740926
47EGR2100.9930118798043310143164573483-64573492
48KIAA1279100.99892818863882186670760257-70760258
49SLC29A3100.999299719887961142873115972
50CDH23100.983591885441531651005673437309, 73437379-73437380, 73437415-73437420, 73437423, 73439154-73439184, 73439222, 73439229-73439238, 73439243, 73442253-73442298, 73447404-73447405, 73453915-73453921, 73461802, 73462361, 73462374-73462375, 73462421-73462423, 73464696, 73464707, 73464773, 73464782, 73464787-73464806, 73464823-73464826, 73464869-73464887, 73499452, 73537498-73537499
51VCL100.9958883994126314340575758114, 75758126-75758133, 75873982-75873986
52LDB3100.999084249084252218488441439, 88476297
53BMPR1A100.994996873045658159988683142-88683149
54HPS1100.716524216524225972106100177321-100177326, 100177349-100177379, 100177388-100177389, 100177394-100177433, 100177452-100177483, 100177932-100177969, 100182174-100182224, 100183409-100183410, 100183510, 100183553-100183554, 100183558, 100183580, 100183612-100183638, 100185318-100185341, 100185426-100185430, 100185453-100185465, 100185579-100185589, 100185604-100185639, 100185673-100185674, 100185682, 100186993-100187006, 100187016-100187021, 100189365-100189399, 100189548-100189566, 100189590-100189646, 100190347-100190378, 100190409-100190410, 100190899-100190901, 100190973, 100191006-100191011, 100191014, 100193748-100193803, 100195041-100195060, 100195426-100195437, 100195504-100195510
55ABCC2100.999784389823214638101557043
56CPN1100.9963689179375551377101802223-101802227
57FBXW4100.9975786924939531239103454358-103454360
58HPS6100.99570446735395102328103825447-103825456
59BAG3100.999421296296311728121436753
60FGFR2100.9979699553390252463123263387-123263391
61HTRA1100.911295911295911281443124221174-124221180, 124221183, 124221194-124221199, 124221212-124221216, 124221218-124221269, 124221287, 124221290-124221320, 124221352-124221372, 124221494-124221495, 124221498, 124221573
62HRAS110.76842105263158132570532640-532644, 532668, 532703-532725, 532748-532755, 533458-533461, 533469, 533473, 533489-533510, 533530, 533562, 533596-533612, 533766-533775, 533802-533809, 533824, 533843-533856, 533907-533913, 534230-534231, 534243, 534278, 534291-534293, 534296
63TALDO1110.95956607495069411014747491-747497, 747516, 747550-747552, 747563-747565, 763344-763346, 763386-763387, 763398-763409, 763447-763454, 763514-763515
64SLC25A22110.67695473251029314972791973-792009, 792023-792068, 792142-792155, 792172, 792186-792187, 792190-792208, 792327-792328, 792367-792370, 792379, 792456-792458, 792560, 792565, 792597-792631, 792643-792711, 792886-792887, 792896, 792901-792910, 792967, 792970-792971, 792982-792988, 793553-793556, 793617-793619, 794501-794513, 794786, 794804-794807, 794812-794825, 794865-794880, 794894
65PNPLA2110.929372937293731071515819719-819725, 819762-819781, 819792-819798, 819809-819810, 819813, 819825, 819829-819830, 819857-819886, 824003, 824021, 824029-824030, 824119-824124, 824660-824678, 824734-824736, 824789, 824800-824803
66CTSD110.7441485068603731712391774733-1774743, 1774794, 1774797, 1774823-1774834, 1774837-1774839, 1774848, 1774860-1774863, 1775123, 1775259-1775279, 1775333-1775334, 1775364-1775368, 1778580-1778592, 1778619-1778628, 1778671-1778672, 1778729-1778735, 1780205, 1780233-1780250, 1780310, 1780746-1780766, 1780793-1780840, 1780867, 1782541-1782597, 1782620, 1782667-1782673, 1785022-1785089
67TNNI2110.9344262295082365491861655-1861662, 1861825-1861842, 1862095-1862102, 1862333-1862334
68TNNT3110.532818532818533637771947925-1947929, 1950350-1950352, 1951058, 1954951-1954973, 1954985, 1954998-1955067, 1955171-1955238, 1955586-1955631, 1955643-1955675, 1955776-1955781, 1955788, 1955812, 1955855-1955885, 1956103-1956109, 1956148-1956149, 1958221-1958230, 1959668-1959722
69IGF2110.627285513361462657112154217-2154228, 2154242, 2154278-2154299, 2154328-2154380, 2154397-2154400, 2154403-2154413, 2154421-2154443, 2154747-2154762, 2154791-2154820, 2154848-2154886, 2156684-2156695, 2156719-2156759, 2161365
70TH110.7441269841269840315752185465-2185481, 2185494-2185538, 2185555-2185577, 2186475-2186476, 2186527-2186574, 2186911, 2186941-2186958, 2187251-2187274, 2187710-2187723, 2187741, 2187745-2187779, 2187863-2187869, 2187880-2187924, 2187936, 2187948-2187954, 2187962-2187965, 2187972-2187993, 2187997-2187998, 2188130, 2188134, 2188137-2188139, 2188182, 2188714-2188715, 2189324, 2189329, 2189733-2189740, 2189804-2189811, 2190928, 2191012, 2191023-2191039, 2191047-2191051, 2191920-2191952, 2191959, 2191965-2191967
71KCNQ1110.8124076809453538120312466329-2466411, 2466429-2466540, 2466548-2466585, 2466592-2466608, 2466610-2466660, 2466669-2466672, 2466675-2466676, 2466694-2466714, 2593267-2593290, 2593329-2593338, 2790131-2790149
72CDKN1C110.116719242902218409512905234-2905236, 2905251, 2905290-2905297, 2905319-2905364, 2905900-2906511, 2906518-2906538, 2906546-2906663, 2906675-2906705
73HBD110.9842342342342374445255652-5255658
74SMPD1110.98312236286923218966411931-6411947, 6411951-6411955, 6411967, 6412713-6412720, 6412780
75ABCC8110.9915718499789340474617419278-17419280, 17424287-17424289, 17428252-17428256, 17449875-17449880, 17498195, 17498287-17498291, 17498293-17498309
76ANO5110.999635302698761274222271870
77PAX6110.995271867612296126931811482-31811487
78WT1110.9909909909909914155432449503-32449514, 32449517-32449518
79ALX4110.995145631067966123644286604-44286609
80SLC35C1110.9630681818181839105645827406, 45827412, 45827418, 45827427, 45827438, 45827458-45827459, 45827462-45827464, 45827657, 45827700-45827703, 45827828-45827833, 45827861-45827871, 45832478-45832481, 45832484, 45832572-45832573
81PEX16110.9740634005763727104145935956-45935958, 45937367-45937372, 45937376-45937382, 45939253, 45939256, 45939264-45939265, 45939279, 45939283-45939288
82MADD110.999797734627831494447307043
83MYBPC3110.9754248366013194382547367820-47367821, 47370010-47370027, 47370054, 47370068-47370075, 47371333-47371341, 47372127-47372143, 47372146, 47372149, 47372152, 47372956-47372957, 47372989-47373022
84SLC39A13110.9784946236559124111647431782, 47431826-47431829, 47435983-47435984, 47436373, 47436614, 47436843, 47436847-47436860
85RAPSN110.9919289749798210123947459558, 47459564, 47460319, 47460345, 47460383, 47460398, 47463403, 47463453, 47463464, 47469699
86TMEM216110.99621212121212126461165280
87BSCL2110.996400287976965138962472935-62472939
88SLC22A12110.71359807460891476166264359087, 64359104-64359150, 64359156-64359195, 64359211-64359230, 64359285-64359286, 64359297, 64359303-64359304, 64359331-64359356, 64359388-64359390, 64360288, 64360298, 64360333, 64360349, 64360877-64360890, 64360917-64360918, 64360935-64360939, 64360943, 64361117-64361119, 64361175-64361223, 64365989-64365990, 64365993, 64366092-64366111, 64366308, 64366311-64366322, 64366339-64366358, 64366394-64366395, 64367151, 64367163-64367164, 64367177, 64367189-64367309, 64367317-64367321, 64367325, 64367330, 64367334-64367339, 64367349-64367362, 64367854, 64368208-64368246, 64368328, 64369019-64369023
89CST6110.971111111111111345065779586, 65780331-65780338, 65780418-65780421
90SPTBN2110.97755471908546161717366468007, 66468137-66468141, 66468304-66468305, 66468310-66468312, 66468322-66468324, 66472549, 66472634, 66475081, 66475087-66475101, 66475125-66475171, 66475262, 66475625-66475674, 66478165, 66478443, 66483337-66483365
91PC110.999717274526431353766633659
92CABP4110.964975845410632982867222965, 67222968-67222977, 67222983-67222986, 67223083, 67223665-67223669, 67223894-67223899, 67223911, 67225947
93AIP110.4874118831822850999367256758-67256775, 67256809-67256921, 67257509-67257532, 67257543-67257548, 67257555-67257559, 67257574-67257604, 67257620-67257685, 67257787-67257848, 67257852, 67257872-67257882, 67257899-67257928, 67258259, 67258279-67258308, 67258314-67258362, 67258369-67258411, 67258423-67258437, 67258461-67258464
94NDUFV1110.997849462365593139567376169, 67376990-67376991
95NDUFS8110.99684044233807263367799777-67799778
96TCIRG1110.997994384275975249367810293, 67816569-67816571, 67816574
97LRP5110.97174092409241137484868080183-68080251, 68177389, 68191131, 68197149-68197153, 68201288-68201295, 68207268, 68207291-68207292, 68207296, 68207348-68207358, 68207361, 68207372-68207380, 68207384, 68216339-68216358, 68216455-68216460, 68216486
98IGHMBP2110.9963112005365511298268671467-68671477
99DHCR7110.99369747899169142871146574-71146577, 71146610-71146614
100MYO7A110.732250300842361780664876858911, 76868019-76868021, 76869467-76869474, 76870531, 76873355-76873357, 76883794-76883813, 76883820-76883895, 76883906, 76883918, 76885802-76885960, 76886421-76886457, 76886476-76886487, 76886490, 76886493-76886506, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893082, 76893101-76893200, 76893469-76893505, 76893534-76893584, 76893600-76893645, 76894113-76894131, 76894193-76894201, 76895662-76895705, 76895711, 76895721, 76895726, 76895737-76895748, 76900389, 76900409-76900424, 76901065-76901102, 76901137-76901180, 76901742-76901743, 76901753, 76901773-76901816, 76901843-76901858, 76901886, 76903133, 76903140-76903149, 76903180-76903186, 76903214-76903261, 76903275-76903307, 76908577, 76908580, 76908613-76908632, 76909540-76909546, 76909605, 76909652-76909666, 76910638, 76910766-76910769, 76910774, 76910831, 76910836, 76912535-76912537, 76912646
101ALG8110.998734977862112158177824991, 77824994
102FZD4110.990706319702615161486666083-86666090, 86666111-86666117
103MTMR2110.998964803312632193295657103-95657104
104TRPC6110.9996423462088712796101359768
105DYNC2H1110.99992275009656112945103130665
106DLAT110.96296296296296721944111896224-111896228, 111896240-111896242, 111896294-111896300, 111896408, 111896922-111896923, 111896973-111897007, 111897016-111897023, 111910018, 111910022-111910023, 111910027-111910034
107APOA1110.9813432835820915804116706737-116706739, 116706796-116706804, 116706866-116706868
108FXYD2110.993150684931513438117693253-117693255
109KCNJ1110.9991496598639511176128709954
110WNK1120.99104769897888647149862851-862858, 862864-862879, 862909-862917, 862946, 862972, 863175-863177, 863281-863299, 968519-968520, 995188-995192
111CACNA2D4120.997070884592851034141906624-1906633
112CACNA1C120.994055784179243965612675633, 2676753-2676754, 2676758-2676760, 2676763, 2676767-2676770, 2676809, 2676812, 2676837, 2676848-2676852, 2676900-2676905, 2676940, 2676944, 2788732, 2788879-2788881, 2794934-2794940, 2797843
113VWF120.9857853589196912084426122647-6122650, 6125328-6125344, 6127655-6127661, 6127943, 6128064-6128087, 6128443, 6131926-6131932, 6131955-6131982, 6132003-6132033
114ATN1120.98768541841594435737045892-7045912, 7045915, 7045921, 7050169, 7050647-7050666
115KRAS120.978947368421051257025380252-25380259, 25380263, 25380285-25380287
116FGD4120.998261625380274230132777940, 32778592, 32778597-32778598
117DNM1L120.9877883310719127221132866178-32866203, 32866234
118COL2A1120.998655913978496446448372438, 48398080-48398084
119MLL2120.99626820753581621661449426153-49426154, 49426905-49426924, 49427084-49427091, 49427251-49427253, 49427315-49427320, 49427402-49427418, 49431598-49431603
120TUBA1A120.903508771929824445649522210-49522241, 49522383-49522394
121AQP2120.99754901960784281650344700, 50349247
122KRT81120.9571805006587665151852682999-52683005, 52683956-52684000, 52684041-52684042, 52684046, 52684051, 52685168-52685174, 52685190, 52685193
123KRT86120.9705681040383343146152695879-52695892, 52696889-52696915, 52696981, 52697952
124KRT6B120.9433628318584196169552843632-52843637, 52845365-52845371, 52845397-52845438, 52845571-52845604, 52845798-52845804
125KRT6C120.9710914454277349169552865295-52865300, 52867094, 52867105, 52867230-52867263, 52867457-52867463
126KRT6A120.9911504424778815169552884735, 52886708-52886714, 52886908-52886914
127KRT2120.9937512192053040644, 53043711, 53045673-53045678, 53045829-53045832
128KRT1120.995865633074948193553072487, 53072491-53072492, 53074057-53074060, 53074063
129KRT4120.9927170868347313178553207823-53207835
130GNS120.9921639541892713165965152970-65152982
131CEP290120.99973118279572744088443046-88443047
132TMPO120.998561151079143208598921733, 98925547, 98925599
133UNG120.998938428874731942109547744
134TRPV4120.98241590214067462616110236706, 110238529, 110240909, 110246149-110246183, 110246200-110246207
135ATXN2120.910705225773723523942112036594-112036596, 112036624, 112036627, 112036631, 112036649, 112036688-112036767, 112036770-112036771, 112036782-112036783, 112036795-112036805, 112036819, 112036864-112036880, 112036891-112036916, 112036922-112036966, 112036974-112036990, 112037000, 112037015-112037059, 112037085-112037095, 112037203-112037240, 112037256-112037295, 112037305-112037313
136ACADS120.9991928974979811239121176373
137PUS1120.98676012461059171284132414268-132414271, 132414486-132414497, 132426007
138B3GALTL130.9926519706078811149731774222-31774230, 31774257, 31774261
139BRCA2130.99337038120308681025732911443, 32911774, 32911810, 32911993-32911997, 32912001-32912003, 32912120-32912161, 32912228-32912229, 32912234, 32912567-32912569, 32912695-32912703
140FREM2130.9985278654048414951039261629-39261631, 39261661, 39261914-39261922, 39262060
141SLC25A15130.99116997792494890641373288, 41382658-41382664
142RB1130.9842124147829244278748878086-48878128, 48878137
143ZIC2130.93808630393996991599100634396-100634409, 100635008-100635010, 100637619, 100637699-100637736, 100637752-100637790, 100637838, 100637842-100637844
144PCCA130.97805212620027482187100909893-100909908, 100915059, 101101506-101101527, 101101548, 101101552-101101559
145FGF14130.998682476943351759103054028
146F7130.533333333333336231335113760156-113760219, 113765011-113765018, 113765035-113765075, 113765091-113765130, 113768228-113768244, 113769974-113769986, 113769997, 113770022-113770041, 113770045-113770047, 113770056-113770114, 113771089-113771116, 113771151-113771153, 113771169, 113771791-113771793, 113771820, 113771872, 113771882, 113771904-113771910, 113772737-113772774, 113772794-113772832, 113772841, 113772844, 113772861-113772905, 113772919, 113772936, 113772946-113772985, 113773024-113773073, 113773109, 113773134-113773140, 113773153, 113773165-113773178, 113773183, 113773187-113773188, 113773205-113773217, 113773230-113773263, 113773289-113773311
147F10130.925698704839811091467113777181-113777183, 113777190, 113777196-113777197, 113777239, 113798226-113798228, 113798407, 113801697, 113803253, 113803268-113803271, 113803297-113803317, 113803355, 113803409, 113803508, 113803516, 113803520-113803539, 113803574, 113803654-113803690, 113803741, 113803787-113803788, 113803796-113803797, 113803815-113803818
148GRK1130.9970449172576851692114325866, 114426087-114426088, 114426093, 114426097
149RPGRIP1140.9997409997411386121771565
150MYH7140.998450413223149580823894594-23894602
151NRL140.960784313725492871424550542-24550543, 24550552-24550561, 24550576, 24550596, 24550599-24550603, 24550661, 24551792, 24551802-24551808
152PCK2140.9927197087883514192324572753-24572766
153TINF2140.997787610619473135624711489-24711491
154TGM1140.98003259983749245424723920-24723925, 24724287-24724308, 24724361-24724381
155FOXG1140.88639455782313167147029236654-29236699, 29236730-29236737, 29236763-29236776, 29236790-29236798, 29236826, 29236833-29236846, 29236856-29236859, 29236864, 29236872-29236941
156NKX2-1140.9867330016583716120636986838-36986848, 36986907-36986911
157FANCM140.9980478282088812614745618106-45618117
158C14orf104140.9757358790771761251450100604, 50100669, 50100683, 50100780-50100781, 50100784, 50100843, 50100936-50100943, 50101150, 50101229-50101268, 50101350, 50101412, 50101415-50101416, 50101856
159PYGL140.9772012578616458254451382097, 51410996-51410999, 51411051-51411084, 51411103-51411121
160GCH1140.958831341301463175355369200-55369211, 55369241-55369258, 55369360
161SYNE2140.9999517467670312072464443281
162VSX2140.999079189686921108674706441
163MLH3140.9919761577258135436275500151, 75506626-75506643, 75506710, 75513612, 75513983-75513995, 75515924
164POMT2140.9760319573901554225377745193, 77786858, 77786923-77786944, 77786976-77787005
165GALC140.9936831875607413205888459387, 88459399-88459400, 88459431-88459437, 88459465-88459467
166ATXN3140.997237569060773108692537321-92537322, 92537331
167AMN140.09177679882525712371362103389026-103389068, 103390048-103390058, 103390068-103390069, 103390075-103390119, 103390131-103390132, 103390142-103390166, 103390272-103390281, 103390299-103390316, 103394763-103394850, 103395095-103395141, 103395147-103395155, 103395158-103395159, 103395185-103395312, 103395458-103395595, 103395765-103395809, 103395815-103395873, 103395992-103396074, 103396261-103396291, 103396306-103396324, 103396343-103396423, 103396502-103396536, 103396542-103396664, 103396743-103396830, 103396913-103397017
168INF2140.728810173750105167727-105167731, 105167824, 105167830-105167832, 105167835-105167837, 105167911, 105167916, 105167932, 105167947-105167951, 105168019-105168043, 105169534-105169552, 105169646, 105169651-105169658, 105169734-105169770, 105170261-105170262, 105170268, 105172420-105172421, 105172504-105172507, 105173277-105173295, 105173682, 105173754-105173793, 105173844-105174137, 105174146-105174150, 105174161-105174180, 105174183-105174186, 105174200-105174217, 105174224-105174264, 105174315-105174338, 105174796-105174836, 105174886-105174905, 105175050-105175055, 105176425-105176443, 105176464-105176520, 105177274-105177281, 105177463-105177498, 105177519, 105178035, 105178778, 105178820-105178858, 105178870-105178890, 105179185-105179208, 105179240, 105179248-105179262, 105179265-105179268, 105179271-105179276, 105179317-105179324, 105179599-105179646, 105179827, 105179888-105179891, 105180565, 105180733-105180755, 105180785-105180787, 105180914-105180921, 105180971-105180978, 105181017, 105181028, 105181043-105181045, 105181113-105181135
169NIPA1150.8202020202020217899023086234-23086411
170UBE3A150.999619482496191262825615780
171CHST14150.9752431476569428113140763475-40763492, 40763506, 40763523-40763524, 40763527-40763533
172STRC150.992304804804841532843910863-43910903
173STRC150.999487179487181195044009686
174DUOX2150.999784807402631464745392325
175CEP152150.999798590130921496549076214
176CLN6150.985042735042741493668500488, 68521910-68521922
177HEXA150.999371069182391159072668128
178HCN4150.90946843853821327361273614874, 73614885-73614892, 73615739-73615745, 73659827-73659832, 73659958-73659962, 73660057-73660085, 73660100-73660127, 73660133, 73660149-73660170, 73660191-73660229, 73660279, 73660313-73660339, 73660355-73660372, 73660433-73660444, 73660447-73660452, 73660459-73660526, 73660536-73660584
179PSTPIP1150.24300559552358947125177310561-77310587, 77310861-77310872, 77317636, 77317641-77317643, 77317646-77317658, 77317851, 77317886-77317925, 77317940-77317945, 77320206-77320240, 77320895-77320993, 77321880-77321915, 77322843-77322868, 77322876-77322922, 77323521-77323529, 77323538-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
180RPS17150.9828431372549740882823387-82823393
181RPS17150.9828431372549740883207730-83207736
182POLG150.998118279569897372089872039, 89876828-89876833
183MESP2150.9547738693467354119490319715-90319735, 90319769-90319776, 90319803-90319804, 90319853-90319859, 90319924-90319931, 90320146, 90320149, 90320161, 90320495-90320499
184VPS33B150.998921251348442185491548927-91548928
185IGF1R150.999756335282651410499500582
186HBZ160.52214452214452205429202923-202929, 203928-203974, 203995, 204004-204018, 204022-204025, 204036-204095, 204271-204308, 204338-204370
187HBA2160.8181818181818278429222966-223006, 223139, 223219, 223224, 223239-223259, 223293, 223296-223300, 223306-223312
188GNPTG160.861655773420481279181401967-1402018, 1402103-1402125, 1402155-1402160, 1402240-1402244, 1402252-1402287, 1412221, 1412256, 1412271, 1412519, 1412535
189CLCN7160.636889991728787824181496650-1496657, 1496693-1496696, 1496703-1496705, 1497007-1497087, 1497393-1497416, 1497441-1497494, 1497521-1497541, 1497569, 1497656-1497688, 1497713-1497715, 1498366-1498375, 1498401-1498479, 1498683-1498705, 1498731-1498767, 1498993-1499034, 1499066-1499094, 1499277-1499285, 1499314-1499328, 1500498-1500539, 1500611, 1500616, 1500657-1500667, 1501624-1501717, 1502779, 1502830-1502853, 1502856-1502879, 1503849-1503864, 1503879, 1504420-1504422, 1505190-1505228, 1506146, 1506151-1506176, 1507712-1507721, 1509108-1509111, 1509117-1509120, 1509141, 1509144-1509146, 1524844-1524890, 1524893-1524941
190IGFALS160.48033126293996100419321840601-1840606, 1840609, 1840618-1840619, 1840632-1840633, 1840636-1840638, 1840650, 1840660-1840661, 1840666-1840669, 1840727-1840741, 1840758-1840780, 1840797, 1840801-1840841, 1840859-1840896, 1840910, 1840915, 1840953-1840975, 1841006-1841071, 1841084-1841132, 1841142-1841261, 1841279-1841316, 1841412-1841463, 1841476-1841524, 1841537, 1841542-1841549, 1841556-1841609, 1841629-1841653, 1841677, 1841739-1841793, 1841817-1841840, 1841875-1841923, 1841942-1841944, 1841952-1841954, 1841957-1841967, 1841971, 1841983-1842008, 1842059-1842069, 1842099-1842101, 1842104-1842112, 1842138-1842140, 1842143, 1842151-1842153, 1842166-1842248, 1842268-1842302, 1842371-1842409, 1842445-1842449, 1842483-1842485, 1842505, 1843645-1843653
191GFER160.425566343042073556182034220-2034477, 2034769-2034808, 2034828-2034835, 2034845, 2034858-2034860, 2034883-2034895, 2035907-2035912, 2035940-2035953, 2035958, 2035965, 2035990, 2035993-2035997, 2036000-2036003
192TSC2160.4780604719764283154242098659-2098661, 2098679, 2098685-2098700, 2103343-2103373, 2103387-2103434, 2104408, 2105408-2105410, 2108753, 2108767, 2108770-2108782, 2108802-2108804, 2108813-2108815, 2108833, 2110743-2110786, 2111982, 2112498-2112499, 2112988, 2112994-2112996, 2112999-2113005, 2114273-2114282, 2114392, 2114411-2114416, 2114420-2114428, 2115636, 2120497, 2120514, 2120553, 2120566, 2120570, 2121511-2121539, 2121558-2121564, 2121588, 2121594-2121607, 2121828-2121887, 2121911-2121916, 2121929-2121935, 2122242-2122271, 2122284-2122290, 2122297, 2122327-2122354, 2122891-2122892, 2124201-2124224, 2124245-2124252, 2124257-2124291, 2124315-2124383, 2124389-2124390, 2125800-2125801, 2125854-2125887, 2126130-2126151, 2126498-2126525, 2126549-2126569, 2126582-2126586, 2127599, 2127605-2127606, 2127638-2127647, 2127712-2127727, 2129033-2129050, 2129075-2129120, 2129150-2129197, 2129277-2129304, 2129338-2129347, 2129353-2129356, 2129369-2129375, 2129406-2129427, 2129558-2129670, 2130166-2130180, 2130186-2130253, 2130283-2130378, 2131598-2131599, 2131605-2131642, 2131670-2131798, 2132437-2132505, 2133696-2133724, 2133741-2133817, 2134229-2134372, 2134386-2134426, 2134431-2134548, 2134562-2134716, 2134952-2134964, 2134972-2135027, 2135231-2135275, 2135292-2135322, 2136194-2136380, 2136733-2136865, 2137864-2137942, 2138049-2138063, 2138074-2138094, 2138105-2138140, 2138228-2138326, 2138447-2138455, 2138468-2138611
193PKD1160.01998141263940512654129122139728-2139851, 2139857-2139998, 2140019-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142156, 2142160-2142189, 2142489, 2142493-2142521, 2142528, 2142544-2142548, 2142562-2142563, 2142574-2142584, 2142591-2142593, 2142955-2143028, 2143035, 2143038-2143039, 2143045-2143063, 2143085-2143094, 2143575-2143671, 2143693-2143739, 2143812-2143900, 2143914-2144014, 2144093-2144183, 2144188-2144200, 2144208-2144210, 2147149-2147242, 2147320-2147422, 2147439-2147504, 2147730-2147744, 2147759-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185492, 2185516-2185578, 2185584-2185690
194MEFV160.994032395566921423463293404-3293406, 3293632-3293638, 3306343-3306344, 3306358, 3306432
195CREBBP160.99945422294992473293778440-3778442, 3778994
196GLIS2160.4539682539682586015754382377-4382393, 4383352-4383373, 4383400-4383442, 4383466-4383478, 4383484, 4384808-4384867, 4384881-4384921, 4384935-4384951, 4385106-4385107, 4385118-4385121, 4385123-4385176, 4385187-4385194, 4385357-4385358, 4385379-4385394, 4386726-4386747, 4386764, 4386801-4386845, 4386852-4386858, 4386876-4387126, 4387140-4387186, 4387197-4387215, 4387219, 4387239-4387242, 4387251-4387254, 4387268-4387286, 4387290-4387293, 4387311-4387367, 4387373-4387416, 4387435-4387467, 4387500, 4387513
197ALG1160.8695340501792118213955128853-5128879, 5130969-5131008, 5131023-5131052, 5132600-5132639, 5134813-5134846, 5134872-5134882
198ABCC6160.85505319148936654451216253339-16253358, 16253375-16253410, 16255297-16255367, 16255378-16255379, 16256850-16256858, 16256890-16256894, 16256988, 16256998-16257004, 16257018-16257019, 16257037-16257049, 16259480-16259667, 16259705-16259715, 16259754-16259790, 16263503-16263560, 16263570-16263601, 16263607-16263710, 16267141-16267181, 16267199, 16267217, 16269773-16269774, 16269778, 16269785-16269789, 16313509-16313515
199UMOD160.999479979199171192320360234
200OTOA160.998245614035096342021696614, 21696627-21696631
201COG7160.999135322092522231323403705-23403706
202CLN3160.9848139711465520131728497673-28497675, 28497707-28497721, 28497803, 28498801
203TUFM160.9722222222222238136828854317-28854319, 28857337, 28857343, 28857405-28857427, 28857539, 28857543-28857546, 28857552, 28857557, 28857569-28857571
204ATP2A1160.999001996007983300628898518, 28900112, 28900115
205PHKG2160.992628992628999122130768337, 30768359, 30768363-30768368, 30768371
206FUS160.9759645793801438158131195293-31195294, 31195609-31195612, 31195674-31195684, 31195692-31195695, 31196403-31196408, 31196443-31196453
207NOD2160.9958373358949713312350744812, 50745889-50745900
208SALL1160.999245283018873397551175656-51175658
209RPGRIP1L160.999746707193521394853653045
210SLC12A3160.9903006789524730309356919257-56919262, 56920387, 56920897-56920904, 56920947-56920953, 56920986, 56921852-56921854, 56921940-56921943
211TK2160.99675324675325392466583957, 66584010, 66584016
212HSD11B2160.85632183908046175121867465152-67465326
213LCAT160.85714285714286189132367973939-67973945, 67973962-67973997, 67974168-67974171, 67974180, 67976378-67976384, 67976412, 67976414-67976415, 67976467-67976490, 67976617-67976623, 67976653-67976669, 67976773-67976793, 67976863-67976869, 67976960-67976989, 67977043-67977046, 67977960-67977964, 67977968-67977969, 67977991-67978004
214CDH3160.9903614457831324249068718576, 68718677-68718691, 68721590-68721597
215CIRH1A160.997088791848626206169194271-69194275, 69197033
216COG8160.9526916802610187183969364776-69364792, 69364806, 69364817-69364827, 69373079-69373093, 69373204-69373238, 69373369, 69373412-69373418
217AARS160.998968008255933290770302270, 70303580, 70304159
218HP160.9991809991811122172094348
219GCSH160.902298850574715152281129741, 81129757, 81129789-81129818, 81129820-81129826, 81129858-81129863, 81129874, 81129877-81129881
220MLYCD160.84750337381916226148283932772-83932811, 83932828-83932843, 83932868-83932935, 83932975, 83932979-83933015, 83933019-83933021, 83933057-83933063, 83933085-83933123, 83941861-83941862, 83941866-83941876, 83948766, 83948769
221FOXF1160.9587719298245647114086544211-86544213, 86544273-86544304, 86544590-86544593, 86544722-86544725, 86546688-86546691
222FOXC2160.91699867197875125150686601428, 86601431-86601432, 86601442-86601444, 86601507-86601513, 86601675-86601678, 86601689-86601726, 86601967-86602005, 86602183-86602213
223JPH3160.92656875834446165224787636848-87636858, 87636868, 87636883-87636886, 87636948-87636949, 87678137-87678144, 87678272-87678273, 87678282-87678289, 87678399-87678402, 87678441, 87678473-87678479, 87678603-87678635, 87678640, 87723316-87723327, 87723434-87723442, 87723453-87723454, 87723555-87723559, 87723563, 87723619-87723627, 87723714-87723715, 87723869-87723873, 87723982-87724019
224CYBA160.768707482993213658888709761-88709774, 88709800-88709809, 88709834, 88709844-88709861, 88709867-88709878, 88709894-88709900, 88709948-88709979, 88712580-88712605, 88713242-88713246, 88717383-88717393
225APRT160.7311233885819514654388876133-88876135, 88876192, 88876228-88876233, 88876238, 88876241-88876243, 88876485-88876497, 88876544-88876556, 88876844-88876861, 88876894, 88876897, 88877958-88877964, 88877976-88877978, 88877994, 88878033-88878064, 88878244-88878245, 88878256-88878258, 88878270-88878307
226GALNS160.78075207138305344156988884436-88884484, 88884496-88884523, 88889027-88889030, 88889087-88889101, 88891223-88891265, 88891274-88891277, 88893112-88893127, 88893174-88893199, 88898439-88898445, 88901747, 88901755-88901756, 88901759, 88902147-88902152, 88902609, 88904046-88904047, 88904052, 88907400-88907404, 88907410-88907455, 88907498-88907499, 88908305-88908311, 88909114, 88909210-88909216, 88923193, 88923202-88923270
227SPG7160.94807370184255124238889574826-89574852, 89574899-89574905, 89574975-89574977, 89574994-89575000, 89595903-89595905, 89597178, 89598326-89598330, 89598336, 89598354-89598374, 89598387-89598408, 89598927, 89620248, 89620350-89620357, 89623472-89623488
228FANCA160.9816849816849880436889837022-89837031, 89842165-89842167, 89877343-89877344, 89882945-89883009
229TUBB3160.78861788617886286135389989810-89989852, 89989860-89989866, 90001256-90001277, 90001313, 90001423-90001432, 90001563, 90001574, 90001630-90001645, 90001667-90001771, 90001782, 90001785-90001788, 90001807-90001809, 90001812-90001816, 90001830, 90001883-90001886, 90001923-90001952, 90002042, 90002120-90002145, 90002196-90002199, 90002212
230PRPF8170.998287671232881270081587783-1587794
231CTNS170.951787198669995812033559789-3559803, 3559808-3559810, 3559825-3559826, 3560073, 3561299-3561317, 3561396, 3561404, 3563231, 3563237, 3563240, 3563243, 3563250-3563259, 3563542, 3563547
232CHRNE170.7051282051282143714824802146-4802171, 4802182-4802183, 4802306-4802329, 4802333, 4802360-4802384, 4802493-4802498, 4802518, 4802521-4802534, 4802572-4802579, 4802586-4802679, 4802766-4802800, 4804088-4804089, 4804105-4804109, 4804115-4804132, 4804169-4804202, 4804285-4804288, 4804296, 4804357-4804362, 4804377, 4804400-4804449, 4804469-4804477, 4804841, 4804856, 4805256, 4805266, 4805315-4805358, 4805382, 4805599-4805616, 4806355-4806358
233PITPNM3170.9415384615384617129256358696-6358731, 6358742, 6358774-6358793, 6358877-6358884, 6358953-6358956, 6374503-6374545, 6376064-6376072, 6377762-6377783, 6377838, 6381977-6381978, 6382019-6382021, 6459705-6459726
234GUCY2D170.9676932367149810733127906414-7906497, 7906659-7906681
235ALOXE3170.99906367041199221368013736, 8013774
236HES7170.98377581120944116788024957, 8024970-8024973, 8025014, 8025017-8025021
237MYH8170.999828001375991581410307683
238MYH3170.9869483084320876582310532914-10532921, 10534935-10534937, 10534943, 10535146, 10538817-10538829, 10541382-10541388, 10542666-10542696, 10543004-10543007, 10543382-10543385, 10543387-10543390
239ELAC2170.998790810157193248112898165, 12899912, 12915009
240COX10170.994744744744747133214095345-14095351
241FLCN170.9781609195402338174017117131, 17117134, 17119767, 17122340-17122345, 17124891-17124896, 17127431-17127433, 17131211-17131213, 17131224-17131240
242RAI1170.998426848453079572117697094-17697102
243ATPAF2170.948275862068974587017924457-17924475, 17927951, 17929649-17929670, 17929674, 17931647, 17931661
244MYO15A170.956669498725574591059318023718-18023755, 18023889-18023907, 18023977-18023993, 18024036-18024058, 18024069-18024090, 18024108, 18024111, 18024157-18024174, 18024232-18024321, 18024332-18024374, 18024403-18024406, 18024412-18024419, 18024422-18024425, 18024451-18024474, 18024565-18024571, 18024601-18024622, 18024672-18024673, 18024799-18024824, 18024864, 18024876, 18024879-18024880, 18024940-18024969, 18025057-18025058, 18025658, 18044973, 18044976, 18061141-18061154, 18070950-18070986
245UNC119170.96403872752422672326874718-26874721, 26879356-26879365, 26879370, 26879404-26879413, 26879420
246NEK8170.9543049543049595207927064523, 27064531, 27064870-27064872, 27065124-27065159, 27066146-27066181, 27067549-27067555, 27067943-27067952, 27068545
247SLC6A4170.9894347596407820189328543180-28543188, 28543222-28543232
248HNF1B170.9701314217443250167436047383, 36104715-36104763
249TCAP170.98611111111111750437821689-37821693, 37822214, 37822354
250KRT10170.9606837606837669175538975101-38975160, 38975242-38975248, 38975328, 38978462
251KRT14170.7646229739253334141939738757-39738763, 39739487-39739515, 39739547-39739556, 39739563, 39741304-39741309, 39742571-39742577, 39742614-39742648, 39742757-39742763, 39742784-39742872, 39742883-39742973, 39742994-39743001, 39743024-39743054, 39743074-39743086
252KRT16170.95780590717360142239766280-39766281, 39768490-39768496, 39768658-39768664, 39768740-39768771, 39768897-39768908
253KRT17170.88760585065435146129939776912-39776915, 39776972-39777007, 39780414-39780440, 39780533-39780567, 39780641, 39780686-39780692, 39780705-39780740
254FKBP10170.9891366495140119174939969367-39969378, 39974517-39974523
255STAT5B170.998730964467013236440371740, 40371745, 40371748
256NAGLU170.93906810035842136223240688303-40688316, 40688343, 40688351, 40688360, 40688370-40688402, 40688454-40688456, 40688477-40688516, 40688528, 40688531, 40688534-40688570, 40688655, 40690688-40690689, 40690750
257WNK4170.996516613076113373240932887-40932899
258SLC4A1170.9886695906432731273642335109-42335139
259GRN170.997194163860835178242430118-42430122
260ITGA2B170.9961538461538512312042460938-42460939, 42460975-42460980, 42466665, 42466793-42466795
261PLEKHM1170.92999053926206222317143528014-43528021, 43530736-43530785, 43530874, 43531099-43531105, 43531197-43531221, 43531327, 43531541, 43531584-43531623, 43535535-43535545, 43545866-43545896, 43552485, 43552949-43552955, 43555446-43555484
262MAPT170.9811239811239844233144051826-44051836, 44055787-44055806, 44061081-44061083, 44061165-44061166, 44061232-44061239
263WNT3170.99344569288397106844851043-44851047, 44895962-44895963
264COL1A1170.9940841865756526439548262912, 48262927-48262942, 48263202, 48264025, 48264468, 48265997, 48266790, 48273722-48273723, 48273727-48273728
265RAD51C170.998231653404072113156780592-56780593
266TRIM37170.9948186528497415289557105884-57105889, 57105919-57105927
267AP1S2170.958333333333332662458179541-58179566
268CA4170.99467518636848593958227396-58227400
269TBX4170.99572649572657163859534027-59534033
270ACE170.9974496301963810392161554527-61554529, 61554556-61554562
271TACO1170.99888143176734189461678545
272COG1170.999320421338772294371189282, 71189438
273USH1G170.99927849927851138672916207
274TSEN54170.9626818469323259158173512642-73512643, 73512647, 73512652-73512653, 73512681, 73512684, 73512829, 73512834-73512835, 73512838-73512840, 73512848, 73512851-73512853, 73512919-73512942, 73518364-73518380, 73518385
275ITGB4170.95575059425855242546973726356, 73726479-73726486, 73726493, 73727035, 73733619-73733621, 73736439-73736440, 73738471-73738473, 73745107-73745109, 73746920, 73748592, 73749863-73749869, 73749948-73749968, 73749996-73749999, 73750035, 73750040, 73751782-73751794, 73751801, 73751833-73751834, 73751839-73751844, 73751897-73751924, 73752565, 73752609-73752615, 73752815, 73752832, 73752864-73752865, 73752872-73752873, 73753024-73753058, 73753080-73753098, 73753119-73753158, 73753183-73753184, 73753340-73753341, 73753344-73753345, 73753374-73753383, 73753624-73753633
276GALK1170.89397794741306125117973754317-73754350, 73754363-73754365, 73754368-73754379, 73754386-73754388, 73754530, 73754534-73754548, 73754570-73754604, 73754614-73754622, 73754680, 73759149-73759150, 73759157, 73759186-73759191, 73761066-73761068
277UNC13D170.9275893675527237327373825039-73825054, 73826118-73826127, 73826466-73826474, 73826659-73826675, 73830503-73830512, 73831600-73831610, 73832156-73832159, 73832434, 73832742-73832772, 73832899-73832900, 73836127-73836129, 73838516-73838542, 73838570-73838598, 73838647-73838654, 73838684, 73838689, 73838938-73838939, 73839115, 73839118, 73839124-73839125, 73839138-73839154, 73839240-73839262, 73839599-73839600, 73840310, 73840378-73840379, 73840388-73840393
278ACOX1170.9929399899142714198373947499-73947506, 73947535, 73953553-73953557
279SEPT9170.87052810902896228176175478283-75478308, 75478341-75478344, 75478364-75478395, 75483623-75483634, 75484875-75484882, 75484893-75484920, 75489062-75489063, 75494605-75494646, 75494658-75494663, 75494673-75494740
280GAA170.9776145505421564285978078628, 78078707-78078734, 78082592, 78082595, 78083770, 78083791, 78084740-78084741, 78086387-78086388, 78086680-78086696, 78086753, 78091405, 78091446-78091453
281ACTG1170.9246453900709285112879477716-79477747, 79477954-79477967, 79478019, 79478038, 79478074-79478081, 79478354, 79478499, 79478503-79478507, 79478541-79478561, 79478981
282FSCN2170.152805949966191253147979495564-79495622, 79495639, 79495646, 79495661-79495708, 79495716-79495788, 79495797-79495802, 79495806-79495811, 79495825-79495849, 79495862-79495907, 79495932-79496069, 79496078-79496183, 79496204-79496271, 79496280-79496329, 79496340, 79496350-79496383, 79502078-79502082, 79502085-79502090, 79502119-79502154, 79502165-79502177, 79502192-79502233, 79503172-79503293, 79503648-79503666, 79503674-79503815, 79503901-79504106
283LPIN2180.99925678186548226912951105-2951106
284TGIF1180.99917081260365112063452287
285AFG3L2180.9824561403508842239412356740-12356742, 12367088-12367094, 12371642, 12377030-12377054, 12377074-12377079
286NPC1180.998696898618715383721166271-21166275
287LAMA3180.989302139572091071000221269648-21269684, 21269689-21269708, 21293952-21293953, 21331045-21331048, 21338380-21338408, 21338452-21338458, 21343421-21343428
288DSG2180.999106344950853335729078220-29078222
289LOXHD1180.9981916817359912663644104525-44104536
290MYO5B180.998738056607187554747364149-47364155
291SMAD4180.999397227245331165948603127
292RAX180.9884726224783912104156940190-56940201
293CCBE1180.9909909909909911122157133980-57133989, 57134103
294TNFRSF11A180.9702863317125955185159992588-59992642
295CTDP1180.8967428967429298288677439948-77440054, 77440076-77440115, 77440126-77440128, 77440131-77440149, 77440156-77440219, 77440232-77440236, 77440239, 77440242, 77456016-77456042, 77457963-77457983, 77474703-77474709, 77475188-77475190
296ELANE190.031094527363184779804852329-852395, 852876-853032, 853262-853403, 855564-855654, 855663-855794, 855958-855987, 855997-856052, 856061-856164
297KISS1R190.862990810359231641197917523-917561, 917605-917653, 918557, 918590-918592, 918601-918605, 918656-918668, 919961, 920297, 920327-920345, 920642, 920658, 920684-920713, 920746
298STK11190.6620583717357944013021207023-1207036, 1219374, 1219383-1219406, 1220372-1220374, 1220384-1220422, 1220425-1220472, 1220478-1220504, 1220580-1220599, 1220623-1220631, 1220635, 1220641-1220648, 1220701-1220716, 1221212-1221217, 1221244-1221253, 1221266-1221278, 1221305-1221318, 1221329-1221339, 1221948-1221963, 1222984, 1223019-1223078, 1223124-1223155, 1226459, 1226508, 1226546-1226547, 1226551-1226563, 1226597-1226646
299NDUFS7190.91121495327103576421395401-1395444, 1395475-1395487
300GAMT190.93086419753086568101398711-1398717, 1398736, 1398841-1398844, 1398855-1398858, 1398865-1398867, 1398870-1398873, 1398893, 1399934, 1401370, 1401388, 1401396-1401406, 1401432, 1401459-1401475
301RAX2190.668468468468471845553770745-3770782, 3770813, 3770819, 3770822, 3770825-3770829, 3770846-3770855, 3770860-3770863, 3770892-3770933, 3771525-3771567, 3771602-3771638, 3771736-3771737
302MAP2K2190.7680798004987527912034090596-4090601, 4090608-4090640, 4090658-4090703, 4094461-4094471, 4095417, 4095420, 4097308, 4097340, 4099202-4099203, 4099240-4099255, 4099269-4099307, 4099383-4099412, 4123781-4123872
303NDUFA11190.9953051643192524265903634, 5903692
304TUBB4190.99325842696629913356495631-6495638, 6495736
305C3190.988381410256415849926707087-6707105, 6707150-6707152, 6709801-6709806, 6713289, 6713495, 6713506-6713517, 6714011-6714012, 6714051-6714052, 6714178-6714189
306INSR190.985056640154256241497152803-7152822, 7184385-7184395, 7184531-7184532, 7184571-7184580, 7293865-7293883
307MCOLN1190.984509466437182717437594521, 7595211, 7595252-7595258, 7595260-7595268, 7598512-7598520
308PNPLA6190.9708835341365511639847606514-7606515, 7607521-7607523, 7607906-7607919, 7615273-7615284, 7615292-7615294, 7615903-7615906, 7615925-7615949, 7615958-7615993, 7616248-7616256, 7616293-7616294, 7616303-7616304, 7616320-7616323
309ADAMTS10190.987016908212564333128650016-8650017, 8654209-8654247, 8670144-8670145
310TYK2190.92985409652076250356410463110-10463123, 10463712-10463715, 10463759, 10464208-10464226, 10464253, 10465267, 10465271-10465272, 10468442, 10468463-10468474, 10468679-10468697, 10468726-10468734, 10468802-10468811, 10468814, 10469927, 10475316, 10475424, 10476285, 10476439, 10476456, 10476532, 10488890-10488910, 10488936-10488976, 10488985-10489066, 10489078-10489082
311DNM2190.999617298124761261310828919
312LDLR190.999225706542782258311200277, 11224257
313PRKCSH190.9873976055450520158711558341-11558346, 11558545-11558557, 11559092
314MAN2B1190.95454545454545138303612767774, 12767789, 12768287-12768344, 12768877-12768914, 12768947-12768955, 12769143, 12769279-12769305, 12769322-12769324
315GCDH190.993166287015959131713006844, 13008210-13008217
316CACNA1A190.95053849222178372752113318235-13318248, 13318261-13318264, 13318271-13318272, 13318301-13318302, 13318309, 13318314-13318318, 13318361-13318386, 13318501-13318506, 13318552-13318584, 13318591-13318605, 13318642-13318716, 13318785, 13318795-13318797, 13319606-13319616, 13319692-13319696, 13409466-13409504, 13409563-13409596, 13409606-13409626, 13409726-13409737, 13409853-13409901, 13409929, 13410016-13410023, 13410086, 13410089, 13418614-13418616
317NOTCH3190.9717197817973197696615272034-15272057, 15302248, 15302826, 15302834-15302844, 15302854, 15302899, 15302956, 15303035-15303083, 15311609-15311716
318JAK3190.9952592592592616337517953217, 17953233-17953235, 17953238, 17953840-17953843, 17955173-17955179
319SLC5A5190.9948240165631510193217984947-17984954, 17984965, 17985304
320IL12RB1190.9567621920563186198918177498-18177507, 18180380, 18184377, 18186644-18186645, 18188390-18188395, 18188406, 18191775-18191780, 18197570-18197611, 18197617-18197633
321COMP190.91908531222515184227418893975-18893981, 18895089-18895091, 18895096, 18895118-18895124, 18896536-18896538, 18896576-18896614, 18898399, 18898436-18898446, 18899026-18899027, 18899426-18899429, 18900000, 18900003-18900006, 18900105-18900106, 18900840-18900877, 18901659-18901687, 18901705-18901724, 18902033, 18902049-18902059
322CEBPA190.71123491179201311107733792374-33792380, 33792420-33792423, 33792498, 33792618-33792631, 33792705-33792709, 33792757, 33792766-33792779, 33792850-33792877, 33792919-33792936, 33792943-33792948, 33792965-33792987, 33792989, 33793004-33793043, 33793107-33793128, 33793134-33793180, 33793192-33793206, 33793216-33793251, 33793286-33793311, 33793314-33793316
323SCN1B190.96406443618342980735521726-35521754
324HAMP190.835294117647064225535773483, 35773492-35773532
325MAG190.9537480063795987188135790579-35790589, 35790649-35790662, 35790723-35790746, 35791110-35791114, 35791131-35791163
326PRODH2190.999379267535691161136290977
327TYROBP190.870206489675524433936399072-36399113, 36399123, 36399130
328SDHAF1190.928160919540232534836486261-36486268, 36486334-36486340, 36486401-36486410
329WDR62190.9800962379702591457236579955, 36580172-36580192, 36595441-36595443, 36595712-36595752, 36595856-36595877, 36595904-36595906
330RYR1190.965337037772045241511739003056, 39055599-39055601, 39055622-39055652, 39055703-39055743, 39055759-39056080, 39056159-39056167, 39056195, 39056199, 39056206, 39056210-39056240, 39056254-39056288, 39056310, 39056316, 39056337-39056348, 39075621-39075650, 39075728, 39076627, 39076633, 39078001
331ACTN4190.80957602339181521273639138497-39138523, 39138546-39138547, 39195576, 39205117, 39205194, 39207932, 39207935, 39208578, 39208700-39208714, 39212253, 39214288-39214322, 39214631-39214645, 39214688-39214698, 39214830, 39214848-39214861, 39214875-39214905, 39214945, 39214950-39214968, 39215074, 39215107-39215157, 39215164-39215188, 39216372-39216381, 39216430, 39216467-39216487, 39216497, 39216503-39216535, 39217670, 39217727, 39218591, 39218611, 39218642-39218659, 39219636-39219639, 39219658-39219683, 39219721-39219724, 39219727, 39219730, 39219741, 39219744-39219752, 39219760-39219765, 39219914-39219915, 39219926-39219991, 39219996, 39220016-39220072
332DLL3190.9714593430263953185739994866-39994893, 39997825, 39997828-39997831, 39997866-39997874, 39997939, 39998020-39998028, 39998528
333ATP1A3190.9972811310494810367842471339-42471348
334ETHE1190.98954248366013876544012103-44012110
335BCAM190.9735029146793950188745312396-45312445
336APOE190.952830188679254595445411930-45411966, 45412045, 45412242, 45412248, 45412251, 45412358, 45412373-45412374, 45412381
337BLOC1S3190.99014778325123660945682748-45682753
338SIX5190.87927927927928268222046268848-46268857, 46268861, 46268878-46268900, 46268976, 46269030-46269033, 46269090-46269109, 46269183-46269185, 46269195, 46269199-46269203, 46269749-46269751, 46269918, 46269952-46269954, 46269961-46269975, 46270017, 46270023-46270026, 46270141, 46270145, 46270157, 46270186, 46270201-46270207, 46271313-46271319, 46271594-46271612, 46271664-46271685, 46271783-46271791, 46271840-46271855, 46271876-46271904, 46271926-46271974, 46272037, 46272089-46272098
339DMPK190.9793650793650839189046274303, 46274313, 46274317-46274318, 46280703, 46281058-46281062, 46281432-46281447, 46281853-46281862, 46285577-46285579
340FKRP190.9858870967741921148847259073, 47259432-47259438, 47259663-47259664, 47259747-47259757
341CRX190.952222222222224390048339500-48339521, 48342627-48342647
342DBP190.3496932515337463697849134094-49134125, 49134173-49134218, 49134288-49134309, 49136721, 49136724, 49136770-49136789, 49136847-49136912, 49138837-49139204, 49139226, 49139241-49139247, 49140138, 49140176-49140183, 49140189-49140251
343GYS1190.9932249322493215221449496252-49496254, 49496325-49496326, 49496330-49496339
344MED25190.9955436720142610224450321620-50321626, 50332329, 50335399, 50339202
345MYH14190.9926362297496345611150764732-50764736, 50764793-50764810, 50789899-50789919, 50792883
346KCNC3190.73043095866315613227450823511-50823517, 50823522, 50826275-50826315, 50826357, 50826393-50826394, 50826406-50826435, 50826451-50826467, 50826552-50826571, 50826657-50826665, 50826907-50826931, 50827142-50827179, 50831513-50831515, 50831525-50831540, 50831549, 50831576-50831595, 50831648-50831685, 50831710-50831731, 50831744-50831771, 50831883-50832003, 50832079-50832113, 50832144-50832161, 50832192-50832302, 50832331-50832339
347ETFB190.9769452449567724104151857699-51857715, 51857757-51857763
348NLRP12190.99780288763347318654304528-54304530, 54313592-54313595
349PRKCG190.9928366762177715209454401851-54401862, 54410043-54410045
350PRPF31190.9426666666666786150054621768, 54625943-54625947, 54627130-54627160, 54632491, 54632647-54632683, 54632711, 54632719, 54632729-54632737
351TSEN34190.946409431939985093354695326-54695375
352TNNT1190.923954372623576078955644287-55644288, 55644298-55644300, 55644308, 55644311-55644312, 55644316, 55645255-55645295, 55645434-55645440, 55645500, 55652264, 55652267
353TPO20.9350463954318318228021480884-1480886, 1481092-1481093, 1481098, 1481125-1481126, 1481300, 1488516, 1488520, 1488571-1488573, 1497619, 1499914-1499929, 1520655-1520722, 1520742-1520746, 1520749, 1544386-1544392, 1544406-1544446, 1544467-1544495
354KLF1120.9876543209876519153910183867-10183885
355HADHA20.9882198952879627229226414415-26414441
356OTOF20.629629629629632220599426684786-26684788, 26693479-26693482, 26693524-26693526, 26693529, 26693554-26693556, 26695397-26695403, 26695410-26695416, 26695477, 26695480-26695486, 26695497-26695498, 26696000-26696001, 26696012, 26696061, 26696082-26696108, 26696126-26696144, 26696274-26696303, 26696372-26696390, 26696417-26696432, 26696859-26696876, 26696879, 26696900-26696978, 26697381-26697528, 26698227-26698266, 26698292-26698361, 26698786-26698903, 26698996-26699011, 26699023-26699030, 26699037, 26699048, 26699057-26699077, 26699103-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702190, 26702203-26702252, 26702348-26702424, 26702444, 26702447-26702501, 26703071-26703179, 26703654-26703877, 26705274-26705310, 26705319-26705394, 26705406, 26705414-26705454, 26706400-26706489, 26707342-26707377, 26707416-26707418, 26707442, 26707448-26707459, 26707495-26707501, 26712079-26712084, 26712100-26712163, 26712557-26712608
357ALK20.998149290561389486330143495-30143503
358XDH20.9925037481259430400231571173, 31571178-31571199, 31572620-31572623, 31595186, 31595192, 31598365
359SRD5A220.99343832020997576231805778-31805781, 31805883
360CYP1B120.971813725490246163238301934-38301940, 38301975-38301994, 38302020, 38302024, 38302029, 38302038-38302040, 38302177, 38302192, 38302195-38302197, 38302200, 38302204-38302206, 38302229-38302230, 38302390, 38302413
361SOS120.998500749625196400239285890-39285893, 39285897, 39285900
362ABCG820.9653808110781470202244099143-44099147, 44099160, 44099180-44099229, 44099392-44099405
363LRPPRC20.999283154121863418544223054-44223056
364EPCAM20.984126984126981594547596667-47596681
365MSH220.999286987522282280547630448, 47630451
366MSH620.998775410237575408348010518-48010522
367NRXN120.998192090395488442551255401-51255408
368DYSF20.9952830188679230636071797834, 71801340, 71801429-71801436, 71827914, 71847702-71847720
369SPR20.980916030534351578673114638, 73114686-73114697, 73114701, 73114794
370ALMS120.9997600767754331250473613032-73613034
371MOGS20.999204455051712251474688818-74688819
372EIF2AK320.999104744852283335188926730-88926732
373TMEM12720.935843793584384671796931049-96931074, 96931079-96931081, 96931084-96931087, 96931092-96931094, 96931103-96931112
374ZAP7020.9930107526881713186098340745-98340753, 98340824-98340826, 98340859
375RANBP220.969198966408272989675109345588-109345601, 109347874-109347894, 109352152-109352191, 109357110-109357116, 109363178-109363221, 109367871, 109368074-109368111, 109370398, 109371632-109371633, 109371656-109371672, 109378557-109378565, 109378624, 109382635-109382641, 109382702-109382708, 109382776-109382794, 109383140, 109383229, 109383262-109383274, 109383675, 109383753-109383798, 109384469, 109384505-109384511
376GLI220.972274732199121324761121708842, 121708929-121708965, 121709006-121709016, 121709020-121709021, 121712920, 121746014, 121746081-121746096, 121746132-121746148, 121746205-121746211, 121746235-121746257, 121746561-121746566, 121747080-121747089
377BIN120.98316498316498301782127864436-127864445, 127864500-127864519
378PROC20.98196248196248251386128180696-128180699, 128180702-128180715, 128180722, 128180726-128180728, 128180953, 128184690-128184691
379CFC120.9583333333333328672131280368-131280370, 131280373-131280383, 131280473-131280477, 131280794, 131280797, 131285317-131285323
380RAB3GAP120.99558723693143132946135888280-135888285, 135907965-135907968, 135911412-135911414
381MMADHC20.989898989898999891150426488-150426489, 150426634-150426640
382NEB20.996745769500356519974152402512, 152432676-152432687, 152432755-152432761, 152432793-152432835, 152484158, 152499125
383SCN2A20.9993353273512846018166237634-166237637
384AGPS20.9994941831057211977178257601
385TTN20.9996907668980931100248179435155-179435156, 179643637-179643657, 179644026, 179644035, 179644745, 179648469, 179650756, 179665138-179665140
386COL3A120.9988638945694254401189871663-189871665, 189875042, 189876433
387HSPD120.97677119628339401722198351835-198351862, 198351876-198351882, 198353133, 198353183-198353186
388CASP820.9950525664811481617202122995, 202149667-202149673
389ALS220.99638118214717184974202593251, 202593321-202593337
390BMPR220.99615014436959123117203420793-203420804
391NDUFS120.998168498168542184207018376-207018379
392FASTKD220.97843413033286462133207631620, 207631623-207631637, 207631899-207631902, 207631962-207631980, 207652848-207652854
393SMARCAL120.9989528795811532865217300212-217300214
394PNKD20.902417962003451131158219204506, 219204591-219204621, 219204786, 219204792-219204803, 219204840-219204864, 219205451-219205462, 219206292-219206301, 219206336-219206342, 219206776, 219209558-219209564, 219209623-219209628
395WNT10A20.9936204146730581254219757552-219757555, 219757608, 219757779, 219757789-219757790
396DES20.9971691436659641413220283266, 220283275-220283277
397OBSL120.98769987699877705691220417631, 220435392-220435397, 220435671-220435676, 220435687, 220435731-220435772, 220435893-220435903, 220435952-220435954
398COL4A320.99620985437862195013228029443-228029456, 228029459-228029460, 228029489-228029491
399COL6A320.9990560100692399534238249099-238249103, 238303490-238303493
400AGXT20.98388464800679191179241808283-241808285, 241808352-241808359, 241808682-241808688, 241810782
401D2HGDH20.98403575989783251566242707308-242707332
402C20orf54200.99148936170213121410741784, 741789-741796, 741805-741807
403AVP200.94545454545455274953063340-3063357, 3063641-3063649
404PANK2200.99708114419148517133869795-3869796, 3870257-3870259
405JAG1200.998085862729017365710654157-10654163
406C20orf7200.99903660886321103813765747
407SNTA1200.9710144927536244151832000381-32000389, 32031171-32031203, 32031332, 32031399
408SAMHD1200.999468367889421188135526273
409HNF4A200.9452631578947478142543052701-43052726, 43052769-43052793, 43052826-43052844, 43052859-43052862, 43052874-43052877
410CTSA200.99398797595199149744520238-44520246
411PCK1200.999464954521131186956137761
412GNAS200.95799457994583173857415179, 57415182, 57415455, 57415789-57415816
413GNAS200.84938985228003469311457428450-57428456, 57428543-57428547, 57428657-57428658, 57428693-57428696, 57428716-57428721, 57428943-57428963, 57429072-57429077, 57429082-57429083, 57429088-57429111, 57429119, 57429169, 57429210-57429222, 57429270-57429276, 57429433, 57429436-57429441, 57429455-57429508, 57429579, 57429594-57429664, 57429686-57429735, 57429761, 57429779-57429815, 57429837-57429865, 57429941-57429981, 57430025-57430052, 57430092-57430126, 57430163, 57430371-57430385
414COL9A3200.87104622871046265205561448417-61448494, 61448926-61448976, 61450592-61450625, 61451281-61451286, 61452540, 61452544, 61453116, 61453494-61453496, 61453504, 61453974-61453982, 61455831-61455835, 61456320-61456321, 61456339-61456373, 61457588, 61457593, 61457604-61457608, 61461869-61461882, 61461903-61461916, 61461922, 61467539, 61468562
415CHRNA4200.234076433121021443188461978090-61978206, 61981005-61981138, 61981145-61981175, 61981192-61981216, 61981226-61981258, 61981269-61981273, 61981276, 61981286-61981345, 61981354-61981389, 61981402, 61981409, 61981414-61981452, 61981465-61981494, 61981502-61981720, 61981729-61981732, 61981742-61981781, 61981788-61981794, 61981843-61981850, 61981893-61981992, 61982002, 61982026-61982045, 61982058, 61982067, 61982078-61982081, 61982084-61982107, 61982124, 61982142-61982206, 61982228-61982251, 61982279-61982305, 61982359, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
416KCNQ2200.561664757541051148261962038002-62038003, 62038008, 62038012-62038018, 62038024, 62038034-62038071, 62038079-62038085, 62038103-62038117, 62038129, 62038139-62038156, 62038220-62038324, 62038343-62038390, 62038408-62038477, 62038484-62038510, 62038519-62038558, 62038568-62038573, 62038579-62038598, 62038604, 62038621-62038626, 62038638, 62038653, 62038657, 62038670, 62038691-62038722, 62038728, 62039810-62039814, 62039824-62039825, 62039840-62039846, 62039866, 62039871-62039872, 62039878-62039881, 62044847-62044859, 62044930, 62046256-62046296, 62046302-62046305, 62046308, 62046329, 62046337, 62046423-62046424, 62046445, 62046448, 62065215, 62070030, 62070062, 62070070, 62070951-62070979, 62070999, 62071009, 62071035-62071055, 62073763-62073765, 62073768-62073769, 62073790-62073792, 62073811-62073812, 62073870-62073877, 62076012-62076028, 62076068-62076100, 62076130, 62076141-62076187, 62076597-62076627, 62076633-62076717, 62078146-62078172, 62103521-62103816
417SOX18200.2978354978355811115562679519-62679533, 62679541-62679590, 62679747-62679752, 62679755-62679758, 62679765-62679804, 62679845-62679873, 62679886-62679889, 62679923-62679974, 62679999-62680047, 62680054-62680132, 62680156-62680213, 62680228-62680263, 62680285-62680315, 62680512-62680869
418APP210.999135322092522231327542937-27542938
419IFNGR2210.9260355029585875101434775850-34775915, 34793880-34793888
420RCAN1210.985507246376811175935987197, 35987200-35987204, 35987269, 35987275-35987278
421CLDN14210.712520772037833275-37833313, 37833325-37833344, 37833448, 37833505-37833549, 37833585-37833620, 37833643, 37833684-37833738, 37833834, 37833851, 37833866, 37833910, 37833973, 37833983-37833987
422CBS210.9673913043478354165644492117-44492121, 44492157-44492205
423AIRE210.48901098901099837163845705891-45705908, 45705920-45705921, 45705930-45705961, 45705972-45706013, 45706453-45706456, 45706465, 45706550-45706553, 45706556-45706561, 45706885-45706888, 45706955, 45706968-45707016, 45707424, 45707438, 45707443-45707461, 45708244-45708262, 45708277-45708278, 45708289-45708313, 45708321-45708339, 45709568, 45709574-45709603, 45709621, 45709627-45709662, 45709881-45709886, 45709930-45709951, 45710978-45710989, 45711016-45711048, 45711081-45711087, 45712249-45712284, 45712876-45712913, 45712936, 45712963-45713058, 45713676-45713704, 45713714, 45713718-45713731, 45713780-45713793, 45714284-45714386, 45716266-45716269, 45716280, 45716286-45716328, 45717539-45717576, 45717580-45717588, 45717598-45717610
424ITGB2210.9874458874458929231046308682-46308687, 46308729-46308735, 46313368-46313383
425COL18A1210.706552706552711545526546876239, 46888240, 46888319, 46888526, 46896365, 46896368, 46897789, 46906797, 46906800-46906805, 46906810-46906811, 46906814, 46906840-46906847, 46906854-46906892, 46907411-46907423, 46908332-46908358, 46909400-46909435, 46910189-46910204, 46910216-46910217, 46910236-46910260, 46910772-46910785, 46911139-46911161, 46911167-46911184, 46911192-46911228, 46912602, 46912608, 46913077-46913090, 46913119-46913127, 46913415-46913423, 46913458-46913459, 46913463, 46913467, 46914459-46914485, 46914776-46914826, 46915286-46915311, 46916414-46916482, 46916964-46916996, 46917513-46917529, 46917547-46917575, 46923925-46923946, 46923951, 46923958-46923961, 46924330-46924365, 46924378-46924381, 46924387-46924389, 46924392-46924452, 46924458-46924470, 46925048-46925192, 46925272-46925275, 46925285-46925293, 46925300-46925304, 46925310, 46925315-46925336, 46925344, 46925752-46925854, 46925869-46925880, 46927487-46927501, 46929282-46929314, 46929317-46929321, 46929338-46929382, 46929408, 46929444-46929488, 46929498-46929505, 46929978-46930024, 46930032-46930148, 46931025-46931140, 46932131-46932132, 46932158-46932230, 46932235, 46932243-46932248, 46932251-46932253, 46932257, 46932274-46932285, 46932309-46932312
426COL6A1210.79948169744088619308747401765-47401861, 47402571-47402631, 47402656-47402677, 47404183-47404232, 47404244-47404245, 47404277-47404304, 47404335-47404345, 47404348-47404373, 47404383, 47406451-47406461, 47406503-47406526, 47406541-47406589, 47406858-47406879, 47406904-47406933, 47406956-47406966, 47406972-47406977, 47407072, 47407417-47407425, 47407524-47407550, 47408998-47409040, 47409522-47409528, 47409689-47409692, 47410172-47410198, 47410292-47410312, 47410330-47410331, 47410687-47410693, 47411929-47411932, 47412302-47412312, 47419067, 47423479-47423482
427COL6A2210.73071895424837824306047531449-47531456, 47531929-47531930, 47531952, 47531961, 47532016-47532018, 47532313-47532315, 47532342-47532352, 47536684-47536715, 47537327-47537367, 47537793-47537847, 47538528-47538583, 47538950-47538955, 47538960, 47538993-47538997, 47539028, 47539703-47539720, 47540446-47540480, 47540979-47540995, 47541031-47541034, 47541480-47541508, 47542022-47542025, 47542051-47542071, 47542414, 47542418, 47542789-47542791, 47542809-47542851, 47544606-47544611, 47545509-47545515, 47545699-47545735, 47545765-47545771, 47545857-47545877, 47545908-47545929, 47545965-47546016, 47546134-47546142, 47551868-47551880, 47551910-47551934, 47551962-47552024, 47552040-47552041, 47552051, 47552068, 47552130-47552146, 47552155-47552180, 47552199-47552210, 47552242-47552289, 47552332-47552361, 47552429-47552451
428COL6A2210.6432748538011712234247552199-47552210, 47552242-47552289, 47552332-47552361, 47552429-47552451, 47552467-47552470, 47552520-47552524
429FTCD210.0713407134071341510162647556901-47556987, 47557153-47557204, 47557224-47557248, 47558422-47558484, 47558498-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570378, 47570399-47570403, 47571472-47571651, 47571806-47571864, 47571878-47571894, 47572821-47572949, 47574063-47574209, 47574215-47574246, 47575384-47575398, 47575404-47575417, 47575423-47575437
430PCNT210.989411647188091061001147766061, 47766115, 47766790-47766827, 47775481-47775485, 47786597, 47786635, 47786665-47786685, 47787016, 47787029-47787054, 47817217, 47818044, 47821627, 47821630, 47836721, 47836737-47836738, 47836745, 47842019, 47863847-47863848
431PRODH220.88297282307266211180318901004, 18904403-18904438, 18905839-18905862, 18905890-18905902, 18905961-18905967, 18923528-18923578, 18923588-18923590, 18923628, 18923688-18923721, 18923752, 18923761-18923800
432GP1BB22062162119711093-19711102, 19711377-19711987
433TBX1220.66061827956989505148819747177, 19747182-19747197, 19748428-19748676, 19748686-19748694, 19748699-19748707, 19753446-19753474, 19753491-19753524, 19753923, 19753931, 19753937-19754001, 19754007-19754012, 19754024-19754072, 19754112, 19754120, 19754193, 19754229, 19754292, 19754301-19754311, 19754314-19754326, 19754329, 19754333-19754335, 19754353-19754354, 19754360
434SMARCB1220.998272884283252115824167589, 24175820
435UPB1220.9835497835497819115524919723-24919741
436CHEK2220.957978421351574176129083895-29083933, 29083947-29083965, 29085165-29085171, 29091837-29091844, 29130458
437MYH9220.9906510283868855588336696233, 36696937-36696967, 36698694-36698695, 36702053-36702058, 36708108-36708122
438TRIOBP220.97830374753452154709838119882-38119884, 38119894, 38119902, 38120041, 38120173-38120185, 38122209-38122213, 38122245, 38129332, 38129344-38129349, 38129376-38129419, 38130567-38130570, 38130943-38130947, 38131075, 38131237-38131248, 38131385-38131392, 38131402-38131438, 38165149-38165159
439PLA2G6220.4355828220858927648938508278-38508303, 38508513-38508521, 38508538-38508584, 38509512-38509526, 38509563-38509581, 38509600, 38509604-38509615, 38509619, 38509632-38509656, 38509665-38509707, 38509735-38509748, 38509752, 38509763, 38509778-38509827, 38509858-38509869
440PLA2G6220.79223461379595503242138508168-38508191, 38508215-38508263, 38508278-38508303, 38508513-38508521, 38508538-38508584, 38509512-38509526, 38509563-38509581, 38509600, 38509604-38509615, 38509619, 38509632-38509656, 38511534-38511546, 38511569-38511581, 38511591-38511688, 38512082-38512095, 38512103, 38512153-38512154, 38512179, 38512203-38512210, 38512215-38512218, 38516796-38516799, 38516839, 38516874, 38516884-38516908, 38519102-38519122, 38519148-38519173, 38519230-38519265, 38531001-38531007
441EP300220.9973775017253319724541543927, 41545137, 41547992-41547995, 41548000-41548001, 41551108-41551111, 41560110, 41560129-41560134
442TNFRSF13C220.2594594594594641155542321371-42321382, 42321396-42321412, 42321437-42321439, 42321483-42321489, 42321493, 42321522-42321530, 42322105-42322335, 42322642-42322644, 42322650-42322777
443CYB5R3220.99448123620309590643026924, 43045303, 43045306, 43045315, 43045320
444TRMU220.9573459715639854126646731714-46731734, 46751344-46751371, 46752809-46752812, 46752865
445ALG12220.89570552147239153146750297991, 50297995, 50301389, 50301580-50301587, 50303611-50303634, 50303708-50303710, 50303713, 50303716-50303736, 50304151-50304188, 50307064, 50307091, 50307096, 50307128-50307129, 50307140, 50307252-50307265, 50307284-50307316, 50307412-50307413
446MLC1220.934744268077674113450502467-50502494, 50502575-50502618, 50508980, 50508983
447SCO2220.99500624219725480150962663-50962666
448TYMP220.68184955141477461144950964214-50964347, 50964430-50964449, 50964470-50964570, 50964706-50964719, 50964725, 50964800-50964820, 50964826-50964840, 50964861-50964863, 50964867-50964896, 50964899, 50964902, 50965064-50965085, 50965122-50965163, 50966116-50966118, 50966121, 50966130, 50967638-50967640, 50967999-50968006, 50968011-50968015, 50968047-50968057, 50968066, 50968101-50968119, 50968135-50968138
449ARSA220.9921259842519712152451063673-51063680, 51063840-51063843
450SHANK3220.689549961861171628524451113070-51113132, 51113476-51113488, 51113497-51113679, 51115070-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133203-51133204, 51133215-51133251, 51133287, 51133291, 51133297-51133321, 51133332-51133343, 51133347-51133364, 51135671-51135679, 51135694-51135719, 51135951-51136143, 51143220, 51143281, 51143490, 51158727-51158757, 51158763-51158766, 51158773-51158790, 51158818-51158828, 51158873-51158877, 51158891, 51158910-51158935, 51158959-51159016, 51159026-51159029, 51159032-51159034, 51159039-51159040, 51159170-51159175, 51159234, 51159284-51159295, 51159331-51159343, 51159413-51159420, 51159935-51159946, 51160062-51160068, 51169157-51169176, 51169288-51169314, 51169435, 51169492-51169494, 51169502, 51169518, 51169522-51169532, 51169603, 51169672-51169683
451ITPR130.99987704414115181334669557
452FANCD230.9741847826087114441610088264-10088311, 10089723, 10107165-10107171, 10114941-10114947, 10122862, 10123101, 10130217, 10132043-10132067, 10138091, 10138100, 10140453-10140472, 10140494
453VHL30.872274143302188264210183545, 10183590-10183600, 10183631-10183658, 10183661-10183664, 10183671-10183677, 10183682-10183684, 10183695, 10183702-10183704, 10183708-10183730, 10183871
454TMIE30.891067538126365045946742984-46743032, 46750632
455TMIE30.881104033970285647146742984-46743032, 46750632, 46751074-46751079
456TREX130.88018018018018133111048508022, 48508047-48508074, 48508103-48508104, 48508170, 48508277-48508313, 48508667-48508716, 48508905-48508906, 48508914-48508925
457COL7A130.89122807017544961883548607932-48607933, 48608073-48608076, 48608538, 48609837, 48609963-48609966, 48611298, 48612772-48612773, 48612844, 48612851-48612854, 48612913-48612947, 48612964-48612965, 48613116, 48613128, 48613166-48613181, 48613304, 48613316, 48613686-48613692, 48613703-48613705, 48613977, 48614112-48614121, 48614179-48614204, 48614327-48614352, 48615785, 48615938, 48616366, 48616370, 48616636, 48616690-48616710, 48616837, 48616938-48616948, 48617021-48617047, 48617084-48617101, 48617464-48617473, 48617488-48617490, 48617744-48617777, 48618894-48618916, 48619160-48619179, 48619355-48619376, 48619762, 48619765, 48619920-48619946, 48620067-48620086, 48620601, 48620826-48620836, 48620989-48621019, 48621151, 48621159-48621162, 48621369-48621386, 48621479, 48621751, 48621754-48621755, 48621965-48621968, 48622197-48622202, 48622469-48622474, 48622537-48622548, 48622990-48623022, 48623127, 48623274-48623289, 48623373-48623376, 48623511-48623552, 48623563-48623569, 48623590, 48623612, 48623874, 48623902, 48624097, 48624100-48624106, 48624449-48624477, 48624684-48624723, 48624752-48624754, 48624762, 48624768, 48624858-48624873, 48624957-48624969, 48625226-48625305, 48625341, 48625344, 48625744, 48625764, 48625782, 48625784-48625803, 48625811, 48626075-48626085, 48626090, 48626133, 48626138-48626142, 48626173-48626193, 48626354-48626359, 48626378-48626380, 48626843-48626864, 48626874-48626876, 48627038-48627039, 48627044-48627048, 48627058-48627060, 48627095-48627105, 48627134-48627151, 48627673-48627675, 48627690, 48627714-48627733, 48627741, 48627750, 48628114, 48628119-48628120, 48628141, 48630233-48630235
458SLC25A2030.980132450331131890648936134-48936135, 48936180-48936195
459AMT30.9900990099009912121249459561-49459572
460GNAT130.9895536562203211105350230836, 50232227, 50232245-50232248, 50232254, 50232258, 50232346-50232348
461HYAL130.9870030581039817130850339603-50339616, 50340252-50340254
462TNNC130.895061728395065148652485409, 52485440-52485480, 52485511, 52486125, 52486136, 52486201, 52486215-52486217, 52486254, 52486265
463RFT130.999384993849941162653156408
464TKT30.9770299145299143187253289852-53289861, 53289908-53289940
465FLNB30.99961582789093780957994458-57994460
466ATXN730.91684284707541236283863898275, 63898281, 63898309-63898310, 63898314-63898334, 63898337-63898350, 63898357-63898542, 63898554-63898557, 63898593-63898599
467PROK230.97948717948718839071834152-71834159
468ARL13B30.9968919968924128793761935-93761938
469ACAD930.97802786709539411866128615378, 128618252, 128622905-128622921, 128623298, 128623336, 128631431-128631450
470NPHP330.944903581267222203993132407610, 132409435, 132418223-132418227, 132418245, 132420330-132420331, 132435673-132435687, 132435690, 132437841, 132437846, 132437851, 132438636, 132438640, 132438653, 132440827, 132440846, 132440849-132440852, 132440899-132440913, 132440999-132441011, 132441015-132441074, 132441076-132441090, 132441114-132441143, 132441151-132441199
471FOXL230.97966401414677231131138664871-138664893
472GHSR30.97820163487738241101172166100, 172166106-172166128
473ALG330.908883826879271201317183963019, 183963022, 183966596, 183966611-183966727
474CPN230.98595848595849231638194061805, 194061827, 194061830, 194061969, 194062195-194062198, 194062324-194062330, 194062689, 194062845-194062851
475PDE6B40.918128654970762102565619468, 619472, 619515, 619532-619567, 619638-619662, 619723-619725, 619774, 647641-647649, 647669-647675, 647869-647870, 647902-647932, 648643, 650665, 650677-650713, 651260, 652749, 652768-652795, 656889-656909, 663884-663885, 663896
476IDUA40.490825688073399991962980877-980906, 980915-980922, 980932-981000, 981005, 981011, 981597-981613, 981625-981737, 994416-994419, 994452, 994733-994764, 995274-995312, 995482-995527, 995547, 995574-995595, 995639-995650, 995776-995788, 995804-995805, 995808-995823, 995876-995888, 995935, 996075-996077, 996161-996174, 996201-996273, 996520-996526, 996529, 996559-996732, 996833-996841, 996848-996945, 997133-997227, 997234-997258, 997337-997367, 997378-997404, 997816
477FGFR340.6819118252987277224271795662-1795715, 1795734-1795770, 1800981-1801032, 1801050, 1801054, 1801064, 1801067-1801071, 1801076-1801081, 1801087, 1801113-1801152, 1801166-1801250, 1801486, 1801510, 1803105-1803106, 1803117, 1803142-1803166, 1803197-1803198, 1803201-1803208, 1803233-1803263, 1803348-1803366, 1803431-1803470, 1803567, 1803573, 1803579-1803588, 1803599, 1803602-1803604, 1803613-1803631, 1803670, 1803673-1803676, 1803711, 1803731, 1803745-1803752, 1804657-1804688, 1804713-1804727, 1804786-1804791, 1806059-1806077, 1806089-1806110, 1806160-1806161, 1806167-1806173, 1806584, 1806645-1806680, 1806692-1806693, 1807138, 1807175-1807194, 1807374-1807381, 1807387, 1807480-1807522, 1807536, 1807572, 1807645-1807646, 1807652-1807653, 1807894, 1808032-1808054, 1808322-1808333, 1808564, 1808583-1808587, 1808600-1808611, 1808862-1808863, 1808866-1808875, 1808944-1808965
478SH3BP240.9127625201938616218572819955-2819981, 2820028-2820076, 2820085-2820117, 2831867-2831874, 2833362-2833365, 2834112-2834139, 2835520-2835531, 2835538
479HTT40.9687135433237929594293076600-3076603, 3076604-3076699, 3076715, 3076728-3076789, 3076800, 3076808, 3076814-3076815, 3142369, 3231758, 3234947-3234957, 3234962, 3234966, 3240174-3240176, 3240306-3240319, 3240562, 3240636-3240641, 3241573-3241591, 3241671-3241698, 3241720-3241761
480DOK740.497029702970376215153465115-3465132, 3465233-3465245, 3465254, 3465270, 3465277, 3475134-3475157, 3475196-3475199, 3475208-3475211, 3475218, 3475256-3475266, 3478072, 3478088-3478090, 3478097, 3478100-3478101, 3478129-3478149, 3478155-3478157, 3478175, 3478188-3478236, 3478265, 3487271-3487317, 3494498-3494500, 3494512-3494861, 3494867-3494893, 3494898, 3494926, 3494975-3495064, 3495085, 3495088-3495168, 3495203
481DOK740.201353637901864725913494498-3494500, 3494512-3494861, 3494867-3494893, 3494898, 3494926, 3494975-3495064
482EVC40.991272239006382629795713188-5713213
483WFS140.99738121960344726736303886-6303892
484PKD240.9803921568627557290788928912-88928930, 88928940-88928946, 88928957-88928971, 88928997-88929002, 88929093-88929102
485MTTP40.9992551210428322685100504664, 100529991
486CISD240.8823529411764748408103808512-103808540, 103808569-103808587
487CFI40.99372146118721111752110723108, 110723111-110723120
488ANK240.99991578238167111874114260431
489CTSO40.998964803312631966156874995
490SDHA50.96491228070175701995225652-225659, 233734, 236613-236619, 236673-236699, 240518-240527, 251173-251179, 251214-251218, 251469, 251541, 254599, 254609, 256472
491SLC6A1950.38950131233596116319051201766-1201967, 1208861-1208873, 1208898-1209001, 1210559-1210696, 1212418-1212434, 1212460-1212522, 1212530-1212599, 1213578-1213688, 1214068-1214140, 1214169-1214180, 1216673-1216693, 1216746-1216799, 1216910-1216966, 1216986, 1216995, 1217014, 1217017-1217026, 1217055-1217060, 1219018-1219071, 1219094-1219101, 1219127, 1219136, 1219203-1219222, 1219620-1219639, 1219658-1219695, 1219722-1219768, 1221279-1221281, 1221341-1221347, 1221862, 1221889, 1221982-1221989
492TERT50.52897911150338160133991253851-1253863, 1258759, 1264553-1264567, 1264570, 1266580-1266621, 1266649, 1268635-1268646, 1268662-1268670, 1268687-1268724, 1268730-1268748, 1271234-1271319, 1272300-1272354, 1272369-1272395, 1278756-1278790, 1278799, 1278812-1278834, 1278866, 1278888-1278911, 1279406-1279410, 1279421-1279467, 1279491-1279510, 1279520, 1279531, 1279541-1279585, 1280273-1280276, 1280290-1280358, 1280368-1280453, 1282548-1282549, 1282552, 1282558, 1282608-1282642, 1282664-1282676, 1282709-1282739, 1293459-1293478, 1293515, 1293606-1293607, 1293615-1293645, 1293678-1293737, 1293745, 1293793-1293795, 1293812-1293837, 1293912-1293915, 1293960-1294012, 1294031-1294047, 1294060-1294066, 1294080-1294125, 1294201-1294211, 1294217-1294277, 1294299-1294323, 1294355-1294366, 1294372, 1294425-1294489, 1294506-1294513, 1294543-1294546, 1294554-1294763, 1294772-1294781, 1294887-1294966, 1294976-1294981, 1294983, 1295000-1295033, 1295057-1295084, 1295095-1295104
493SLC6A350.9237788513150814218631409141-1409144, 1409164-1409177, 1409216-1409240, 1409882-1409890, 1409912-1409928, 1409963-1409964, 1414806-1414808, 1414853-1414855, 1414858-1414881, 1420684-1420690, 1420719-1420720, 1422023, 1422031-1422052, 1422059-1422067
494SDHA50.86238532110092453271593246, 1593323-1593329, 1593383-1593389, 1594510-1594539
495FAM134B50.99464524765738149416616827-16616834
496GHR50.998956703182062191742629147, 42629150
497NDUFAF250.99607843137255251060369025-60369026
498SMN250.98192090395481688569362946-69362961
499SMN250.980790960451981788570238370-70238385, 70247773
500HEXB50.9844404548174726167173981141-73981166
501AP3B150.999695585996961328577477380
502LMNB150.96592844974446601761126113285-126113290, 126113416-126113418, 126113423, 126113426-126113431, 126113457-126113500
503SLC22A550.9994026284348911674131705871
504TGFBI50.999512670565312052135364867
505MYOT50.9979959919839731497137217767, 137217782, 137221878
506TCOF150.98989898989899444356149748375-149748381, 149748411-149748415, 149769521, 149771653, 149771656-149771658, 149771669-149771670, 149771685, 149776060-149776083
507NIPAL450.9992862241256211401156887232
508MSX250.9800995024875616804174151665-174151666, 174151724-174151737
509GRM650.943052391799541502634178408658-178408690, 178409950, 178410210-178410222, 178413538-178413541, 178413687-178413699, 178413947, 178421527, 178421536, 178421569-178421599, 178421660-178421698, 178421933-178421945
510SQSTM150.739229024943313451323179247937-179248141, 179249977, 179249988, 179249991, 179250048-179250053, 179250872-179250878, 179250888-179250929, 179250975, 179251013-179251040, 179251071-179251077, 179251212-179251256, 179260145
511FLT450.3206256109481927804092180043367, 180043401-180043407, 180043447-180043470, 180043967-180043994, 180045770-180045863, 180045873-180045920, 180046021-180046109, 180046264-180046287, 180046308-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047665, 180047685-180047715, 180047876, 180047884-180048007, 180048119-180048225, 180048231-180048252, 180048549-180048605, 180048620-180048672, 180048685-180048746, 180048752-180048765, 180048790-180048809, 180048822-180048863, 180048883, 180049737-180049750, 180049798-180049832, 180050935-180051024, 180051043-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057725, 180057731-180057799, 180058682-180058778, 180076488-180076545
512FOXC160.7346570397111944116621610758-1610781, 1610795-1610799, 1610841-1610863, 1610924-1610930, 1611100-1611106, 1611180-1611202, 1611275-1611328, 1611404-1611453, 1611459-1611531, 1611540-1611559, 1611609-1611611, 1611618, 1611658-1611721, 1611735-1611750, 1611800-1611825, 1611901-1611928, 1611974, 1612018-1612029, 1612034, 1612146, 1612163, 1612183
513TUBB2B60.7653213751868531413383224998-3225027, 3225060-3225061, 3225112-3225122, 3225220-3225259, 3225283, 3225294-3225300, 3225308, 3225316, 3225319, 3225328-3225330, 3225337, 3225382-3225448, 3225454-3225495, 3225507-3225510, 3225513, 3225540-3225597, 3225915-3225943, 3225970, 3225981, 3226038-3226040, 3227721-3227730
514DTNBP160.995265151515155105615663069, 15663072-15663075
515ATXN160.9897875816993525244816327853-16327854, 16327857, 16327865-16327867, 16327880-16327888, 16327891, 16327907-16327909, 16327912, 16327915-16327918, 16327921
516HLA-H60.950666666666673775029856303-29856306, 29856330, 29856397, 29856424-29856427, 29856439, 29856593-29856614, 29856679, 29856686, 29856693, 29856711
517TNXB60.94401244167963108192931976412, 31977062-31977098, 31977527-31977528, 31977552, 31977575, 31979421-31979460, 31979556-31979578, 31979980, 31980000, 31980074
518CYP21A260.9932795698924710148832006317, 32006337, 32008754-32008760, 32008868
519TNXB60.989158614188071381272932009138-32009149, 32009797-32009833, 32010309, 32010354, 32011091, 32012275-32012313, 32012410-32012432, 32012834, 32026081-32026082, 32026085-32026089, 32029205, 32063669-32063670, 32064383, 32064501-32064512
520HLA-DQA160.933593755176832609949-32609977, 32610009, 32610387-32610406, 32610535
521HLA-DQB160.99491094147583478632632718, 32632795, 32632832, 32634373
522SYNGAP160.9935515873015926403233388042-33388060, 33388076-33388082
523FANCE60.9869646182495321161135420384, 35420424-35420428, 35423573-35423587
524TULP160.9920196439533513162935479574, 35480001-35480011, 35480592
525MOCS160.78388278388278413191139893422-39893589, 39895068-39895106, 39895112-39895317
526PEX660.9962623173632311294342946467-42946472, 42946650-42946654
527RSPH960.983152827918171483143612853, 43612864, 43612867-43612874, 43612877, 43612907, 43612912-43612913
528RUNX260.9476372924648882156645390442-45390523
529MUT60.999112294718152225349403282, 49409633
530OSTM160.92935323383085711005108395463, 108395571-108395572, 108395588-108395590, 108395592-108395593, 108395689, 108395738-108395746, 108395784-108395797, 108395815-108395853
531GJA160.9939077458659771149121768922-121768928
532ENPP160.9982001439884852778132129178, 132129186-132129188, 132129193
533PEX760.992798353909477972137143868-137143874
534STX1160.998842592592591864144508611
535SYNE160.99977267560809626394152644772-152644776, 152730245
536TBP60.897058823529411051020170871010-170871109, 170871132-170871136
537LFNG70.5289473684210553711402559496-2559922, 2564341, 2564374, 2564883-2564889, 2564935, 2565083-2565106, 2565134-2565137, 2565170-2565178, 2565364, 2565389, 2565398-2565404, 2565880, 2565939-2565940, 2565951, 2566011-2566015, 2566489, 2566555, 2566787-2566796, 2566804, 2566815-2566846
538PMS270.978756276554655525896026390, 6026444, 6026573, 6027014-6027039, 6029440-6029465
539TWIST170.748768472906415360919156551-19156570, 19156648-19156658, 19156685-19156691, 19156694, 19156738-19156758, 19156789-19156793, 19156797-19156866, 19156894-19156911
540HOXA1370.62125107112254442116727239101-27239115, 27239150-27239153, 27239171, 27239183-27239194, 27239198-27239226, 27239247-27239373, 27239406-27239614, 27239626, 27239653-27239696
541RP970.9984984984985166633148858
542GLI370.999156651908084474342005248-42005250, 42005678
543PGAM270.963254593175852876244104601, 44104736, 44104760, 44104950-44104969, 44104971-44104975
544GCK70.9921484653818711140144191870-44191880
545CCM270.76779026217228310133545039933-45039941, 45039957-45039962, 45113085-45113086, 45113092-45113096, 45113123-45113145, 45113879, 45113884-45113920, 45113924, 45113942-45113944, 45113972-45114007, 45115387-45115416, 45115425-45115428, 45115442-45115471, 45115485, 45115526-45115574, 45115584-45115656
546EGFR70.9826589595375763363355086971-55087012, 55087021, 55087031-55087037, 55220289, 55220296-55220303, 55220305-55220308
547GUSB70.9631901840490872195665429336-65429337, 65429388-65429412, 65432718-65432725, 65435269-65435287, 65439320-65439321, 65439398-65439404, 65441133, 65445225, 65445351-65445356, 65446986
548ASL70.71182795698925402139565546897, 65546926-65546929, 65546947, 65547397-65547438, 65548064-65548109, 65551577-65551578, 65551734, 65551738-65551739, 65551743, 65551755, 65551761-65551771, 65551786-65551789, 65551800-65551808, 65552321-65552332, 65552757, 65553794-65553795, 65553798, 65553819-65553857, 65553860, 65553889-65553892, 65554078-65554114, 65554263-65554266, 65554628-65554629, 65554643-65554679, 65557009-65557015, 65557019-65557022, 65557051-65557053, 65557544-65557555, 65557581-65557585, 65557594-65557607, 65557612, 65557635-65557639, 65557644-65557649, 65557755-65557785, 65557795-65557826, 65557853, 65557858-65557872, 65557889
549SBDS70.974767596281541975366456147-66456165
550NCF170.888484848484859282572639957-72639990, 72640033-72640039, 72644230-72644267, 72648736-72648748
551ELN70.91310344827586189217573442518-73442527, 73442553-73442588, 73457011, 73459565, 73462015-73462016, 73462522-73462525, 73462847-73462849, 73462855, 73462861, 73462864-73462881, 73462885, 73466088, 73466091, 73466105-73466125, 73466149-73466169, 73466254-73466313, 73467558, 73467616-73467621
552NCF170.9778346121057126117374193665-74193672, 74202416-74202429, 74202989, 74203002, 74203006, 74203012
553POR70.88644150758688232204375609711, 75612838-75612849, 75613075-75613086, 75614177-75614210, 75614242-75614276, 75614393-75614395, 75614427-75614464, 75614497-75614507, 75614917-75614919, 75614928-75614945, 75614951-75614953, 75614976-75614986, 75615016-75615041, 75615113-75615117, 75615153-75615156, 75615247, 75615263-75615264, 75615267, 75615478-75615485, 75615556-75615559
554AKAP970.9996588195155241172491625051-91625054
555KRIT170.9877883310719127221191851233-91851235, 91852159-91852165, 91852172-91852173, 91852178, 91852195, 91852200-91852211, 91852226
556TFR270.99459684123026132406100238650-100238654, 100238703, 100238706, 100238766-100238771
557SLC26A370.9986928104575232295107430088-107430090
558CFTR70.98604546477605624443117188736, 117188760-117188800, 117188838-117188853, 117188874-117188877
559PAX470.9961240310077541032127251649-127251652
560IMPDH170.907222222222221671800128034510-128034539, 128036731, 128038505, 128040519-128040532, 128049514-128049526, 128049537-128049538, 128049815-128049827, 128049838-128049920, 128049946-128049955
561FLNC70.98972853998533848178128470692-128470695, 128470698-128470703, 128470722-128470723, 128470727, 128470794-128470797, 128470827-128470848, 128470889, 128470895, 128470900-128470903, 128470980, 128471010-128471035, 128477270-128477281
562ATP6V0A470.9968291716210982523138437406-138437413
563BRAF70.98696219035202302301140624400-140624429
564KCNH270.98247126436782613480150671854-150671856, 150671860-150671876, 150671884-150671888, 150674930, 150674961-150674972, 150674979-150675001
565SHH70.592512598992085661389155595594-155595640, 155595647-155595809, 155595823-155595853, 155595861-155595864, 155595874-155595879, 155595885-155595886, 155595889-155595910, 155595920-155595999, 155596046-155596063, 155596088-155596186, 155596191, 155596193-155596204, 155596224-155596261, 155596293-155596302, 155596339-155596341, 155596357-155596360, 155596407-155596420, 155599052, 155599055, 155604783-155604792
566MNX170.76202321724712871206156802527-156802530, 156802533-156802542, 156802638-156802808, 156802857-156802873, 156802893-156802901, 156802905, 156802924-156802979, 156803006-156803024
567CLN880.9941927990708558611719524-1719528
568MCPH180.995614035087721125086302461-6302471
569TUSC380.995224450811845104715397970-15397974
570NEFL80.995710784313737163224813406-24813412
571HGSNAT80.87945492662474230190842995640-42995757, 43014177-43014187, 43024316, 43024359-43024385, 43025745-43025785, 43025818, 43028856-43028886
572RP180.999536393138623647155533805, 55533926, 55533931
573TTPA80.99522102747909483763998490-63998493
574TMEM7080.99872286079183178374888640
575GDF680.998538011695912136897157410-97157411
576KIAA019680.9982758620689763480126091153-126091157, 126096099
577KCNQ380.9980908743795352619133492576, 133492714-133492717
578TG80.9998796195979318307133920497
579NDRG180.9983122362869221185134251214, 134251223
580SLURP180.025641025641026304312143822561-143822694, 143823221-143823275, 143823284-143823340, 143823746-143823803
581CYP11B280.9947089947089981512143993951-143993953, 143994717-143994718, 143999091, 143999199-143999200
582PLEC80.75951618641053338014055144992383, 144994394-144994396, 144995778-144995806, 144995830-144995839, 144995898-144995901, 144996162, 144996241-144996270, 144996384-144996391, 144996525-144996558, 144996987, 144997067-144997072, 144997090-144997092, 144997101-144997131, 144997432-144997461, 144997606-144997610, 144997649-144997652, 144997661-144997674, 144997715, 144997838-144997855, 144997864-144997866, 144997870-144997871, 144997877-144997885, 144997984-144998025, 144998074-144998076, 144998154-144998191, 144998377-144998407, 144998458-144998464, 144998471-144998477, 144998484-144998518, 144998541-144998558, 144998567-144998642, 144998669-144998676, 144998680-144998682, 144998699-144998707, 144998759-144998771, 144998774-144998786, 144998818-144998831, 144998846-144998875, 144998904-144998924, 144998940-144998982, 144999023-144999028, 144999034, 144999045-144999090, 144999141-144999159, 144999224-144999236, 144999263-144999297, 144999309-144999343, 144999361-144999393, 144999399-144999477, 144999490-144999559, 144999567-144999615, 144999644-144999646, 144999649-144999657, 144999665-144999666, 144999669-144999670, 144999682-144999728, 144999735-144999782, 144999811-144999839, 144999849-144999943, 144999953-145000001, 145000030-145000052, 145000958, 145000966, 145001224-145001242, 145001471-145001475, 145001614-145001631, 145001646-145001654, 145001725-145001752, 145001813-145001829, 145001864-145001905, 145002024-145002083, 145002089-145002100, 145002116-145002151, 145003320-145003356, 145003372-145003386, 145003582-145003608, 145003699-145003720, 145003814-145003843, 145003874-145003878, 145003896, 145003900, 145003905-145003923, 145003929-145003930, 145003936, 145003961-145003971, 145004216-145004218, 145004223, 145004312-145004319, 145004341-145004345, 145004348, 145004351, 145004381-145004411, 145004433-145004466, 145004594-145004621, 145005709-145005772, 145005821, 145006117, 145006120-145006195, 145006298-145006402, 145006568-145006584, 145006605, 145006611-145006648, 145006655, 145006671-145006675, 145006689-145006691, 145006697-145006729, 145006803-145006840, 145006875-145006880, 145006961-145006970, 145006973, 145006978-145006979, 145007004-145007166, 145007187, 145007190, 145007193, 145007197, 145007201-145007202, 145007260-145007279, 145007372-145007395, 145007404-145007447, 145007463-145007467, 145007484, 145008172-145008197, 145008204-145008240, 145008506-145008521, 145008542, 145008600-145008613, 145008803-145008812, 145008888-145008898, 145008982-145009016, 145009039-145009097, 145009179-145009184, 145009222-145009269, 145009366-145009405, 145009429-145009451, 145010016-145010067, 145010092-145010103, 145010109-145010148, 145010163-145010165, 145010179-145010182, 145011147-145011181, 145011197-145011239, 145011333-145011378, 145011390-145011410, 145012319-145012321, 145012348-145012355, 145012363-145012408, 145024365, 145024381, 145024525-145024578, 145024626, 145024656-145024688, 145024703-145024733, 145024753-145024796, 145024846-145024874
583GPT80.458081824279018081491145729744, 145729754-145729755, 145729760-145729762, 145729767, 145730072, 145730255-145730262, 145730381-145730386, 145730416, 145730432-145730436, 145730447, 145730452, 145730494-145730504, 145730629-145730642, 145730652, 145730656-145730657, 145730700-145730758, 145730767-145730865, 145731231-145731310, 145731378-145731404, 145731414-145731514, 145731615-145731641, 145731656-145731679, 145731697-145731715, 145731722-145731727, 145731738-145731789, 145731884-145731933, 145731942, 145731953-145731996, 145732009-145732039, 145732114-145732129, 145732139-145732188, 145732217-145732226, 145732306-145732336, 145732339, 145732362-145732383
584RECQL480.3672456575682422953627145736824-145736875, 145736888-145736938, 145737066-145737158, 145737169-145737172, 145737294-145737314, 145737320-145737328, 145737345-145737392, 145737398-145737422, 145737440-145737450, 145737527-145737663, 145737681-145737699, 145737775-145737846, 145737860-145737892, 145737900-145737930, 145738025-145738099, 145738103-145738106, 145738124-145738134, 145738149-145738154, 145738230-145738284, 145738290-145738331, 145738362-145738461, 145738469-145738521, 145738601-145738768, 145738770-145738785, 145738794-145738864, 145738955-145739065, 145739074-145739096, 145739312-145739352, 145739388-145739463, 145739573-145739574, 145739590, 145739625-145739653, 145739675-145739690, 145739699-145739728, 145739854-145739857, 145739863-145739864, 145739870, 145739873, 145739886-145739909, 145740331, 145740371, 145740392-145740425, 145740443-145740456, 145740720-145740766, 145740796-145740797, 145741154, 145741157-145741169, 145741186-145741191, 145741244-145741274, 145741380-145741384, 145741393, 145741411, 145741435-145741466, 145741510-145741539, 145741554, 145741559-145741569, 145741573-145741586, 145741591-145741592, 145741597, 145741619-145741666, 145741712-145741745, 145741757, 145741763, 145741821-145741863, 145741883, 145741888-145741889, 145741893, 145741923-145741934, 145741971-145742030, 145742091-145742111, 145742436-145742445, 145742494-145742536, 145742554-145742561, 145742801-145742892, 145742986-145743019, 145743085-145743121, 145743138-145743168
585DOCK890.99650793650794226300396801-396803, 396855-396868, 406998-407002
586VLDLR90.99542334096111226222622217-2622228
587KCNV290.993284493284491116382718020, 2718977-2718986
588GLIS390.982098102398855027934117926-4117941, 4118000-4118008, 4118033-4118048, 4118250, 4118373-4118380
589SLC1A190.99936507936508115754490765
590GLDC90.968005223636969830636645355-6645384, 6645432-6645499
591APTX90.999028182701651102932973501
592B4GALT190.9741019214703431119733166880-33166886, 33167120, 33167123-33167145
593GNE90.996905393457127226236249300-36249306
594GRHPR90.946301925025335398737424842-37424845, 37424914-37424953, 37424962-37424970
595TRPM690.999340912835724606977390928-77390931
596VPS13A90.999790026246722952579827898, 79827908
597ROR290.9883474576271233283294495692-94495693, 94712188-94712198, 94712207-94712225, 94712245
598FOXE190.724598930481283091122100616208, 100616254-100616278, 100616299-100616336, 100616345-100616389, 100616606-100616639, 100616681-100616737, 100616749-100616766, 100616802-100616812, 100616845-100616848, 100616884, 100616891-100616894, 100617024-100617026, 100617030-100617032, 100617040-100617043, 100617093-100617098, 100617108-100617158, 100617169-100617172
599TGFBR190.96494708994709531512101867488-101867519, 101867536-101867546, 101867550, 101867554-101867556, 101867563-101867568
600NR5A190.99278499278499101386127245168-127245169, 127255338, 127262544, 127262737-127262738, 127262822, 127265358-127265359, 127265647
601LMX1B90.97497765862377281119129376821-129376837, 129376857-129376867
602ENG90.97673242286292461977130578293-130578300, 130586718-130586725, 130587613-130587631, 130588078-130588084, 130588831-130588834
603DOLK90.765615337043913791617131707967-131707974, 131708015-131708017, 131708067-131708073, 131708109-131708140, 131708214-131708217, 131708277-131708304, 131708360-131708379, 131708452-131708454, 131708549-131708562, 131708567, 131708621-131708640, 131708775-131708782, 131708821-131708822, 131708829-131708831, 131708842, 131708898-131708944, 131709011, 131709044, 131709120-131709128, 131709162-131709204, 131709219-131709236, 131709292-131709314, 131709390, 131709426-131709432, 131709507-131709581
604TOR1A90.9989989989991999132586341
605POMT190.98530762167126322178134394317-134394326, 134394335, 134394818-134394825, 134397434-134397446
606SETX90.9982574060244148034135158728-135158741
607TSC190.98969957081545363495135771927-135771937, 135771984-135771988, 135771995-135771996, 135772571-135772572, 135779053-135779057, 135781005-135781010, 135781273-135781276, 135785974
608CEL90.691765741963897002271135937396-135937398, 135937454-135937455, 135939832-135939856, 135939919-135939922, 135940036-135940038, 135940048, 135940536-135940541, 135940550, 135940553-135940554, 135940579-135940608, 135942017-135942020, 135942022-135942032, 135942043, 135944062-135944099, 135944215, 135944520-135944527, 135944583-135944589, 135945985-135946018, 135946390, 135946479, 135946551-135947000, 135947024-135947045, 135947067-135947076, 135947085-135947119
609SURF190.9091915836101982903136220728-136220729, 136220732, 136221746-136221750, 136221774-136221775, 136223124-136223135, 136223167-136223175, 136223279-136223329
610ADAMTS1390.933006535947712874284136293755, 136293774-136293891, 136295059-136295080, 136295098, 136295165-136295178, 136298544-136298546, 136298619-136298621, 136302038-136302049, 136302060, 136303479, 136305637-136305646, 136307583-136307605, 136307823, 136307843, 136308609, 136310166-136310173, 136310866-136310869, 136310891-136310905, 136310911, 136313720-136313721, 136320722, 136321280, 136321759-136321761, 136321764-136321766, 136321783-136321784, 136321789-136321794, 136324198-136324201, 136324216-136324232, 136324278, 136324282-136324288
611DBH90.95846817691478771854136501566, 136501570, 136501661, 136505020-136505027, 136505029-136505030, 136505111-136505114, 136516786-136516792, 136517368-136517371, 136518094-136518100, 136522240-136522242, 136522259, 136522268-136522280, 136522320-136522344
612SARDH90.892636924192962962757136535716-136535790, 136535808-136535860, 136536657-136536660, 136536665, 136536671-136536672, 136536679, 136536686, 136536707-136536726, 136536780-136536785, 136536789-136536793, 136555502-136555529, 136559380-136559386, 136568053-136568058, 136573451, 136577803-136577831, 136578160-136578174, 136582480-136582484, 136584128-136584164
613COL5A190.862243973173837605517137534034-137534101, 137534125-137534142, 137582758-137582766, 137582792, 137582816, 137582819-137582827, 137582840, 137582844, 137582853-137582860, 137582867-137582873, 137582881-137582925, 137591757-137591779, 137591804-137591871, 137591886-137591911, 137591937-137591949, 137593017-137593018, 137593043, 137593070-137593179, 137620605-137620611, 137630326-137630341, 137642642-137642654, 137642663-137642667, 137642703-137642705, 137642711-137642728, 137644442-137644484, 137645737-137645747, 137646136, 137646147-137646148, 137646152, 137646168, 137648625, 137650089-137650095, 137653779-137653788, 137653796-137653824, 137655560-137655583, 137657537-137657539, 137657573-137657576, 137658892, 137658895-137658899, 137660293-137660309, 137664636-137664642, 137666743-137666758, 137671988, 137674525-137674528, 137674537-137674543, 137676843-137676869, 137676872-137676874, 137676910-137676932, 137677842, 137677848, 137677852-137677854, 137693810-137693815, 137693829-137693830, 137694760-137694770, 137694807, 137694810, 137710551-137710563
614LHX390.9586435070306501209139089367, 139090895-139090905, 139094813-139094850
615INPP5E90.490956072351429851935139324854, 139325558-139325559, 139325563-139325564, 139326276-139326280, 139326293-139326317, 139326337-139326389, 139326397-139326407, 139326417-139326437, 139326931-139326962, 139326988-139327038, 139327416, 139327419-139327468, 139327487-139327503, 139327510, 139327513, 139327608-139327610, 139327670-139327731, 139328531-139328566, 139329209-139329242, 139329262-139329277, 139333064-139333081, 139333090-139333099, 139333130-139333142, 139333155-139333187, 139333195, 139333213-139333248, 139333264-139333270, 139333335-139333419, 139333462-139333506, 139333530, 139333554-139333659, 139333666-139333871
616NOTCH190.09663536776212869277668139390523-139390608, 139390634-139390684, 139390709-139391059, 139391065-139391293, 139391314-139391340, 139391355-139391366, 139391375, 139391389-139391544, 139391554-139391768, 139391786-139391817, 139391824-139392010, 139393351-139393378, 139393408-139393448, 139393564-139393604, 139393623-139393626, 139393631-139393672, 139393677, 139393693-139393710, 139395004-139395299, 139396200-139396237, 139396256-139396266, 139396277, 139396288-139396335, 139396356-139396360, 139396362-139396365, 139396465-139396540, 139396724-139396774, 139396786-139396797, 139396802, 139396814-139396940, 139397634-139397644, 139397656-139397741, 139397759-139397763, 139397772-139397782, 139399125-139399352, 139399372-139399556, 139399762-139399890, 139399944-139399984, 139399997-139400056, 139400061-139400077, 139400082-139400123, 139400129-139400132, 139400145-139400333, 139400979-139401015, 139401019-139401022, 139401028-139401029, 139401057-139401091, 139401168-139401383, 139401404-139401420, 139401757-139401814, 139401823-139401824, 139401833-139401889, 139402407-139402591, 139402684-139402701, 139402714-139402771, 139402789, 139402804-139402808, 139402814-139402837, 139403322-139403396, 139403403-139403480, 139403519-139403523, 139404185-139404362, 139404374-139404413, 139405105-139405257, 139405604-139405644, 139405650, 139405667-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410436, 139410451-139410478, 139410502-139410546, 139411724-139411736, 139411748-139411796, 139411804-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413054, 139413059-139413061, 139413063-139413145, 139413155-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438487-139438547, 139440178-139440238
617AGPAT290.7299880525687226837139568216-139568217, 139568232-139568240, 139568359, 139569223, 139569251-139569259, 139571068-139571074, 139571458, 139571461-139571465, 139571571-139571588, 139571894, 139581628-139581650, 139581656-139581709, 139581715-139581809
618SLC34A390.648333333333336331800140127034-140127054, 140127111, 140127146-140127155, 140127340-140127368, 140127485, 140127514, 140127728, 140127739-140127750, 140127832-140127856, 140128085, 140128092-140128094, 140128119, 140128315-140128325, 140128330-140128359, 140128370-140128393, 140128561-140128563, 140128573-140128648, 140128674-140128681, 140128688, 140128697, 140128719, 140128722-140128728, 140128868-140128912, 140128919-140128946, 140128962-140128984, 140129169, 140130411-140130414, 140130438, 140130463-140130516, 140130518-140130519, 140130530-140130532, 140130539, 140130553-140130560, 140130580-140130633, 140130639-140130645, 140130668-140130708, 140130722-140130751, 140130778-140130801, 140130812-140130814, 140130828-140130842, 140130848-140130868
619EHMT190.837567359507316333897140513481-140513501, 140605442-140605482, 140611084-140611634, 140728840-140728841, 140729276-140729282, 140729341-140729347, 140729387-140729389, 140729405
620SHOXX0.78156996587031192879591633-591654, 591693-591774, 591789-591792, 591796-591811, 591847-591851, 591867, 591877-591891, 591906-591909, 595467-595483, 595508-595525, 595541-595548
621CSF2RAX0.363984674329583013051401600-1401635, 1401655-1401672, 1404671-1404689, 1404720-1404807, 1407412-1407430, 1407482-1407505, 1407687-1407714, 1409230-1409235, 1409252-1409325, 1409331-1409386, 1409398, 1409401, 1413221-1413354, 1414320-1414349, 1419384-1419510, 1422154-1422255, 1422816-1422846, 1422855, 1422868-1422882, 1422889-1422890, 1424402-1424411, 1428365-1428372
622KAL1X0.990699951052371920438699983-8700001
623GPR143X0.99607843137255512759733773, 9733776-9733779
624PHKA2X0.999460625674222370818925211, 18925214
625RPS6KA3X0.999550157444891222320185747
626PHEXX0.999555555555561225022266059
627ARXX0.9751332149200742168925031549-25031567, 25031653-25031672, 25031777-25031779
628RPGRX0.9005492917028344345938145167-38145180, 38145190-38145202, 38145209-38145212, 38145292-38145309, 38145324-38145528, 38145540-38145596, 38145616, 38145621, 38145654-38145679, 38145701, 38145732, 38145735, 38145911, 38145958
629NYXX0.9910096818810513144641333540-41333545, 41333960-41333966
630FTSJ1X0.9979797979798299048341122-48341123
631SYPX0.99575371549894494249048082-49048085
632CACNA1FX0.9976407145264614593449061740-49061743, 49063205-49063206, 49065735, 49067065-49067071
633TAF1X0.9894403379091960568270586190-70586249
634BRWD3X0.9972268441486415540980064949-80064963
635OCRLX0.9974131559497472706128674437-128674443
636SOX3X0.9992542878448911341139586481
637SLC6A8X0.929769392033541341908152954033-152954053, 152954079-152954080, 152954106-152954190, 152954223-152954248
638ABCD1X0.97319034852547602238152990886-152990892, 152990938-152990965, 152991249-152991268, 152991371-152991375
639MECP2X0.9812959251837281497153297867-153297870, 153363084, 153363087-153363109
640OPN1MWX0.9936073059360771095153455595-153455601
641OPN1MWX0.9936073059360771095153492713-153492719
642FLNAX0.99622356495468307944153581004, 153581488-153581491, 153581494, 153581497, 153581509, 153581731-153581741, 153586635, 153588399-153588406, 153596230-153596231
643TAZX0.8846641318124291789153640181-153640245, 153640479-153640481, 153640516-153640538
644USP9YY0.9979134063641116766814928059-14928074
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3PRNP-M129Vhomozygous0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5TYR-M1Vhet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
2APOB-P2739Lhomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R1128HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-T244Ihomozygous0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5SFTPA1-R219Whet unknown0.085Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCSK1-S690Thomozygous0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCSK1-N221Dhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1TRIM9-L653Fhomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TRIM9-V338Ihomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
1C14orf104-D768GhomozygousUnknown
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
1NEK3-K291ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1UTP14C-G85Vhomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1UTP14C-R319Hhomozygous0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SIM1-A371Vhomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SIM1-P352Thomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NOD2-N289Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests
1NOD2-V955Ihet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1CPN2-Q509WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G126Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYBA-V174Ahet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYBA-Y72Hhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-C276Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COL6A2-E106Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARSA-R496Hhet unknown0.055Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.183Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PINK1-A340Thet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HRNR-Q2781Hhomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-HR2748QHhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-Y2746Hhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1F5-M2148Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-R207Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SRPX2-S150FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1PGAM4-R86Hhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CROCC-R408Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-A631Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
1CROCC-R637Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.353 (possibly damaging)
1CROCC-R841Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-G845Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-R918Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-LE1031RKhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-E1037Qhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
1CROCC-R1395Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-AEAQ1429VVGRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BRCA2-Q2925Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BRCA2-S3366Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thomozygous0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TOE1-R341Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHX58-N461Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-T76Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KRTAP4-8-A168Thomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP4-8-C30*het unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KRTAP4-8-P27Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNNI3K-I787Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACADM-E47Khet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5KCNJ12-R39Qhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5KCNJ12-R40Hhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5KCNJ12-M71Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-E139Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5KCNJ12-T142Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-P156Lhet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-L211Fhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KCNJ12-E239Khet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-I249Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-S343Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.041 (benign)
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5WNK4-T790Nhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.693 (possibly damaging), Testable gene in GeneTests
0.5TBX4-G6Ahomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.5GNGT2-Q17Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5AKR1A1-N52Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MPO-M519Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCRN2-M323Vhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCRN2-K103Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD300LG-R82Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ADAM11-L93Shet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-R141*het unknown0.027Unknown
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
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5STIL-H985Rhomozygous0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GFI1-S36Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH2-Y516Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DNAH2-V2761Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5DNAH2-T3600Ihet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTF3C1-R1630Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC5A11-F258Lhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERCC4-R415Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYH11-A1241Thomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-N1291Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPV1-T469Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-M315Ihomozygous0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV1-P91Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DHX33-R621Chet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DHX33-H483Dhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0513-R100Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5LRRC50-E432Dhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R913Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-M487Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZFHX3-Q2014Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ZFHX3-V777Ahet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFHX3-S72Ahet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFHX3-A62Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCN3-L117Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TH-V108Mhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H4-P1109Lhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5NAPSA-A310Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2B6-R487Chet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF792-N425Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRP1-F561Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NRP1-V179Ahet unknown0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLL3-L142Qhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EID2-A6Thet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5MSH6-G39Ehet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYSF-E489Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TAS1R1-K347Ehomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAS1R1-R507Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.414 (possibly damaging)
0.5OR13A1-Y269Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5RAB40B-P263Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-L313Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-R934Qhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CANT1-R19Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-D595Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-K307Nhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF562-G141Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKR1C3-E77Ghet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKR1C3-P180Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AKR1C3-R258Chet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ARHGAP22-T410Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OTUD3-A333Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALPK2-I2157Vhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-R1884Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.699 (possibly damaging)
0.5ALPK2-H1767Yhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ALPK2-Q1579Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.183 (benign)
0.5ALPK2-A1551Shet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5ALPK2-P1449Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5ALPK2-F1389Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-H1174Phet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5ALPK2-EDTST1006Delhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-N916Khet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K829Nhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5ALPK2-R825Thet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-G810Shet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ALPK2-H719Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.5ALPK2-K2Thomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAX-D44Ehomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5POLG-E1143Ghet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT6B-I365Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6B-N227Shet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-G111Dhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL2A1-G1405Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PUS7L-V197Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-W1570Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NUPL1-A34Thet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUPL1-S166Phet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.514 (possibly damaging)
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OR6C2-L209Phet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5OR6C2-V266Ehet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACAD10-A911Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK160367-G206Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK160367-D257Ehomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-M356Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-V377Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPRS-Y419Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5EPRS-D308Ehomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSCN-Q502Rhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-D2106Ehet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-G3780Rhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OBSCN-G4039Rhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OBSCN-H4381Rhet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4516Whet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-S4642Chet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-D4962Ghet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-L5269Vhet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5OBSCN-Q5891Ehet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5OBSCN-A7172Vhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-T25Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhomozygous0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5BDNF-V148Mhomozygous0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUS81-R37Hhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5MUS81-R180Phet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MUS81-R350Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.919 (probably damaging)
0.5CCDC87-L738Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROBO3-A1062Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ROBO3-RS1367Delhomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WNK1-D87Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD52-Y415*het unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5BIRC2-A506Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.292 (possibly damaging)
0.5TRIM64-I58Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-R162Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q405Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A22-L186Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A22-A170Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-V4433Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-D644Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-L462Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HERC1-E3722Dhomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HERC1-S3152Fhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5HERC1-G1696Ahomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-N371Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPM1-V1395Ihet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-E1281Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-Q456Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIF23-T51Ihet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
0.5AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FANCI-A86Vhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFA-T171Ihet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5CYP1A1-I462Vhet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.488 (possibly damaging)
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG2-E723Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FLG2-G137Ehet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FOXG1-A90Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FOXG1-P107Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H92Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLCE1-R548Lhomozygous0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NCF2-K181Rhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-V7Lhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETV3L-M318Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.761 (possibly damaging)
0.5ETV3L-G263Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.759 (possibly damaging)
0.5PEAR1-S234Phomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEAR1-S381Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5PEAR1-N903Dhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VSX2-D291Nhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I485Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF486-Y210*het unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CCDC66-G4G*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5CCDC66-D5Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC66-E592Qhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC66-S606SPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CWH43-H689Nhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CWH43-K696Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5POR-P228Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POR-A503Vhet unknown0.234Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGF-E304Khet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GATAD1-R233Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PROM1-S19Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR1-S602Ihomozygous0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR1-N248Shomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN3-P390Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5GPRIN3-L39Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT4-I966Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT4-Q1257Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5FAT4-G3524Dhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5FAT4-S3873Nhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMAA-Q363Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1109-R2222Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTTP-H297Qhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-G661Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BST1-R145Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPOX-V294Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5RP1-N985Yhomozygous0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.5RP1-C2033Yhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5ADRB3-W64Rhet unknown0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KBTBD8-F179Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZXDC-P562Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging)
0.5ZXDC-P118Ahomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DOK7-K28Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-VC81GAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMB1-I1547Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LAMB1-Q1022Rhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABP1-T16Mhomozygous0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5COL6A6-A370Thomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.86 (probably damaging)
0.5COL6A6-Y1655Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FAM194A-R549Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM194A-L426Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-L105Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.5HMMR-R93Chet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HMMR-R333Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HMMR-V369Ahet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HMMR-A485Vhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5SOX30-Q429Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5FAT2-Q3953Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5FAT2-M3631Ihet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-A2907Thet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-G1515Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-V1462Mhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-P248Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PNRC1-P39Shet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5FILIP1-L282Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-A809Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q253Hhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T109Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-EL106AVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G102Rhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-EV98DIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-D29Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-P32Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E34Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhet unknown0.288Unknown
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
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1586-F75Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC36A3-R190Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.371 (possibly damaging)
0.5SLC36A3-K167Ehomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5DFNA5-V207Mhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests
0.5DFNA5-P142Thet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests
0.5NPY-L7Phet unknown0.028Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.137 (benign)
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V3094Ihet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-I207Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH12-I284Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDH12-T21Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TXNDC3-R43Khomozygous0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SYNE1-R8735Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S5943Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-T5426Mhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A1608Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-S523Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-YA519CVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWDE-F1485Chomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C1050Yhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G1009Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C890Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-E869Khet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Y804Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R385*het unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5VWDE-G340Dhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMPS-G213Ahomozygous0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-T77Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PSMF1-F36Chet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSMF1-H174Rhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5PSMF1-R242Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BPIL1-D359Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5NOTCH1-L1481Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOTCH1-WD1474CChet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAZ2B-D1805Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5B4GALT5-G61Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.303 (possibly damaging)
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AGXT-P11Lhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SARDH-M648Vhomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SARDH-R614Hhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V31313Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D29731Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S19140Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P16014Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBH-V136Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBH-A211Thet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-R525Qhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B3-G289Shet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INVS-G801Ehet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNAPC4-D40Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XIRP2-P625Ahet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP2-Y632Hhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP2-R1801Hhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP2-R2242Qhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP2-L2598Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging)
0.5XIRP2-V2782Ihet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP2-A3085Thet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP2-I3197Vhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP2-G3377Ehet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMT1-V305Ihet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BMPR2-S775Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSDMC-M475Thomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-I94Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HACL1-I151Fhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH6-V141Mhomozygous0.928Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-G1694Ahomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-Y2119Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DNAH6-V2550Ahet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DNAH6-K2859Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5COL5A2-T1230Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HDAC10-S545Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HDAC10-M541Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VPS13B-T1068Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-K1129Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NBEAL1-I2330Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PKHD1L1-H923Rhet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-T1192Ahet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5PKHD1L1-G1223Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKHD1L1-P1430Lhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5PKHD1L1-R1514Shet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-Y1638Chet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5PKHD1L1-V1965Lhet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKHD1L1-H3050Qhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL18A1-T187Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-E1489Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRODH-P406Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-T275Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-VP18AQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5GRHL2-K9Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.375CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375CDAN1-R863Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HTT-A231Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.375ERCC2-A172Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ABCA4-P1948Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ABCA4-R943Qhet unknown0.032Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests
0.375ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375F13A1-A621Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-V91Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-I109Vhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S112Chet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153YSIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S223Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-H229Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-E296Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MASP2-D371Yhomozygous0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MASP2-R118Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPTBN2-R1123Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPTBN2-S825Ghomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25FAM181B-R367Phet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM181B-E180Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A2-S270Ahet unknown0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-T49Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASH1L-T2895Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASH1L-T1771Ahomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EDARADD-M9Ihet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GGH-Q175Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PEX2-C184Rhet unknown0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25ADRB1-S49Ghet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25ACADSB-I316Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CALHM1-M323Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CALHM1-G282Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.059 (benign)
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-A21Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN4A-S524Ghet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMPRSS3-I253Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSPY26P-V291Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TSPY26P-P246Hhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25CCDC57-K907Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC57-R904Ghomozygous0.551Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC57-M833Thomozygous0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC57-Q810Khomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC57-A777Thomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC57-D776Nhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC57-R774Ghomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-P231Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABHD15-T334Ahet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABHD15-V140Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C21orf58-P194ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C21orf58-P189Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HPS4-Q620Hhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-V547Mhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.544Unknown
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 unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD33-A14Vhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.25CD33-G156Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD33-G304Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THAP8-R189Whet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25THAP8-R185Qhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THAP8-P157Shet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.25THAP8-R98*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KDM4B-L370Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KDM4B-K710Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SP100-V399Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SP100-M826Thet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25HMHA1-R139Hhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HMHA1-E259Dhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.25HMHA1-R1117Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ATIC-P224Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AKAP5-R40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AKAP5-T203Ihomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25UGGT2-R941*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25UGGT2-S328Ahet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC26A2-I574Thet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDHB10-R543Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDHB10-EA684Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDHB10-Y751*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf33-R59GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf33-F70Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25CDSN-N527Dhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25F12-A207Phet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WDR36-H212Phet unknown0.000Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25WDR36-D658Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-V282Ihet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.138 (benign), Testable gene in GeneTests
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L1050Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-T1048Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1042Vhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R1040*homozygous0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-L1038Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-A863Vhomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q250Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-V183Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDH3-L479Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDH3-Q563Hhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DPEP2-P201Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DPEP2-Y163*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ADAMTS17-M482Thet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTS17-T446Ihet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTS17-S216Lhet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTS17-EA111DShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAMTS17-L103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25AP3B1-V585Ehet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0IGF2-A223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,767,488,069 bases (96.8% of callable positions, 89.8% of total positions)

Coding region coverage: 31,959,244 bases (96.0% of all genes, 96.9% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in