huA06676 - GET-Evidence variant report

Variant report for huA06676

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1MTRR-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
2FCGR2B-I232TLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.132664A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.1
3HFE-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
4SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
5TFR2-R455QLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.00232385Hypothesized to be increase risk or severity of hemochromatosis, but only speculations based on a couple sporadic observations (no statistical significance).1
6TP53-P72RLowUncertainUncertain pathogenic

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

Unknown, Homozygous
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
8PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
9CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
10NPC1-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
11CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
12KCNJ11-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
13IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
14CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
15NEFL-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
16COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
17LOXL1-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
18MED25-A335VLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
Proposed by Leal et al 2009 to cause recessive Charcot-Marie-Tooth disorder in an extended Costa Rican family. (Reported via OMIM to ClinVar, see: http://www.ncbi.nlm.nih.gov/clinvar/RCV000001387/) According to ExAC allele frequency data, we would expect 1 in 25,000 to 30,000 people to be homozygous for this variant. Charcot-Marie-Tooth type 2 has a prevalence of 1 in 10,000. If this hypothesis were true, homozygosity this variant alone would theoretically account for more than a third of cases. As such we would expect strong evidence in literature for an effect, but we have only a single report of a family (where linkage can confound analysis) and no other reports.1
19COL6A3-T492SLowUncertainUncertain benign

Unknown, Heterozygous
0.00204499Probably benign.1
20COL6A3-D491HLowUncertainUncertain benign

Unknown, Heterozygous
0.00176613Probably benign.1
21TYR-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
22VWF-G2705RLowUncertainUncertain benign

Unknown, Heterozygous
0.0460123Probably benign, seems to be considered an uncommon polymorphism.1
23ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
24SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
25NOTCH3-H1133QLowUncertainUncertain benign

Unknown, Heterozygous
0.0131995Probably benign.1
26FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
27DSPP-R68WLowUncertainUncertain benign

Unknown, Heterozygous
0.143045Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.1
28APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
29PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
30PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
31TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
32TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
33RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
34PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
35TPCN2-G734ELowUncertainUncertain benign

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

Exome coverage: 31604971 / 33282720 = 94.96%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.3235581622678441526138955553-955753, 957581-957842, 970657-970704, 976045-976052, 976070-976133, 976144-976260, 976553-976633, 976643-976768, 976858-976868, 976880, 976892-976990, 977002-977009, 977013, 977021-977022, 977025, 977055-977082, 977345-977351, 977396-977471, 977478-977542, 978656, 978681-978682, 978685-978691, 978698-978721, 978739-978823, 978918-978919, 978922-978923, 978938, 978953-978954, 978960-979008, 979017-979106, 979208-979214, 979218-979224, 979251-979291, 979310-979313, 979333-979403, 979489-979490, 979506-979507, 979531, 979551, 979563-979601, 979615-979617, 979622, 979721-979733, 979743-979744, 979747, 979758-979806, 980597-980598, 980615-980617, 980651-980654, 980768, 980781-980784, 980791-980794, 980798-980805, 980811-980828, 980831, 980900-980903, 981122-981158, 981177-981186, 981209-981252, 981344-981364, 981390-981412, 981433-981434, 981450-981451, 981540-981557, 981606-981635, 981639-981642, 981789-981797, 981803-981825, 981829, 981840-981841, 981852-981953, 981972-981973, 981977-982005, 982018, 982032-982038, 982043-982045, 982048-982053, 982076-982109, 982200-982335, 982719-982752, 982763-982788, 982808-982834, 982967-982979, 982990-982994, 983018-983053, 983158-983255, 983275, 983392-983453, 983461-983504, 983527-983535, 983547-983590, 983596-983745, 984247-984424, 984622-984786, 984797-984820, 984946-984980, 985025-985054, 985065-985137, 985152-985175, 985283-985295, 985312-985395, 985613-985660, 985681-985684, 985691-985698, 985839-985843, 985855, 985860, 985879-985914, 985967, 986118-986176, 986179, 986633-986749, 986833-986902, 986942-986979, 986990-987006, 987146, 987155-987195, 989134, 989181-989227, 989302, 989309-989323, 989349-989350, 989353-989356, 989828-989850, 989858-989893, 990218-990300, 990335-990341
2GABRD10.3833701250919883813591950863-1950930, 1956389, 1956423-1956429, 1956461-1956470, 1956478-1956480, 1956774, 1956797-1956805, 1956812-1956814, 1956818-1956822, 1956970, 1956973-1956988, 1956994-1957031, 1957049-1957068, 1957095-1957109, 1957118-1957127, 1957134-1957177, 1959026-1959067, 1959624, 1959636, 1959646, 1959665-1959666, 1959677-1959678, 1959690-1959717, 1960550-1960607, 1960628-1960651, 1960671, 1960674-1960682, 1960686, 1960690-1960692, 1960699, 1960990-1961047, 1961056-1961059, 1961065-1961091, 1961110-1961145, 1961164-1961167, 1961170-1961177, 1961181-1961189, 1961192-1961193, 1961422-1961615, 1961637-1961654, 1961669-1961721
3PEX1010.748216106014272479812337923-2337937, 2338041-2338058, 2338159-2338179, 2338190, 2338257-2338267, 2339966-2339975, 2339980, 2340007-2340018, 2340023-2340040, 2340048-2340051, 2340176-2340186, 2340270-2340281, 2341890, 2343830-2343941
4NPHP410.9395001167951425942815927115-5927118, 5927123, 5934549-5934550, 5934695-5934712, 5934934-5934938, 5934942, 5935149, 5935153, 5947376-5947382, 5947495-5947515, 6027365, 6038330-6038473, 6046225-6046235, 6046262-6046300, 6046311, 6046342, 6046349
5ESPN10.7263157894736870225656485016-6485268, 6485279-6485304, 6488291-6488298, 6488309-6488353, 6488378-6488401, 6488429-6488470, 6500347, 6500382-6500398, 6500413-6500437, 6500446-6500489, 6500686-6500689, 6500699-6500700, 6500709-6500798, 6500810, 6500831-6500856, 6500867, 6500994-6500997, 6501059, 6501062, 6505835-6505860, 6505914, 6505917-6505918, 6508811-6508815, 6508851-6508892, 6509059, 6509072, 6509078, 6512128, 6520084-6520090
6PLEKHG510.9470053308247116931896527892-6527893, 6527960-6527968, 6528036, 6528101, 6528247, 6529183-6529185, 6529225-6529227, 6529701-6529715, 6530582-6530587, 6530796, 6530830-6530834, 6530879, 6530930-6530944, 6531082-6531091, 6531137-6531138, 6531583, 6533410-6533416, 6534101, 6534533-6534548, 6534560, 6534565-6534570, 6534626-6534647, 6535183, 6535186, 6535533-6535540, 6535574-6535582, 6556561, 6556566, 6556575-6556584, 6556611, 6556619-6556622, 6557380-6557383
7PEX1410.9691358024691435113410684443-10684455, 10689743-10689757, 10690009-10690011, 10690014, 10690019, 10690027, 10690034
8TARDBP10.9638554216867545124511082356-11082362, 11082599-11082636
9MASP210.92285298398836159206111097865, 11102932-11102935, 11102973-11102974, 11103429-11103459, 11103492-11103504, 11103508-11103509, 11103542-11103573, 11103587-11103592, 11105465-11105477, 11105497, 11105501-11105508, 11105555, 11105586, 11106661-11106667, 11106696-11106701, 11106771-11106775, 11106780, 11106786, 11106989-11106995, 11107068-11107078, 11107140-11107145
10MTHFR10.997970573313044197111854011, 11855234-11855235, 11855386
11PLOD110.9862637362637430218411994837-11994838, 12025546, 12026322-12026342, 12026350, 12030751-12030755
12MFN210.9903254177660522227412067114-12067119, 12067155-12067166, 12067186-12067188, 12067251
13CLCNKA10.86821705426357272206416353241-16353244, 16353257, 16355724-16355725, 16356277, 16356460-16356471, 16356514-16356527, 16356548-16356570, 16356976-16357018, 16357048-16357055, 16357106-16357112, 16357144, 16357156-16357169, 16358221-16358262, 16358725-16358736, 16358747-16358786, 16358938-16358957, 16358983-16358984, 16360106-16360116, 16360139-16360153
14CLCNKB10.78488372093023444206416371027-16371034, 16373030-16373050, 16374525-16374530, 16374533, 16374838-16374849, 16375028-16375043, 16376380-16376386, 16377017-16377047, 16377372-16377378, 16377540-16377542, 16378009, 16378019-16378033, 16378205-16378230, 16378243-16378289, 16378302-16378315, 16378693-16378710, 16378722-16378728, 16378743-16378788, 16378804, 16378831, 16378845-16378846, 16378854, 16378863-16378866, 16378896, 16378899-16378905, 16380136-16380156, 16380185, 16380214-16380267, 16382170-16382185, 16382200-16382202, 16382947-16382966, 16382982-16383003, 16383364-16383367
15ATP13A210.96415467118261127354317312716-17312750, 17313596-17313629, 17313664-17313681, 17318810-17318811, 17320285, 17322564-17322581, 17322939-17322946, 17323515-17323520, 17326540, 17338230-17338233
16PINK110.9770904925544140174620960087-20960097, 20960122, 20960141-20960143, 20960146, 20960151-20960153, 20960242-20960243, 20960252-20960268, 20960412-20960413
17ALPL10.999365079365081157521903900
18HSPG210.962583485124474931317622149809-22149811, 22149840-22149893, 22149917-22149933, 22149937, 22149945, 22150119-22150126, 22150198-22150204, 22150643-22150649, 22150801-22150808, 22151079, 22151103, 22154581-22154585, 22154637-22154645, 22154816, 22155546, 22155876-22155912, 22155982-22155983, 22155987-22155990, 22155994-22155997, 22156096-22156097, 22163411, 22165454-22165458, 22165461-22165465, 22176637, 22176980-22176981, 22178382, 22181194-22181236, 22181418-22181420, 22181423-22181429, 22181797-22181798, 22181829, 22186073-22186112, 22186151-22186154, 22186425, 22186489-22186495, 22186670-22186675, 22186701, 22186707-22186709, 22188250-22188275, 22190618-22190619, 22190630, 22190647-22190654, 22190660, 22190701-22190704, 22191519, 22191560-22191563, 22191855-22191858, 22192211-22192216, 22198695-22198717, 22199137-22199140, 22199520-22199540, 22199559-22199571, 22200945, 22206649, 22206885, 22206890, 22207009, 22207938, 22263648-22263710
19WNT410.9270833333333377105622469339-22469415
20GALE10.997134670487113104724123616-24123618
21HMGCL10.99795501022495297824134766, 24134769
22FUCA110.9835831548893623140124194392-24194398, 24194614-24194622, 24194672, 24194676-24194680, 24194694
23LDLRAP110.953613807982744392725870190-25870221, 25870234-25870240, 25870274-25870277
24SEPN110.89028776978417183166826126722-26126904
25KCNQ410.90134099616858206208841249766-41249815, 41249830, 41249836, 41249846-41249915, 41249941-41249958, 41249978-41250012, 41250020-41250024, 41250065-41250079, 41284294-41284303, 41296962
26LEPRE110.996834011759387221143232424-43232429, 43232630
27DHCR2410.9909735654416514155155352595-55352608
28PCSK910.9913419913419918207955505553-55505555, 55521710, 55521715-55521722, 55521728, 55521765-55521769
29COL11A110.99083745647792505457103364244-103364292, 103364547
30GSTM110.9665144596651422657110230510-110230531
31NOTCH210.980987055016181417416120539665-120539714, 120539916, 120548022-120548058, 120548091-120548098, 120572547, 120572569-120572575, 120611984-120612020
32PRPF310.9985380116959132052150305602, 150315903, 150315906
33FLG10.996635483341544112186152276755-152276761, 152277439, 152277445, 152277448, 152278431-152278437, 152279406, 152280274, 152280927-152280933, 152282812, 152283099, 152283736-152283742, 152284208-152284209, 152284246, 152284717, 152285039, 152285043
34GBA10.9991645781119511197155184891
35PKLR10.99188405797101141725155269983, 155269989-155270001
36NTRK110.97992471769134482391156830727-156830729, 156830763-156830807
37F510.99041198501873646675169510377-169510404, 169510499-169510527, 169510647-169510653
38MYOC10.99669966996751515171621527-171621531
39NPHS210.9930555555555681152179544812-179544814, 179544865, 179544867-179544870
40CFH10.9981060606060673696196716353-196716359
41PKP110.99449793672627122181201294204-201294215
42ADCK310.924382716049381471944227152833, 227152902-227152938, 227153088-227153089, 227153093-227153102, 227153105, 227153411-227153431, 227169760-227169805, 227171520-227171526, 227171795-227171806, 227172974, 227174429-227174437
43GJC210.2015151515151510541320228345460-228345508, 228345522, 228345525, 228345532-228345533, 228345543-228345603, 228345626-228345642, 228345645, 228345650-228345654, 228345661-228345684, 228345687, 228345738-228345902, 228345909-228345951, 228345960-228345970, 228345974-228345976, 228345986-228345989, 228345994-228346112, 228346122-228346159, 228346192-228346233, 228346239, 228346260-228346273, 228346280-228346404, 228346423-228346457, 228346460-228346499, 228346510, 228346519-228346560, 228346564-228346565, 228346567-228346575, 228346582-228346779
44ACTA110.908289241622571041134229567259-229567261, 229567277, 229567507, 229567627-229567636, 229567755-229567773, 229567828-229567830, 229567914-229567932, 229568017-229568023, 229568091, 229568121, 229568125-229568127, 229568145-229568170, 229568322-229568324, 229568351-229568357
45RYR210.99979871175523314904237821249-237821251
46PHYH100.998033431661752101713342017-13342018
47PTF1A100.7061803444782229098723481460, 23481578-23481625, 23481634-23481636, 23481649, 23481664-23481687, 23481700-23481760, 23481767, 23481770, 23481773, 23481787-23481811, 23481836-23481848, 23481881, 23481886, 23481895-23481906, 23481937-23481953, 23481970-23481994, 23482046-23482061, 23482120-23482158
48PDSS1100.998397435897442124826986651, 26986665
49RET100.9715994020926895334543572707-43572776, 43596001-43596004, 43596056-43596062, 43600566-43600569, 43606857-43606862, 43619241-43619244
50CHAT100.996439697374288224750822339-50822340, 50822405-50822410
51EGR2100.996505939902175143164573487-64573491
52CDH23100.985481304693721461005673439209-73439219, 73439233, 73442253-73442258, 73462310-73462357, 73462404, 73464696-73464707, 73464732, 73464765-73464775, 73464801-73464804, 73464851-73464858, 73464867-73464887, 73466795-73466797, 73468965-73468968, 73490286-73490294, 73490334-73490337, 73550119-73550120
53LDB3100.95375457875458101218488441469-88441479, 88466288-88466328, 88466350-88466375, 88476198-88476204, 88476463-88476471, 88476497-88476503
54BMPR1A100.999374609130711159988683146
55GLUD1100.9636255217650661167788854388, 88854418-88854431, 88854442-88854447, 88854458-88854464, 88854477, 88854487, 88854492-88854521, 88854526
56PLCE1100.999855261253441690996022350
57HPS1100.98243114909782372106100177373-100177388, 100177403-100177423
58FBXW4100.9975786924939531239103454320-103454322
59HPS6100.947164948453611232328103825277-103825320, 103825379-103825382, 103825431-103825459, 103825487-103825492, 103825692-103825731
60CYP17A1100.9973804846103541527104590730-104590733
61EMX2100.994729907773394759119302799, 119302938-119302940
62HTRA1100.766458766458773371443124221169-124221304, 124221312-124221394, 124221423-124221442, 124221484-124221528, 124221573-124221587, 124221592, 124221596-124221623, 124221632-124221640
63UROS100.992481203007526798127477438-127477443
64HRAS110.8561403508771982570532649-532652, 532655, 532701-532712, 532737-532740, 532746-532749, 533475-533482, 533766-533793, 533830, 533929-533941, 534212-534217, 534262
65TALDO1110.901380670611441001014747482-747515, 747525-747565, 763352, 763360, 763363, 763366, 763384-763386, 763399-763400, 763409, 763412-763421, 763430, 763436, 763457, 763468, 763516
66SLC25A22110.31995884773663661972791924-791967, 791980-792006, 792019-792062, 792142-792217, 792304-792343, 792360-792362, 792406-792458, 792553-792727, 792873-792893, 792908-792914, 792920-792942, 792955, 792968-792975, 793529-793558, 793584-793585, 794485, 794509-794513, 794776-794806, 794827-794855, 794866-794901, 794988-794992
67PNPLA2110.537293729372947011515819719-819905, 821686, 821694, 821709, 821718-821741, 821770-821777, 822014-822023, 822498, 822606, 823535-823539, 823542-823543, 823572-823577, 823698, 823728-823746, 823760-823789, 823802-823803, 823806-823809, 823832, 823849, 823998-824012, 824029-824033, 824059-824062, 824068-824110, 824118-824130, 824314-824341, 824347-824359, 824362-824365, 824386-824435, 824523-824524, 824552-824566, 824586-824622, 824630-824692, 824709-824731, 824740-824776, 824786-824789, 824801-824816, 824831-824853, 824861
68CTSD110.6707021791767640812391774864-1774873, 1775131, 1775231-1775256, 1775279-1775285, 1775330-1775368, 1778568-1778616, 1778667-1778681, 1778758-1778776, 1780199-1780232, 1780241-1780278, 1780746-1780758, 1780811, 1780821, 1780842-1780867, 1782556-1782592, 1782614, 1782618-1782619, 1782678-1782698, 1785022-1785089
69TNNI2110.86338797814208755491861466-1861468, 1861653-1861658, 1861852-1861864, 1862058-1862061, 1862266-1862288, 1862347-1862372
70TNNT3110.347490347490355077771946329-1946340, 1947925-1947934, 1950373, 1951040-1951047, 1954951-1954978, 1954998-1955067, 1955161-1955218, 1955229-1955238, 1955562, 1955578-1955582, 1955590, 1955614-1955675, 1955776-1955879, 1956059-1956097, 1956103-1956116, 1956142-1956149, 1958193-1958224, 1959679-1959722
71H19110.99626517273576410712017755, 2018090-2018091, 2018168
72IGF2110.454289732770753887112154217-2154252, 2154262-2154265, 2154273-2154278, 2154313-2154446, 2154747-2154804, 2154833-2154866, 2156597-2156616, 2156653-2156657, 2156665, 2156675-2156688, 2156734-2156747, 2156753, 2161424-2161472, 2161503-2161508, 2161513-2161518
73TH110.28126984126984113215752185463-2185484, 2185494-2185589, 2186462-2186476, 2186492-2186523, 2186534-2186595, 2186904-2186993, 2187232-2187236, 2187245-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188677, 2188683-2188715, 2189096-2189129, 2189137-2189163, 2189328-2189330, 2189344-2189345, 2189369, 2189372-2189385, 2189405-2189407, 2189723-2189757, 2189775-2189792, 2189799-2189851, 2190915, 2190919-2190922, 2190927-2190929, 2190951, 2190962-2191039, 2191059, 2191063-2191073, 2191083, 2191087, 2191920-2191959, 2191968-2192000, 2192980-2192981, 2192993, 2193005
74KCNQ1110.7607090103397348620312466329-2466492, 2466500-2466587, 2466598-2466599, 2466603, 2466610-2466636, 2466642-2466682, 2591858-2591893, 2591903-2591917, 2592576, 2592590-2592615, 2593245, 2593248-2593254, 2593260-2593289, 2593293-2593294, 2593325-2593339, 2594147-2594158, 2604666, 2608817, 2609945-2609960
75CDKN1C110.0494216614090439049512905234-2905241, 2905247-2905295, 2905313-2905325, 2905341-2905344, 2905355-2905364, 2905900-2906719
76SMPD1110.99683544303797618966411931-6411936
77ABCC8110.9976822587442111474617498299-17498309
78LDHA110.998998998999199918422487
79WT1110.9858429858429922155432456588-32456600, 32456648-32456656
80ALX4110.995954692556635123644286702, 44331260-44331263
81PEX16110.9855907780979815104145935971-45935974, 45935980-45935986, 45937376, 45939271, 45939282-45939283
82F2110.9844836811128929186946745009-46745020, 46747559-46747562, 46747712-46747721, 46750320-46750321, 46750997
83MYBPC3110.9898039215686339382547360229-47360230, 47367908, 47368996, 47369004, 47371472-47371473, 47371590-47371599, 47371644-47371651, 47372084-47372088, 47372804-47372810, 47373004, 47374184
84SLC39A13110.9650537634408639111647431827-47431830, 47436408-47436437, 47436847-47436850, 47436861
85RAPSN110.9289749798224488123947459526-47459569, 47460283-47460298, 47463204-47463208, 47463455-47463468, 47469584-47469592
86NDUFS3110.99496855345912479547600646-47600648, 47602503
87BEST1110.9926052332195713175861723203, 61723261-61723270, 61723276, 61723283
88BSCL2110.9892008639308915138962458779-62458793
89SLC22A12110.84957882069795250166264359096-64359105, 64359286-64359292, 64359301, 64359339-64359346, 64359397-64359430, 64360291, 64360306-64360307, 64360999, 64361117, 64361170-64361177, 64361220-64361232, 64366093, 64366339-64366347, 64367163-64367178, 64367218-64367300, 64367313-64367340, 64367922-64367947, 64368334
90PYGM110.9806247528667549252964521027, 64521037-64521045, 64521084-64521090, 64521125, 64521358-64521360, 64521369, 64521739-64521749, 64525786, 64525909, 64527130, 64527156-64527162, 64527190-64527195
91MEN1110.9837662337662330184864571981, 64571986-64571991, 64572237-64572247, 64572557-64572561, 64573198-64573204
92CST6110.98666666666667645065779605, 65780314-65780318
93SPTBN2110.97518472047958178717366463755, 66463821, 66468062, 66468200, 66468203-66468232, 66468389-66468410, 66468513-66468521, 66468532-66468533, 66468574-66468575, 66468623, 66468736-66468753, 66472279, 66472290, 66472627-66472630, 66473245, 66473248-66473250, 66475000, 66475099, 66475107-66475114, 66475117-66475119, 66475129-66475136, 66475140, 66475161-66475182, 66475213, 66475216, 66475219-66475220, 66475232, 66475254, 66475744-66475770, 66483343-66483344, 66483373
94PC110.9886909810573940353766617469, 66618260, 66618392-66618394, 66618568, 66620747, 66631270, 66631323, 66633696-66633697, 66638616-66638617, 66638641-66638650, 66638828-66638830, 66638898-66638901, 66638907, 66638941-66638942, 66639174-66639180
95CABP4110.8333333333333313882867222932-67222966, 67223018, 67223064-67223068, 67223073, 67223088, 67223099-67223111, 67223122, 67223127, 67223183-67223218, 67223659-67223667, 67223673, 67225072-67225076, 67225849, 67225890, 67225930, 67225947-67225970, 67225981-67225982
96AIP110.3252769385699967099367254481-67254483, 67254489, 67254492, 67254499, 67254529, 67254545, 67254556, 67254601-67254607, 67254621, 67254626, 67254635, 67256738-67256926, 67257509-67257588, 67257594-67257613, 67257627-67257685, 67257787-67257895, 67257901-67257928, 67258277-67258422, 67258445-67258464
97NDUFS8110.7472353870458116063367799626, 67799657, 67799665, 67799760, 67799772, 67799780, 67799783-67799785, 67799790-67799799, 67800422-67800429, 67800435, 67800444, 67800667, 67800708-67800729, 67803744-67803772, 67803790-67803803, 67803806-67803818, 67803830-67803836, 67803931-67803947, 67804009-67804036
98TCIRG1110.64259927797834891249367808793-67808826, 67809220-67809242, 67810117-67810119, 67810134, 67810137, 67810184-67810218, 67810236, 67810247-67810294, 67810320-67810326, 67810442-67810471, 67810474, 67810492-67810498, 67810838-67810839, 67810877-67810925, 67811038-67811075, 67811106-67811120, 67811293-67811366, 67811613-67811655, 67811718, 67811749-67811801, 67812460, 67812531-67812540, 67814901-67814907, 67814986, 67815006, 67815009-67815012, 67815114-67815115, 67815128-67815171, 67815214-67815215, 67815236-67815271, 67816366, 67816369-67816370, 67816400, 67816558-67816590, 67816635-67816638, 67816665, 67816677, 67816701-67816723, 67816752, 67816756, 67816759, 67817148-67817163, 67817177-67817241, 67817469, 67817500-67817533, 67817604, 67817609-67817642, 67817670-67817709, 67817955-67817957, 67817968, 67817981, 67817985-67817986, 67817996-67818003, 67818083-67818092, 67818106, 67818121-67818131, 67818208-67818223, 67818283-67818286
99LRP5110.97339108910891129484868080183-68080273, 68131245, 68131369-68131380, 68131383-68131391, 68201234, 68207347-68207357, 68216326, 68216330, 68216521-68216522
100IGHMBP2110.9932930918846420298268671425, 68671441-68671444, 68671474-68671479, 68671506, 68704012, 68704080-68704086
101DHCR7110.997899159663873142871146643, 71146664-71146665
102MYO7A110.73510830324911761664876858844-76858855, 76868008-76868016, 76883794-76883796, 76883813-76883819, 76883827-76883838, 76883845-76883848, 76883865-76883893, 76885808-76885823, 76885829, 76885846-76885958, 76886418-76886492, 76886509-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893511, 76893519-76893645, 76894113-76894155, 76894161-76894169, 76894177-76894202, 76895650-76895671, 76895717-76895737, 76895751-76895760, 76900389-76900401, 76900407-76900491, 76900507, 76901095-76901116, 76901120, 76901150-76901162, 76901169-76901184, 76901742-76901766, 76901780-76901816, 76901883-76901899, 76903255, 76903266-76903290
103MTMR2110.996894409937896193295657106-95657111
104APOA1110.9353233830845852804116706539-116706542, 116706607-116706623, 116706627, 116706722-116706728, 116706787-116706802, 116706868-116706874
105TECTA110.99288476411446466465120989023-120989030, 120989091-120989096, 120989141, 120989402-120989427, 120999033-120999037
106WNK1120.99370541334452457149862732-862738, 862836-862850, 862893-862894, 862978, 862983-862989, 863085-863092, 863107, 863146, 863161, 863164, 863174
107CACNA2D4120.99941417691857234141904931-1904932
108CACNA1C120.998018594726411365612788754, 2794934-2794940, 2800351-2800355
109VWF120.9805733238569116484426125328-6125344, 6125813-6125819, 6127532-6127538, 6127726-6127744, 6127891, 6127919, 6127943, 6128064-6128105, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132003-6132033
110TNFRSF1A120.99780701754386313686438611-6438613
111ATN1120.99916036943745335737045892-7045894
112ABCC9120.999354838709683465022015986-22015988
113KRAS120.99649122807018257025380197-25380198
114DNM1L120.998190863862514221132866238-32866241
115PKP2120.9912490055688122251433049443-33049445, 33049626-33049643, 33049645
116LRRK2120.9981540084388214758440761499-40761511, 40761567
117MLL2120.961418081136396411661449424075, 49424145-49424146, 49424407, 49424542-49424551, 49424961, 49425400-49425403, 49425757, 49425764, 49425782-49425800, 49425836, 49425946, 49425998, 49426040-49426044, 49426146, 49426152-49426154, 49426165, 49426186-49426192, 49426216, 49426463, 49426470, 49426515-49426521, 49426587, 49426647-49426794, 49426852-49426854, 49426905-49426911, 49427047-49427063, 49427079-49427123, 49427196-49427197, 49427229, 49427236-49427243, 49427256-49427271, 49427278, 49427315-49427320, 49427323-49427326, 49427330, 49427534-49427538, 49427574-49427586, 49427589-49427592, 49427650-49427655, 49427679, 49427688, 49430947, 49430956, 49431280-49431308, 49431317, 49431494-49431518, 49431535-49431558, 49431590-49431611, 49431663, 49431701-49431703, 49431728-49431733, 49431786-49431811, 49431822-49431913, 49431986, 49432055-49432056, 49432313, 49432368, 49432372, 49432383-49432384, 49432538, 49432553, 49432571, 49432609, 49432617-49432627, 49432672, 49433245-49433253, 49433315-49433319, 49433326, 49434049-49434053, 49434068-49434069, 49434085-49434088
118DHH120.999160369437451119149488008
119TUBA1A120.934210526315793045649522303-49522320, 49522386, 49522411, 49522445, 49522457, 49522468, 49522572-49522578
120KRT81120.9670619235836650151852681437, 52682999-52683005, 52684039, 52684044-52684047, 52684956-52684963, 52685012, 52685176-52685203
121KRT86120.9705681040383343146152696884-52696918, 52697948-52697955
122KRT83120.996626180836715148252715033-52715037
123KRT6B120.9752212389380542169552843632-52843637, 52844243, 52844246, 52844265, 52845432-52845438, 52845528-52845534, 52845598-52845604, 52845680-52845683, 52845716, 52845798-52845804
124KRT6C120.9758112094395341169552862971-52862977, 52865295-52865300, 52865925, 52867094, 52867187-52867193, 52867257-52867263, 52867324, 52867339-52867342, 52867457-52867463
125KRT6A120.9911504424778815169552884735, 52886708-52886714, 52886908-52886914
126KRT2120.999479166666671192053045777
127GNS120.9885473176612419165965152894-65152901, 65153006-65153014, 65153018-65153019
128CEP290120.999865591397851744088522723
129TMPO120.9923261390887316208598909800, 98909883-98909894, 98909904, 98909909, 98909912
130SLC17A8120.9994350282485911770100774587
131UNG120.9861995753715513942109535579-109535586, 109535595-109535599
132TRPV4120.99617737003058102616110236545, 110238522, 110246180, 110252219-110252225
133ATP2A2120.9990412272291533129110719606, 110719610, 110719620
134ATXN2120.844495180111626133942112036588-112036602, 112036617-112036701, 112036709-112036827, 112036845-112036941, 112036956-112037157, 112037193-112037268, 112037277, 112037281-112037284, 112037290-112037303
135SDS120.992907801418447987113836599, 113836602-113836607
136TBX3120.9982078853046642232115109880, 115112323-115112325
137HNF1A120.98839662447257221896121432114-121432129, 121437377-121437382
138PUS1120.853582554517131881284132414275-132414308, 132414327-132414341, 132414452-132414501, 132414507-132414568, 132414602-132414608, 132425979-132425990, 132425994, 132426006-132426011, 132426363
139SACS130.9999272197962211374023949270
140B3GALTL130.9746158984635938149731774222-31774232, 31774247-31774267, 31774286-31774291
141BRCA2130.99766013454226241025732900379, 32903628, 32906669, 32906674, 32910961-32910966, 32911443-32911447, 32912108-32912114, 32912467, 32912757
142FREM2130.999579390115674951039261568-39261570, 39261623
143SLC25A15130.988962472406181090641381530-41381532, 41382658-41382664
144ZIC2130.903064415259541551599100634396-100634408, 100634543-100634549, 100634593-100634599, 100635008-100635010, 100637700-100637763, 100637826-100637859, 100637904-100637930
145PCCA130.9967992684042172187100741450-100741456
146COL4A1130.99740518962076135010110959314, 110959317, 110959329-110959333, 110959338-110959341, 110959344, 110959351
147F7130.333333333333338901335113760156-113760171, 113760183-113760219, 113765004-113765007, 113765021-113765075, 113765078, 113765095-113765164, 113768066-113768073, 113768161-113768175, 113768218-113768232, 113768236-113768239, 113768250-113768251, 113768253, 113768258-113768270, 113769974, 113769981-113770010, 113770022-113770043, 113770065-113770072, 113770098, 113770106, 113771101-113771110, 113771119-113771130, 113771156-113771189, 113771806-113771873, 113772727-113772749, 113772756-113772768, 113772780-113772808, 113772814-113772826, 113772832-113772865, 113772871, 113772889-113773047, 113773065-113773118, 113773134-113773138, 113773165-113773209, 113773233-113773282, 113773287-113773322
148F10130.90797546012271351467113777170-113777230, 113798225-113798229, 113798357-113798367, 113801693-113801702, 113803271-113803272, 113803287-113803295, 113803349-113803350, 113803381-113803385, 113803516-113803522, 113803563-113803575, 113803818-113803827
149GRK1130.898936170212771711692114321716-114321737, 114321813-114321830, 114321843-114321872, 114321911-114321928, 114322118-114322153, 114322168, 114322340-114322342, 114322378, 114325855-114325884, 114325941-114325951, 114426083
150TEP1140.999238964992396788420851767-20851772
151PABPN1140.948968512486434792123790751-23790757, 23790880-23790882, 23790911-23790912, 23790927, 23790943-23790959, 23790987, 23790990-23790993, 23791001, 23791019-23791029
152NRL140.983193277310921271424550548-24550555, 24550599, 24550613-24550615
153TGM1140.996332518337419245424724299-24724304, 24724399-24724401
154FOXG1140.84965986394558221147029236653-29236662, 29236677, 29236689-29236724, 29236750-29236757, 29236761-29236766, 29236776, 29236782-29236854, 29236867, 29236872-29236956
155NKX2-1140.89635157545605125120636986577-36986594, 36986621-36986622, 36986660-36986661, 36986664, 36986696-36986702, 36986800-36986852, 36986872-36986912, 36988366
156MGAT2140.997023809523814134450088147-50088150
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323SCN1B190.950433705080554080735521725-35521764
324MAG190.93141945773525129188135786352-35786355, 35790491-35790504, 35790515-35790519, 35790531-35790533, 35790553-35790554, 35790558-35790571, 35790591-35790601, 35790658-35790662, 35790691-35790693, 35790735-35790753, 35791079-35791085, 35791089-35791091, 35791127-35791151, 35791165, 35791172, 35791177-35791182, 35791185-35791188, 35791190, 35800977
325TYROBP190.946902654867261833936398369-36398370, 36398644-36398649, 36399082-36399091
326SDHAF1190.916666666666672934836486189-36486201, 36486303-36486317, 36486407
327WDR62190.9971566054243213457236595813-36595825
328RYR1190.968512270953234761511738931443-38931449, 38986865-38986873, 38987500, 38987528-38987539, 39003055-39003064, 39003115, 39055611-39055612, 39055692-39055815, 39055822-39055852, 39055867, 39055874-39055944, 39055954, 39055965-39056084, 39056136, 39056162-39056165, 39056215-39056241, 39056290-39056328, 39056380-39056387, 39056390-39056391, 39056396-39056398, 39075599, 39075638
329ACTN4190.95211988304094131273639138492-39138516, 39214357, 39214797-39214803, 39214861-39214871, 39214877-39214881, 39214948, 39215131, 39215155, 39215158-39215161, 39216461, 39218648-39218651, 39219638-39219645, 39219731, 39219984-39220023, 39220037-39220057
330DLL3190.9676898222940260185739993560, 39993562-39993565, 39993568-39993569, 39993604-39993609, 39993637, 39994830-39994845, 39997718-39997736, 39997810-39997812, 39997853-39997860
331PRX190.96967624259006133438640909618-40909621, 40909631-40909695, 40909706-40909769
332TGFB1190.88064791133845140117341837061-41837063, 41837066, 41837076, 41837080, 41837095, 41838163-41838170, 41847858, 41850692, 41850709, 41850714-41850723, 41854241-41854260, 41854290-41854291, 41854318-41854331, 41854347-41854360, 41858626, 41858696-41858699, 41858711, 41858843-41858851, 41858867-41858869, 41858896-41858929, 41858932, 41858941-41858949
333ATP1A3190.9828711256117563367842470749-42470757, 42470865, 42470922-42470924, 42470930, 42471003-42471022, 42471050, 42471356-42471379, 42473595, 42480631, 42498227-42498228
334ETHE1190.983006535947711376544012096-44012107, 44012207
335BCAM190.9692633810280958188745312387, 45312392-45312396, 45312402-45312452, 45324043
336APOE190.99895178197065195445412065
337BLOC1S3190.983579638752051060945682994-45682996, 45683033-45683039
338ERCC2190.9767849321068853228345867017-45867023, 45867097, 45867101-45867116, 45867149, 45867304-45867305, 45867310, 45867369-45867375, 45867581-45867589, 45867686-45867693, 45873476
339SIX5190.7027027027027660222046268902, 46268947, 46268958, 46268968-46268969, 46268974-46268991, 46269168-46269179, 46269183-46269188, 46269192, 46269303-46269313, 46269646-46269687, 46269700-46269702, 46269741-46269745, 46269768-46269793, 46269870-46269875, 46269948-46269958, 46270008-46270052, 46270110, 46270133-46270151, 46270158-46270206, 46270214-46270236, 46270308-46270315, 46270369-46270395, 46270412, 46271304-46271341, 46271465-46271467, 46271475-46271476, 46271489, 46271537, 46271540, 46271568, 46271570-46271574, 46271587-46271590, 46271596-46271619, 46271693-46271762, 46271785-46271790, 46271793-46271795, 46271839-46271868, 46271898-46271912, 46271918-46271999, 46272021-46272050, 46272060-46272062, 46272065, 46272074-46272083, 46272091-46272101
340DMPK190.8026455026455373189046273746-46273758, 46273831-46273842, 46273878-46273898, 46274239-46274269, 46274278-46274283, 46274289-46274318, 46275148-46275150, 46275155, 46280597-46280599, 46280925-46280933, 46281059, 46281066-46281087, 46281478, 46281756-46281797, 46281856-46281862, 46281872-46281874, 46282536-46282540, 46282585-46282609, 46282701-46282704, 46282761-46282764, 46282768, 46285451-46285498, 46285520-46285563, 46285574-46285610
341FKRP190.70833333333333434148847258788, 47259041-47259058, 47259068-47259070, 47259081-47259118, 47259126-47259142, 47259154, 47259218-47259245, 47259253-47259317, 47259346-47259387, 47259408-47259425, 47259438-47259458, 47259478-47259544, 47259556, 47259595-47259600, 47259612-47259628, 47259638, 47259644, 47259649-47259650, 47259655-47259663, 47259672, 47259674, 47259688-47259695, 47259740-47259749, 47259954, 47259967-47259977, 47260035-47260045, 47260134-47260168
342DBP190.5828220858895740897849134106-49134135, 49134189-49134190, 49138837-49138860, 49138868-49139070, 49139079-49139125, 49139138-49139216, 49140186-49140197, 49140205-49140215
343BCAT2190.9889737065309613117949303282-49303294
344FTL190.99810606060606152849469027
345GYS1190.9715447154471563221449494610, 49494702-49494721, 49496252-49496257, 49496262, 49496312-49496335, 49496359-49496369
346MED25190.87433155080214282224450321602-50321632, 50321648-50321680, 50321828-50321853, 50322435-50322445, 50333139-50333149, 50333445-50333449, 50333780, 50334078, 50334110-50334116, 50334132-50334141, 50334144, 50335399-50335414, 50338420-50338434, 50338791-50338793, 50338985, 50339030-50339032, 50339082, 50339090, 50339141-50339148, 50339151-50339157, 50339177-50339178, 50339181-50339197, 50339483-50339512, 50339547, 50339551-50339568, 50339579-50339580, 50339586-50339589, 50339594-50339599, 50339614, 50339617, 50340104-50340111
347PNKP190.9744572158365340156650364617, 50365663-50365668, 50365844-50365845, 50368399, 50369691-50369692, 50370354-50370381
348MYH14190.9851088201603791611150752985-50752991, 50753772-50753779, 50762404-50762410, 50762416-50762418, 50764776-50764780, 50764793-50764826, 50766593-50766597, 50766626, 50766629, 50766658-50766660, 50770208-50770219, 50789923, 50795570, 50795573-50795574, 50795581
349KCNC3190.77792436235708505227450823513-50823517, 50823538-50823541, 50823566-50823586, 50823590, 50826265-50826266, 50826314-50826315, 50826416, 50826422-50826437, 50826465-50826475, 50826677-50826682, 50826685-50826694, 50831532-50831535, 50831541, 50831552, 50831710-50831764, 50831781-50831787, 50831872-50831877, 50831883-50831898, 50831901-50831902, 50831905-50831907, 50831924-50832015, 50832025-50832059, 50832085-50832104, 50832110-50832123, 50832135-50832139, 50832150-50832163, 50832189-50832339
350NLRP12190.9814814814814859318654312870-54312886, 54312916-54312923, 54313585, 54313589-54313605, 54313613-54313615, 54313661-54313669, 54313679-54313681, 54314267
351PRKCG190.9536771728748897209454392993-54393003, 54393140-54393159, 54393260, 54401795-54401812, 54409672-54409679, 54409971-54409973, 54410063-54410098
352PRPF31190.39333333333333910150054621689-54621709, 54621827-54621835, 54625254-54625257, 54625292, 54625876-54625899, 54625944-54625959, 54626916-54626923, 54626926-54626927, 54627128-54627211, 54627261, 54627276, 54627294-54627297, 54627878-54627909, 54627921-54627935, 54627949-54627951, 54627960-54627981, 54627984-54627986, 54628007-54628027, 54629905-54629992, 54631448-54631575, 54631680-54631748, 54632432-54632560, 54632647-54632745, 54634738-54634863
353TSEN34190.9989281886388193354695376
354TNNT1190.7262357414448721678955644287, 55644299, 55644306-55644328, 55645255-55645295, 55645447-55645493, 55649417-55649434, 55652265-55652283, 55652288-55652319, 55652588, 55652592-55652593, 55652596-55652602, 55652630-55652638, 55652669-55652670, 55657822-55657834
355TNNI3190.981937602627261160955665485, 55666176-55666182, 55667673, 55667677, 55667690
356TPO20.9057815845824426428021480868, 1480871, 1480915, 1480988, 1481017, 1481032, 1481073, 1481094, 1481105, 1481167, 1481238, 1481242-1481243, 1481348, 1481357, 1481361, 1488387-1488393, 1497602-1497608, 1507802-1507807, 1520655-1520754, 1544366-1544388, 1544403-1544495, 1546193-1546196, 1546239-1546246
357RPS720.9897435897435965853623239-3623244
358KLF1120.9662118258609552153910183844-10183885, 10188539, 10192626-10192634
359MYCN20.993548387096779139516082460-16082465, 16082664-16082666
360APOB20.99824715162138241369221266752-21266754, 21266775-21266795
361POMC20.965174129353232880425384453-25384480
362HADHA20.9882198952879627229226414415-26414441
363OTOF20.551718385051722687599426683002-26683010, 26683578-26683588, 26684598-26684604, 26684739, 26684976, 26684998-26685001, 26685013-26685047, 26686868-26686871, 26686900, 26686948-26686953, 26687750-26687752, 26687782-26687783, 26688541, 26688553, 26688643-26688657, 26689629, 26689671, 26690002-26690004, 26690010, 26690021-26690023, 26690101, 26690259-26690265, 26691283-26691289, 26693461, 26693464-26693472, 26693477, 26693481-26693483, 26693514-26693529, 26693554-26693556, 26693585-26693588, 26693989-26694018, 26695387-26695517, 26696000-26696162, 26696274-26696435, 26696859-26696978, 26697381-26697542, 26698227-26698361, 26698782-26698906, 26698996-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702236, 26702246-26702252, 26702341-26702404, 26702418-26702419, 26702442-26702521, 26703071-26703165, 26703654-26703700, 26703733-26703877, 26705274-26705291, 26705309-26705345, 26705353-26705384, 26705388, 26705407-26705460, 26706335-26706366, 26706378-26706385, 26706445, 26706494-26706500, 26707353-26707359, 26707424-26707469, 26707490-26707501, 26712105-26712132, 26712163, 26712588-26712603
364ALK20.999794365617931486330143499
365SPAST20.9940572663425211185132289003, 32289015, 32289218-32289226
366CYP1B120.83210784313725274163238301582-38301583, 38301626-38301627, 38301630, 38301825-38301834, 38301874-38301892, 38301922-38301966, 38302007, 38302015, 38302019-38302047, 38302056-38302064, 38302104-38302127, 38302174-38302180, 38302194-38302225, 38302301-38302317, 38302354-38302372, 38302381-38302427, 38302491-38302499
367SOS120.999750124937531400239347549
368ABCG520.998977505112472195644058957, 44058970
369ABCG820.9322453016815137202244099141-44099157, 44099225-44099256, 44099272-44099277, 44099362-44099398, 44102362-44102387, 44102475-44102493
370EPCAM20.988359788359791194547596684-47596685, 47596695-47596700, 47607002-47607004
371MSH220.9803921568627555280547630355-47630377, 47630400-47630411, 47630419, 47630452-47630460, 47639621, 47639643-47639651
372MSH620.97330394317904109408348010409, 48010468-48010484, 48010537-48010578, 48010584-48010632
373DYSF20.9869496855345983636071797785, 71797803, 71797806-71797825, 71801416-71801422, 71801425, 71825787-71825808, 71825835, 71825872, 71829906-71829918, 71838681, 71839793-71839807
374SPR20.927480916030535778673114643-73114649, 73114708-73114729, 73114783-73114810
375ALMS120.99896033269354131250473613032-73613034, 73613188, 73679727, 73827996-73828002, 73828342
376MOGS20.973349244232367251474689257, 74689275, 74689279, 74689828, 74692187-74692199, 74692202, 74692245-74692261, 74692316, 74692334-74692364
377GGCX20.996047430830049227785788516-85788524
378REEP120.9983498349835160686459810
379EIF2AK320.9925395404356925335188926730-88926732, 88926748-88926752, 88926768-88926784
380TMEM12720.920502092050215771796930955-96930961, 96930966, 96930969, 96930975, 96931049-96931095
381ZAP7020.9865591397849525186098340562-98340574, 98340614-98340616, 98340764-98340770, 98340868-98340869
382RANBP220.979224806201552019675109345588-109345601, 109347816-109347859, 109352606-109352638, 109357110-109357116, 109365376-109365394, 109368049, 109368104-109368119, 109370398, 109374948-109374955, 109378557, 109378649-109378651, 109383051-109383090, 109383268-109383274, 109384628-109384634
383MERTK20.99533333333333143000112656323-112656335, 112656338
384GLI220.945809703843732584761121555014-121555027, 121728142-121728182, 121745991, 121746032-121746033, 121746133-121746177, 121746205-121746211, 121746222-121746225, 121746245, 121746247-121746256, 121746353-121746392, 121746433-121746439, 121746529-121746570, 121746586-121746612, 121746810, 121747146, 121747154-121747163, 121747340, 121747780-121747783
385BIN120.98597081930415251782127808055, 127808444, 127811581-127811584, 127864436-127864454
386PROC20.93434343434343911386128180493-128180504, 128180657-128180681, 128180700-128180747, 128180948-128180953
387CFC120.8913690476190573672131279392, 131280363-131280397, 131280410-131280411, 131280436-131280462, 131280798, 131280805-131280808, 131280843, 131285347, 131285377
388NEB20.99969960949234619974152432838-152432843
389SCN2A20.9996676636756426018166201221-166201222
390GALNT320.9973711882229251902166621486, 166621496-166621498, 166621501
391SCN1A20.9996664999166225997166895933-166895934
392ITGA620.9990842490842533276173292517-173292519
393HOXD1320.98062015503876201032176957674-176957679, 176957715-176957719, 176957741-176957745, 176957968-176957971
394PRKRA20.992569002123147942179315721-179315727
395HSPD120.99070847851336161722198351826-198351841
396WNT10A20.98086124401914241254219745748-219745765, 219757863-219757868
397DES20.97098372257608411413220283277, 220283286-220283294, 220283623-220283645, 220283701-220283708
398OBSL120.920224916534884545691220416260-220416263, 220416266, 220416283, 220416871-220416875, 220416897-220416909, 220417293, 220417307-220417320, 220417405-220417419, 220417597-220417618, 220417643-220417663, 220435056-220435057, 220435285, 220435394-220435406, 220435493-220435536, 220435575-220435644, 220435661-220435761, 220435768-220435811, 220435838-220435845, 220435861-220435892, 220435913-220435954
399COL4A320.99162178336326425013228029481-228029522
400CHRND20.98005148005148311554233390926-233390946, 233396280-233396286, 233396290, 233396337, 233398786
401CHRNG20.99871299871321554233405384, 233409105
402AGXT20.94741306191688621179241808287-241808290, 241808314, 241808342-241808349, 241808406-241808420, 241808423, 241808615-241808626, 241808630, 241808685, 241808691-241808699, 241810860-241810866, 241816967-241816969
403D2HGDH20.860153256704982191566242674657-242674659, 242674743-242674767, 242674780-242674792, 242674796, 242674803, 242689578-242689607, 242689651-242689653, 242689679-242689701, 242695337-242695345, 242695416-242695429, 242707180-242707188, 242707199, 242707203, 242707259-242707281, 242707299-242707324, 242707339-242707366, 242707376-242707384
404C20orf54200.9985815602836921410746232-746233
405AVP200.83030303030303844953063325-3063342, 3063346, 3063362-3063363, 3063369, 3063391, 3063394, 3063403-3063409, 3063629-3063650, 3063672-3063692, 3063739-3063748
406PANK2200.988324576765912017133870096, 3870102-3870103, 3870230-3870239, 3870250-3870251, 3870266-3870268, 3870271-3870272
407JAG1200.984686901832156365710653349, 10653428-10653437, 10653500, 10653526, 10653560-10653580, 10653616-10653628, 10654109-10654110, 10654164-10654170
408THBD200.994791666666679172823029509-23029512, 23029522, 23029592-23029595
409SNTA1200.85902503293808214151832000184-32000188, 32000219-32000232, 32000389, 32000423-32000433, 32000485-32000491, 32000531-32000533, 32000539-32000542, 32000572-32000574, 32031118-32031127, 32031149-32031153, 32031162-32031172, 32031184, 32031194, 32031200, 32031204, 32031214-32031215, 32031224-32031225, 32031228-32031229, 32031253, 32031272-32031275, 32031288-32031290, 32031305-32031426
410GDF5200.994687915006648150634025153-34025160
411HNF4A200.999298245614041142543052767
412ADA200.9963369963374109243257759, 43257765, 43257771, 43257774
413CTSA200.9926519706078811149744520208, 44520238-44520240, 44520251-44520253, 44520256-44520259
414SALL4200.997153700189759316250407355, 50408340-50408347
415GNAS200.93902439024394573857415179-57415185, 57415332-57415357, 57415541-57415547, 57415656-57415660
416GNAS200.92421323057161236311457429063-57429068, 57429074-57429090, 57429095-57429101, 57429260-57429280, 57429350-57429357, 57429453-57429479, 57429502, 57429511-57429518, 57429572, 57429593-57429596, 57429600-57429601, 57429604, 57429608, 57429612-57429615, 57429621, 57429652, 57429655-57429661, 57429679-57429700, 57429738-57429743, 57429746-57429773, 57429859, 57429983-57429986, 57430014-57430023, 57430043-57430063, 57430251-57430266, 57430378-57430388
417COL9A3200.80243309002433406205561448417-61448494, 61448919-61448987, 61449894-61449905, 61450587, 61450590-61450598, 61450625-61450629, 61451285-61451288, 61452533-61452536, 61452862, 61453109-61453145, 61453154-61453156, 61453160-61453162, 61453489-61453516, 61453943, 61455816-61455823, 61455853, 61456320-61456373, 61457592-61457609, 61458146, 61458149-61458172, 61460282, 61460290, 61461712-61461745, 61461901, 61461917-61461924
418CHRNA4200.16560509554141572188461978090-61978110, 61978132-61978215, 61981011-61981012, 61981060, 61981072-61981185, 61981191-61981502, 61981532-61981856, 61981891-61981893, 61981917-61981990, 61981998-61982055, 61982066-61982081, 61982085, 61982088-61982096, 61982109-61982188, 61982201-61982220, 61982237-61982256, 61982286-61982297, 61982306-61982310, 61982320, 61982343, 61982348, 61982351-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
419KCNQ2200.300878197785411831261962037997-62038331, 62038343, 62038346-62038360, 62038381, 62038385-62038415, 62038421-62038447, 62038458-62038499, 62038506-62038728, 62039766-62039777, 62039791-62039810, 62039826-62039871, 62044826-62044875, 62044888-62044899, 62045452-62045453, 62045473-62045474, 62046259-62046277, 62046303-62046348, 62046382-62046397, 62046409-62046434, 62059730, 62059748-62059753, 62059765-62059788, 62062693, 62065210, 62069990-62070005, 62070072, 62070951-62070977, 62070983-62070995, 62070999-62071004, 62071018-62071061, 62073759-62073884, 62076012-62076170, 62076591-62076717, 62078100-62078110, 62078120-62078126, 62078152-62078190, 62103521-62103816
420SOX18200.119480519480521017115562679519-62679553, 62679570-62679578, 62679609-62679629, 62679645-62679670, 62679698-62679775, 62679795-62679813, 62679830-62680042, 62680051-62680275, 62680283-62680315, 62680512-62680869
421APP210.9891915261565125231327542898-27542921, 27542935
422IFNGR2210.9280078895463573101434775850-34775922
423RCAN1210.951251646903823775935987167-35987186, 35987190-35987194, 35987252-35987262, 35987281
424RUNX1210.9993069993071144336259387
425CLDN14210.948611111111113772037833307, 37833320, 37833563-37833589, 37833683, 37833794, 37833926-37833927, 37833933, 37833955, 37833959-37833960
426TMPRSS3210.9904761904761913136543795867-43795879
427CBS210.9800724637681233165644478966-44478980, 44479044-44479046, 44479052, 44479058-44479062, 44483171, 44483176-44483177, 44485599-44485600, 44485776-44485779
428AIRE210.374236874236871025163845705890-45705953, 45705961-45705979, 45705988-45706018, 45706449-45706450, 45706483, 45706486-45706494, 45706504, 45706515-45706519, 45706525-45706529, 45706532-45706539, 45706551-45706554, 45706567, 45706574-45706575, 45706601, 45706868-45706883, 45706906, 45706912-45706982, 45707000, 45707010-45707011, 45707400-45707402, 45707435-45707460, 45708273-45708282, 45708327-45708341, 45709545-45709592, 45709605-45709667, 45709871-45709903, 45709933, 45709942, 45710978-45710979, 45711006-45711054, 45711068, 45711086, 45711091, 45712196-45712215, 45712243-45712284, 45712876-45712887, 45712903-45712910, 45712936-45712953, 45712977-45713058, 45713673-45713793, 45714284-45714386, 45716266-45716328, 45717542-45717599
429ITGB2210.93419913419913152231046306763, 46308612-46308645, 46308665-46308680, 46308716-46308753, 46308781-46308803, 46308809, 46309235, 46309333, 46309972-46309984, 46310044-46310067
430COL18A1210.755935422602091285526546875548, 46875774-46875782, 46875859, 46875936, 46876004, 46876151-46876175, 46876191-46876194, 46876220-46876221, 46876226, 46876323, 46876347, 46876358, 46876472-46876475, 46876514-46876532, 46876552, 46876561-46876570, 46876617-46876620, 46876623-46876626, 46876629-46876639, 46876642-46876643, 46876647-46876658, 46876686-46876719, 46876747-46876748, 46876750, 46876770-46876773, 46888204-46888239, 46888248, 46888343-46888344, 46888351-46888354, 46888503-46888506, 46888636, 46896389, 46897717-46897722, 46900674, 46900701, 46900709, 46900712-46900714, 46906775, 46906786-46906787, 46906791, 46906794, 46906838-46906843, 46906858, 46906868-46906875, 46906903, 46907397, 46907401, 46907404, 46907407-46907410, 46907415, 46908332, 46908337, 46909400-46909407, 46910189-46910260, 46910750-46910783, 46911139-46911192, 46911202, 46911206, 46911212, 46912449-46912470, 46912601-46912627, 46913086-46913129, 46913432-46913440, 46913453-46913489, 46914459-46914485, 46914776-46914803, 46914815-46914820, 46915276-46915277, 46915281, 46915301, 46915305-46915307, 46916416-46916420, 46916445-46916482, 46916964, 46916985, 46917003-46917006, 46917516, 46917571, 46923925-46923966, 46924335, 46924341, 46924346, 46924354-46924358, 46924372-46924404, 46924417-46924419, 46924426-46924441, 46924446-46924447, 46924457, 46925050, 46925062-46925068, 46925106-46925192, 46925296-46925331, 46925752-46925765, 46925793-46925823, 46925855, 46925858-46925860, 46925876, 46927475-46927476, 46929307-46929334, 46929359-46929386, 46929444, 46929458-46929475, 46930005-46930030, 46930067, 46931025-46931048, 46931063-46931112, 46932102-46932121, 46932144-46932186, 46932199-46932241, 46932274-46932276, 46932278-46932312
431COL6A1210.71558147068351878308747401765-47401861, 47402565-47402677, 47404183-47404191, 47404222-47404324, 47404335-47404383, 47406440-47406452, 47406468-47406536, 47406562, 47406574, 47406593, 47406596-47406598, 47406858-47406986, 47407422-47407433, 47407524-47407568, 47408998-47409006, 47409670-47409672, 47409675, 47409688-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410701, 47410947, 47412099, 47412102-47412106, 47414089, 47414094, 47414097-47414099, 47414129-47414143, 47417338-47417339, 47417345, 47417348, 47417649-47417655, 47418054-47418085, 47418853-47418862, 47419067-47419070, 47419571-47419587, 47419604-47419606, 47423470-47423475, 47423481-47423484, 47423495-47423508
432COL6A2210.291176470588242169306047531391-47531423, 47531431-47531439, 47531447-47531505, 47531893-47531936, 47531951-47532016, 47532032-47532033, 47532037-47532038, 47532040-47532066, 47532118, 47532129, 47532137-47532145, 47532154-47532185, 47532192-47532200, 47532211, 47532246-47532260, 47532279-47532359, 47532377-47532379, 47532394, 47532405-47532422, 47532440, 47532449-47532482, 47532487, 47532718-47532738, 47533941, 47533947-47533950, 47535809, 47535821-47535823, 47535834, 47535923-47535945, 47535958-47535967, 47536291-47536297, 47536575-47536577, 47536586-47536589, 47536684-47536728, 47537314-47537367, 47537788-47537850, 47538528-47538586, 47538948-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410, 47542414-47542418, 47542422-47542424, 47542439-47542440, 47542445, 47542818-47542851, 47544565-47544580, 47544799-47544834, 47545180-47545191, 47545379-47545388, 47545401-47545430, 47545507, 47545520-47545531, 47545699-47545700, 47545708-47545733, 47545743-47545801, 47545825, 47545869-47545887, 47545903, 47545906-47546005, 47546031-47546107, 47546124-47546151, 47546454-47546455, 47551868-47551932, 47551947-47552093, 47552105-47552339, 47552352-47552401, 47552410-47552466
433COL6A2210.05847953216374332234247552183-47552339, 47552352-47552401, 47552410-47552524
434FTCD210.0461254612546131551162647556901-47556928, 47556948-47556987, 47557153-47557190, 47557205-47557248, 47558422-47558560, 47558794, 47558810, 47558830-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570379, 47570388-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
435PCNT210.99400659274798601001147744161-47744187, 47818029, 47836741-47836746, 47841900-47841910, 47845808, 47845811, 47848366-47848369, 47848373, 47848376, 47848385-47848390, 47848490
436PRODH220.8291735995563308180318900750, 18904414, 18904419, 18905879-18905902, 18905975-18905981, 18908875, 18908916-18908936, 18910412-18910414, 18910647, 18912579-18912588, 18912593, 18918577, 18923528-18923638, 18923649-18923684, 18923699-18923751, 18923765-18923800
437GP1BB22062162119711093-19711102, 19711377-19711987
438TBX1220.6619623655914503148819747177-19747178, 19748428-19748599, 19748616-19748624, 19748632-19748705, 19753303, 19753311-19753316, 19753319, 19753441-19753474, 19753488-19753525, 19753912-19753917, 19753920-19753926, 19753937-19753941, 19753944-19753963, 19753968-19753970, 19753991-19754011, 19754024-19754049, 19754101-19754114, 19754164, 19754167-19754181, 19754206-19754212, 19754287-19754300, 19754307-19754323, 19754326-19754330, 19754340, 19754343-19754346
439SMARCB1220.9671848013816938115824129357-24129379, 24129435, 24145526-24145532, 24175822-24175828
440CHEK2220.9738784781374246176129083927-29083965, 29085165-29085171
441NF2220.999440715883671178830000065
442TCN2220.995327102803746128431003319-31003321, 31003324-31003326
443TIMP3220.963836477987422363633198034-33198056
444MYH9220.9983001869794310588336697074-36697075, 36697580-36697587
445TRIOBP220.95350803043111330709838111892, 38119883-38119905, 38120030-38120068, 38120935-38120968, 38122121-38122134, 38122209-38122211, 38122295-38122310, 38122501-38122510, 38129346-38129348, 38129408, 38129412-38129419, 38130459, 38130472, 38130537-38130541, 38130546-38130551, 38130589-38130597, 38130658-38130695, 38130764-38130765, 38130871-38130897, 38130919, 38130936-38130954, 38131012, 38131015-38131021, 38131242, 38131269, 38131372-38131375, 38131383-38131399, 38136911-38136916, 38147809-38147819, 38153935-38153938, 38165167-38165183
446SOX10220.9778729478943631140138379545-38379569, 38379637-38379638, 38379692, 38379696-38379698
447PLA2G6220.4130879345603328748938508274-38508285, 38508292-38508297, 38508511-38508550, 38508558-38508560, 38508570-38508572, 38509522-38509615, 38509667-38509705, 38509727-38509731, 38509745, 38509756-38509771, 38509798-38509825, 38509830-38509869
448PLA2G6220.8124741842214454242138508173-38508243, 38508260-38508285, 38508292-38508297, 38508511-38508550, 38508558-38508560, 38508570-38508572, 38509522-38509615, 38511534-38511555, 38511578-38511584, 38511593-38511655, 38511664-38511688, 38512082-38512098, 38512126, 38512208-38512218, 38516843-38516844, 38516888-38516889, 38519130, 38519173-38519183, 38519227-38519249, 38519263-38519265, 38524387-38524409
449TNFRSF13C220.2738738738738740355542321410-42321440, 42321444, 42321478-42321487, 42322111-42322335, 42322642-42322777
450CYB5R3220.973509933774832490643015787-43015789, 43045301-43045321
451ATXN10220.999299719887961142846068037
452TRMU220.78909952606635267126646731677-46731678, 46731689-46731693, 46731710-46731731, 46746216-46746243, 46746278-46746297, 46746326, 46748165-46748168, 46749759, 46751341-46751391, 46751410-46751436, 46751479-46751485, 46751897-46751921, 46751935-46751945, 46752739-46752753, 46752760-46752793, 46752827-46752828, 46752857, 46752870-46752874, 46752898-46752903
453ALG12220.9434219495569283146750298144, 50303687-50303689, 50303708-50303711, 50303722-50303736, 50304086, 50304091, 50304116, 50304198-50304204, 50307137, 50307278, 50307297, 50307308, 50307361-50307406
454MLC1220.88447971781305131113450502469, 50502478-50502498, 50502509-50502553, 50502563-50502583, 50502612-50502622, 50502625-50502627, 50506949-50506960, 50512719-50512727, 50515902-50515909
455SCO2220.987515605493131080150962654-50962657, 50962810-50962815
456TYMP220.63354037267081531144950964199-50964347, 50964430-50964467, 50964481-50964570, 50964675-50964678, 50964703-50964739, 50964792-50964795, 50964811-50964833, 50964853-50964905, 50965036-50965050, 50965070, 50965082, 50965089-50965090, 50965097, 50965117-50965137, 50965162-50965167, 50965702-50965705, 50966131-50966138, 50967616-50967618, 50967925-50967944, 50968035-50968046, 50968098-50968101, 50968104-50968138
457ARSA220.9796587926509231152451064372-51064388, 51065397-51065405, 51066082-51066086
458SHANK3220.579519450800922205524451113070-51113132, 51113476-51113479, 51113485-51113584, 51113593, 51113597, 51113609-51113615, 51113627-51113679, 51115050-51115064, 51115105-51115121, 51117013-51117045, 51117068-51117073, 51117087-51117121, 51117202-51117220, 51117226-51117251, 51117260-51117279, 51117286, 51117301, 51117312-51117348, 51117447-51117614, 51117740-51117750, 51117766-51117856, 51121768-51121845, 51123013-51123079, 51133209, 51133223-51133257, 51133312-51133314, 51133317, 51133321, 51133325, 51133330, 51133353-51133354, 51133366-51133370, 51133374, 51133381-51133387, 51133425-51133462, 51133465, 51135671-51135718, 51135951-51136143, 51137148-51137155, 51143218-51143221, 51143246-51143252, 51143255-51143262, 51143273, 51144530-51144572, 51158684-51158744, 51158753-51158790, 51158829-51158847, 51158850-51158856, 51158871-51158969, 51159008-51159038, 51159064-51159112, 51159172-51159187, 51159234-51159285, 51159307-51159334, 51159372-51159387, 51159397-51159423, 51159444, 51159513-51159514, 51159550-51159560, 51159602-51159634, 51159675-51159703, 51159836-51159840, 51159882-51159892, 51159924-51159926, 51159937-51159947, 51159968-51160015, 51160216-51160220, 51160533, 51160536, 51169180-51169201, 51169221-51169222, 51169226-51169232, 51169235-51169255, 51169259-51169263, 51169288-51169335, 51169370, 51169421-51169430, 51169456, 51169460-51169490, 51169494-51169504, 51169509, 51169519-51169589, 51169606-51169669, 51169679-51169689, 51169692, 51169700-51169704, 51169715-51169740
459FANCD230.98437569441610088264-10088311, 10088340-10088346, 10107165-10107171, 10114941-10114947
460VHL30.903426791277266264210183542-10183545, 10183618, 10183656-10183659, 10183715-10183752, 10183820, 10183835-10183848
461TMEM4330.983374896093120120314172388-14172389, 14177386-14177403
462CRTAP30.9262023217247189120633155582-33155585, 33155595-33155608, 33155636-33155642, 33155721-33155725, 33155779-33155780, 33155834-33155843, 33155853, 33155875-33155920
463TMIE30.6710239651416115145946742860, 46742870-46742873, 46742880, 46742890-46742902, 46742905, 46742910-46742913, 46742928-46742959, 46742977-46743070, 46747332
464TMIE30.7876857749469210047146742978-46743070, 46747332, 46751074-46751079
465TREX130.9900900900900911111048508237, 48508242, 48508245-48508246, 48508921-48508927
466COL7A130.9719298245614248883548612952-48612956, 48613305-48613307, 48613713-48613720, 48616370, 48616639-48616645, 48616832, 48616836-48616837, 48617089-48617101, 48618578-48618579, 48619356-48619370, 48620063-48620086, 48623000, 48623823, 48624102-48624114, 48624473, 48624505, 48624749, 48624862-48624866, 48624960-48624961, 48624968-48624969, 48625242-48625250, 48625264, 48625270, 48625297-48625335, 48626075-48626100, 48626113, 48626344-48626351, 48626402, 48626780, 48626797-48626814, 48627032-48627060, 48627693, 48629149, 48629805-48629808
467SLC25A2030.923841059602656990648899987, 48899990-48900006, 48936124-48936154, 48936178-48936197
468LAMB230.9825829164350694539749158685-49158727, 49160270-49160291, 49162013, 49162548, 49162572, 49162581, 49162716-49162718, 49162758, 49162896-49162909, 49167047, 49167837-49167842
469AMT30.994224422442247121249459546-49459552
470GNAT130.9183285849952586105350230569, 50230794, 50230798-50230800, 50230830, 50231006, 50231009, 50231080, 50231095-50231096, 50231200-50231201, 50231232, 50231245, 50231251-50231253, 50231272-50231284, 50231547-50231548, 50231562-50231565, 50231569, 50231572-50231577, 50231603-50231615, 50231644, 50231984, 50232026, 50232031-50232035, 50232250-50232270
471HYAL130.9816513761467924130850338154, 50338430-50338436, 50339562-50339567, 50339616-50339618, 50339706-50339711, 50339812
472TNNC130.9917695473251448652485424, 52486208, 52486212, 52486229
473RFT130.999384993849941162653156401
474TKT30.998931623931622187253289876-53289877
475FLNB30.999359713151495780957994375-57994379
476ATXN730.89464411557435299283863898275-63898455, 63898470-63898587
477PROK230.958974358974361639071834143-71834158
478PROS130.999507631708521203193595910
479ARL13B30.9891219891219914128793761993-93762006
480ACAD930.97588424437299451866128622905-128622906, 128622909-128622912, 128622915-128622918, 128623273-128623301, 128623313, 128623316, 128631447-128631450
481GP930.994382022471913534128780856, 128780859, 128780862
482RHO30.9990448901623711047129251599
483NPHP330.98672677185074533993132438549-132438557, 132438636-132438658, 132441003-132441007, 132441025, 132441028-132441033, 132441077-132441079, 132441109-132441111, 132441123, 132441136-132441137
484FOXL230.94694960212202601131138664659-138664668, 138664801-138664805, 138664848-138664859, 138664869-138664874, 138664876-138664881, 138664890-138664893, 138664896-138664899, 138665098-138665101, 138665119-138665124, 138665129, 138665132, 138665135
485ALG330.920273348519361051317183961759, 183966533-183966536, 183966587-183966601, 183966628-183966643, 183966659-183966727
486CLCN230.9992584352984822697184070571, 184070920
487CPN230.95787545787546691638194061906, 194062128, 194062143, 194062192-194062194, 194062236-194062267, 194062304-194062333, 194062714
488PDE6B40.800389863547765122565619491-619561, 619586-619616, 619628, 619662, 619677-619679, 619685, 619689, 619721-619722, 619725-619726, 619779-619791, 647641-647689, 647715-647733, 647774-647781, 647869-647882, 647906-647936, 648614-648636, 648643, 648652, 649733-649758, 649784, 649793-649795, 650036-650057, 650063, 650691, 650706-650709, 650793-650812, 651140-651144, 651155-651164, 651192-651230, 651255-651283, 652741, 652762-652772, 652775, 652779-652793, 654345, 655948, 656350, 656370, 656389-656390, 656972, 657568-657572, 657659, 659044-659062, 659112-659118, 663835-663845, 663876
489IDUA40.2145769622833815411962980873-980952, 980957-981030, 981605, 981615-981719, 981737, 994402-994410, 994418-994429, 994435, 994437-994452, 994469-994485, 994675, 994711-994714, 994755-994777, 995291-995292, 995320-995351, 995470-995612, 995624-995658, 995667-995669, 995770-995841, 995868, 995879-995949, 996057-996120, 996161-996273, 996520-996530, 996538-996732, 996824-996945, 997133-997258, 997337-997413, 997800-997819, 997828, 997831-997832, 997853-997872, 997886-997900, 998048-998108, 998133-998134, 998158-998165, 998174
490FGFR340.44993819530284133524271795662-1795712, 1795724-1795770, 1800981-1800997, 1801004-1801097, 1801113-1801146, 1801152-1801230, 1801245-1801250, 1801474-1801517, 1801523, 1801528-1801539, 1803094-1803114, 1803117, 1803122-1803126, 1803142-1803209, 1803237-1803263, 1803347-1803359, 1803372-1803374, 1803397-1803399, 1803409-1803470, 1803572-1803576, 1803579-1803589, 1803595-1803752, 1804641-1804656, 1804666-1804684, 1804712-1804742, 1806110-1806134, 1806140-1806191, 1806200-1806241, 1806560-1806568, 1806571, 1806575-1806583, 1806645-1806696, 1807111, 1807115, 1807121, 1807130-1807133, 1807289-1807302, 1807308-1807310, 1807328-1807348, 1807548-1807566, 1807584-1807596, 1807778-1807797, 1807828-1807835, 1807894, 1807984-1808012, 1808026-1808037, 1808052, 1808352, 1808409-1808410, 1808556-1808588, 1808623-1808630, 1808637-1808661, 1808843-1808890, 1808916-1808918, 1808929-1808972, 1808977-1808979, 1808984, 1808987
491SH3BP240.8874528809908520918572819960-2819981, 2819991-2820104, 2820111-2820117, 2826442-2826444, 2831348, 2831541-2831560, 2831790, 2831828-2831865, 2835525, 2835529, 2835545
492HTT40.9818644607063317194293076600-3076603, 3076604-3076725, 3076744-3076759, 3076761, 3076764, 3076800-3076801, 3076807-3076815, 3234904, 3234975, 3234984, 3235010, 3241775-3241786
493DOK740.3518151815181598215153465103-3465156, 3465233-3465278, 3475139, 3475163-3475201, 3475236, 3475245-3475252, 3475270-3475297, 3475320, 3475354, 3475359-3475360, 3478069-3478180, 3478186-3478236, 3478244-3478269, 3487267-3487268, 3487286, 3487313-3487351, 3487365-3487370, 3491479, 3494486-3494515, 3494526-3494596, 3494604-3494643, 3494662-3494673, 3494690, 3494699-3494713, 3494724-3494740, 3494760-3494797, 3494807-3494831, 3494842-3494889, 3494912, 3494928-3495167, 3495183-3495207
494DOK740.243654822335034475913494489-3494515, 3494526-3494596, 3494604-3494643, 3494662-3494673, 3494690, 3494699-3494713, 3494724-3494740, 3494760-3494797, 3494807-3494831, 3494842-3494889, 3494912, 3494928-3495079
495EVC240.99898141074612439275710083-5710086
496EVC40.9657603222557910229795713108-5713130, 5713136-5713159, 5713193-5713208, 5713253-5713281, 5754733-5754735, 5755636-5755642
497WFS140.99775533108866626736279347-6279352
498QDPR40.99591836734694373517513661-17513663
499COQ240.9878787878787914115584205894-84205897, 84205903-84205912
500CDS140.9971139971144138685504612-85504615
501PKD240.9924320605435222290788928950-88928958, 88928963-88928969, 88928971-88928973, 88929024, 88929033, 88929077
502MTTP40.9981378026070852685100530002-100530006
503CISD240.9264705882352930408103808512-103808522, 103808569-103808587
504CFI40.9994292237442911752110723114
505CTSO40.997929606625262966156874998-156874999
506GLRB40.9993306559571611494158041716
507GK40.95246690734055791662166199345, 166199361, 166199386-166199432, 166199558-166199569, 166199600-166199610, 166200757-166200763
508SLC25A440.9888517279821610897186064620-186064629
509SDHA50.98546365914787291995218486-218514
510SLC6A1950.6068241469816374919051201766-1201967, 1208886-1208910, 1208915, 1208921, 1208934-1208974, 1208981-1209001, 1210559-1210574, 1210585-1210610, 1210628-1210652, 1210662-1210678, 1212492, 1212512-1212515, 1212564-1212589, 1213578-1213688, 1214068-1214125, 1214130-1214139, 1214149, 1214158-1214161, 1216673-1216695, 1216775-1216801, 1216904, 1217013-1217040, 1217053, 1219105-1219112, 1219620-1219635, 1219644, 1219653, 1219663, 1219680-1219696, 1219730-1219739, 1219742-1219758, 1219764-1219767, 1219771, 1219777-1219779
511TERT50.47425713445131178733991253843-1253876, 1253892-1253896, 1253911, 1253928-1253930, 1253941, 1254487-1254491, 1254503-1254505, 1254530, 1254562-1254575, 1255489-1255501, 1255505-1255506, 1258713-1258717, 1258724-1258725, 1258728, 1258732, 1258737, 1258760, 1258770-1258774, 1264519-1264530, 1264553-1264604, 1264642-1264656, 1264686, 1264697-1264707, 1266579, 1266649-1266650, 1268635-1268667, 1268673-1268734, 1271234-1271258, 1271273-1271277, 1271280-1271311, 1272300-1272395, 1278756-1278798, 1278816-1278831, 1278844-1278870, 1278887-1278911, 1279406-1279437, 1279449-1279585, 1280287-1280323, 1280348-1280376, 1280433, 1280441-1280445, 1293439-1293485, 1293585, 1293592-1293608, 1293643-1293690, 1293711-1293718, 1293740-1293766, 1293810-1293853, 1293877-1293879, 1293913-1293919, 1293938-1293980, 1294017, 1294022-1294025, 1294045-1294089, 1294123-1294134, 1294160-1294216, 1294236-1294433, 1294439-1294442, 1294456-1294457, 1294467, 1294499-1294534, 1294537-1294539, 1294545-1294619, 1294621, 1294633, 1294644-1294645, 1294661-1294781, 1294886-1294891, 1294906, 1294916-1295020, 1295035-1295104
512SLC6A350.7804616210413340918631406316-1406335, 1406350-1406390, 1409162, 1409166, 1409169-1409170, 1409219-1409240, 1409865-1409898, 1409906-1409916, 1409924, 1409927, 1409931-1409933, 1409943-1409964, 1411384-1411393, 1411397-1411400, 1411412, 1411429-1411459, 1414823-1414898, 1416256, 1420691, 1420736-1420769, 1420807-1420810, 1422020-1422046, 1422056, 1422070-1422129
513SDHA50.95107033639144163271594533-1594546, 1594568-1594569
514NDUFS650.94133333333333223751801552-1801573
515FAM134B50.9779116465863533149416616809-16616830, 16616861, 16616961-16616970
516NIPBL50.997979797979817841537048651, 37048658-37048673
517SMN250.974011299435032388569362946-69362961, 69372369-69372375
518SMN250.974011299435032388570238370-70238385, 70247789-70247795
519HEXB50.995810891681637167173981126, 73981142-73981147
520RASA150.9961832061068712314486669980-86669981, 86670126-86670135
521GPR9850.9997885946831641892190144565-90144566, 90144597-90144598
522LMNB150.900056785917091761761126113201-126113216, 126113246-126113288, 126113323-126113360, 126113372-126113373, 126113383-126113393, 126113426, 126113429, 126113441-126113493, 126113502-126113503, 126113518-126113519, 126113553-126113559
523FBN250.99622382423618338739127873102, 127873135-127873137, 127873268-127873296
524SLC22A550.96356033452808611674131705665-131705666, 131705678-131705679, 131705694-131705695, 131705704, 131705821-131705846, 131705861-131705887, 131706025
525SIL150.99855699855721386138286931, 138287519
526TCOF150.9986225895316864356149737399-149737402, 149759096, 149767651
527NIPAL450.9978586723768731401156887225, 156887254, 156887361
528NKX2-550.9846153846153815975172659753, 172659882, 172659977, 172660044-172660051, 172661971-172661974
529MSX250.8271144278607139804174151663-174151673, 174151700-174151739, 174151774-174151795, 174151836-174151876, 174151891-174151897, 174151957-174151972, 174156410, 174156444
530F1250.9347079037800738582176830264-176830266, 176830299-176830322, 176830367-176830377
531F1250.776515151515154131848176830264-176830266, 176830299-176830322, 176830367-176830398, 176830482, 176830537-176830562, 176830574-176830590, 176830874-176830941, 176830953-176830954, 176830968-176831032, 176831059-176831067, 176831076-176831085, 176831198-176831202, 176831232-176831249, 176831255, 176831271-176831273, 176831277-176831279, 176831302, 176831306, 176831336-176831382, 176831513-176831514, 176831538-176831596, 176831617-176831629, 176831826, 176831830-176831831
532NHP250.984848484848487462177580686-177580692
533GRM650.97949886104784542634178413915-178413917, 178413947, 178421554-178421580, 178421661-178421662, 178421677-178421687, 178421933, 178421937-178421945
534SQSTM150.920634920634921051323179247937-179247956, 179247977, 179247981, 179248011-179248072, 179248097, 179248109-179248116, 179248130-179248141
535FLT450.2688172043010829924092180038341-180038356, 180038360-180038361, 180039531, 180039594-180039599, 180041175-180041179, 180043370-180043399, 180043406-180043408, 180043410, 180043449-180043458, 180043482-180043489, 180043904-180043925, 180043968-180043972, 180045770-180045920, 180046021-180046037, 180046052-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048132, 180048158-180048225, 180048241-180048252, 180048542-180048904, 180049731-180049783, 180049807-180049832, 180050935-180050963, 180050981-180050983, 180050986-180051011, 180051023-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076492-180076545
536FOXC160.610108303249164816621610682-1610691, 1610733-1610738, 1610762-1610764, 1610785-1610799, 1610818-1610821, 1610831, 1610840-1610865, 1610867, 1610880-1610902, 1611014-1611016, 1611019-1611035, 1611051, 1611071-1611076, 1611079-1611097, 1611137-1611149, 1611180-1611226, 1611281-1611292, 1611301-1611305, 1611315-1611368, 1611415-1611442, 1611458-1611523, 1611546-1611556, 1611562, 1611573-1611613, 1611618-1611619, 1611643-1611660, 1611671-1611720, 1611764-1611853, 1611922-1611932, 1612012-1612045, 1612179-1612180, 1612185-1612208, 1612211-1612213, 1612227
537TUBB2B60.973094170403593613383225230, 3225429-3225455, 3225536, 3225592, 3227724, 3227727, 3227731-3227734
538DTNBP160.993371212121217105615663064-15663070
539ATXN160.9893790849673226244816327850-16327851, 16327862-16327867, 16327878-16327879, 16327882, 16327888, 16327894, 16327897-16327902, 16327916-16327918, 16327921-16327924
540ALDH5A160.995749848208867164724495389-24495395
541HLA-H60.6853333333333323675029855764-29855767, 29855844-29855879, 29855901, 29855939-29855945, 29855993-29855995, 29856000-29856001, 29856270-29856273, 29856281, 29856284-29856285, 29856300-29856405, 29856423-29856466, 29856516, 29856534, 29856550, 29856593-29856614, 29856643
542CFB60.999736911339121380131911257
543TNXB60.92120269569725152192931976896-31976929, 31977095, 31977168-31977174, 31977388-31977394, 31977525-31977555, 31977610, 31977998, 31978498-31978517, 31978782-31978793, 31979450-31979454, 31979476-31979498, 31979524-31979531, 31979963, 31980000
544CYP21A260.9932795698924710148832006215-32006217, 32006317, 32006337, 32006886, 32006960, 32006963-32006964, 32006979
545TNXB60.989708539555351311272932009648-32009664, 32009892-32009909, 32010123-32010129, 32010259-32010289, 32010344-32010347, 32010732, 32010960, 32011235, 32011248, 32012330-32012336, 32012378-32012385, 32012814-32012820, 32025887-32025914
546HLA-DQA160.867187510276832609094, 32609105-32609106, 32609126, 32609130, 32609139-32609153, 32609169, 32609181, 32609227, 32609231, 32609236, 32609286, 32610387-32610406, 32610475-32610498, 32610510-32610541
547HLA-DQB160.7468193384223919978632629124-32629173, 32629224-32629234, 32629963, 32632575-32632653, 32632680-32632720, 32632744-32632745, 32632767-32632774, 32632779-32632784, 32632818
548SYNGAP160.9811507936507976403233388042-33388108, 33411548-33411556
549FANCE60.9702048417132248161135420402-35420449
550TULP160.9828115408225928162935479569-35479578, 35479960-35479977
551MOCS160.78074306645735419191139883941, 39893422-39893589, 39895068-39895317
552PRPH260.994236311239196104142672161-42672166
553PEX660.9921848453958523294342946524, 42946532, 42946645-42946665
554RSPH960.975932611311672083143612848-43612850, 43612853-43612854, 43612857, 43612860, 43612894, 43612898, 43612926, 43612936, 43612996-43612998, 43613043-43613047, 43613053
555RUNX260.9833971902937426156645390466, 45390475-45390499
556RIMS160.9980311084859210507972892353-72892362
557PDSS260.99166666666667101200107780266-107780275
558SEC6360.99474375821288122283108279199-108279210
559OSTM160.97512437810945251005108395692, 108395698-108395699, 108395784-108395797, 108395800-108395804, 108395812-108395814
560COL10A160.99314733235438142043116442336-116442338, 116442341-116442350, 116442355
561ENPP160.99280057595392202778132129179, 132129182-132129195, 132129288, 132129299, 132129303-132129305
562PEX760.9835390946502116972137143859-137143873, 137143907
563TBP60.96666666666667341020170871014-170871019, 170871026-170871027, 170871037-170871040, 170871043, 170871046, 170871052-170871055, 170871064, 170871067-170871079, 170871082, 170871085
564LFNG70.4070175438596567611402559496-2559927, 2564339-2564377, 2564860-2564891, 2564922-2564929, 2564943-2564952, 2565066-2565068, 2565071-2565112, 2565181, 2565343, 2565361-2565391, 2565892-2565899, 2565971-2565992, 2566011, 2566018-2566020, 2566023-2566025, 2566039, 2566474-2566500, 2566516-2566524, 2566819, 2566843-2566844
565PMS270.99729625337968725896018249, 6026390-6026395
566TWIST170.6633825944170820560919156405-19156406, 19156524-19156535, 19156554-19156557, 19156560-19156583, 19156644-19156659, 19156685-19156697, 19156733-19156744, 19156793-19156914
567DNAH1170.9995579133510261357221630950-21630955
568HOXA1370.72322193658955323116727239082-27239084, 27239116-27239118, 27239212-27239222, 27239295-27239511, 27239526-27239535, 27239545-27239586, 27239593-27239599, 27239601-27239616, 27239624, 27239638, 27239646-27239649, 27239654, 27239676-27239677, 27239692-27239696
569GLI370.998313303816158474342005218-42005224, 42005678
570PGAM270.99737532808399276244104591, 44104806
571GCK70.9379014989293487140144185141-44185145, 44185183, 44185210, 44186080-44186117, 44186179, 44186182, 44189598, 44190645, 44191870-44191877, 44191900, 44191903-44191904, 44192954-44192960, 44193043-44193062
572CCM270.82846441947566229133545039933-45039962, 45113068, 45113130-45113169, 45113894-45113921, 45113959-45113995, 45115379-45115420, 45115514-45115518, 45115546-45115567, 45115626-45115649
573EGFR70.99807321772647363355087001-55087007
574GUSB70.9616564417177975195665439321, 65439330-65439331, 65439337-65439341, 65439610-65439624, 65439665-65439691, 65444860-65444862, 65447017, 65447077-65447087, 65447118-65447127
575ASL70.81146953405018263139565546973-65546975, 65547888-65547911, 65551614-65551630, 65551738-65551763, 65551781, 65551793-65551799, 65552362-65552373, 65552716-65552735, 65553816-65553851, 65553856, 65553875-65553888, 65554095-65554139, 65554162, 65554307-65554322, 65554633-65554643, 65556998-65557010, 65557544-65557551, 65557581-65557583, 65557837-65557839, 65557850-65557851
576KCTD770.901149425287368687066094074-66094078, 66094084-66094086, 66094089-66094091, 66094119-66094120, 66094123-66094195
577NCF170.887272727272739382572639983-72639989, 72640024, 72640047, 72643601-72643648, 72643707, 72645874, 72645877, 72645881, 72645890, 72645893, 72648696, 72648699-72648701, 72648725-72648750
578ELN70.9572413793103493217573442529-73442574, 73462044-73462045, 73466106-73466112, 73466260-73466297
579NCF170.74083546462063304117374191613-74191616, 74193639-74193671, 74193703-74193704, 74197282-74197315, 74197326, 74197357-74197396, 74197914, 74197927, 74197955-74197956, 74199546, 74199557, 74199560, 74199564, 74199573, 74202376, 74202381, 74202404-74202432, 74202903-74202917, 74202920, 74202929, 74202933-74202935, 74202939, 74202943, 74202946-74202947, 74202954-74202955, 74202987-74203048, 74203383-74203411, 74203446-74203478
580POR70.70925110132159594204375609671, 75609677, 75609766-75609780, 75610375-75610379, 75611585, 75611630-75611631, 75612852, 75613067-75613097, 75613123, 75613147, 75613154, 75613167-75613174, 75614109, 75614135-75614144, 75614177-75614209, 75614231-75614268, 75614275-75614276, 75614376-75614525, 75614915-75614916, 75614919-75614954, 75614991-75615061, 75615094-75615103, 75615113, 75615128-75615167, 75615251-75615273, 75615280, 75615303, 75615309-75615337, 75615360-75615386, 75615503-75615512, 75615527-75615559, 75615701-75615703, 75615709-75615713
581HSPB170.941747572815533661875932089-75932092, 75932095, 75932098-75932099, 75932103, 75932228, 75932244-75932256, 75932274-75932287
582TFR270.9995843724023312406100238701
583RELN70.99961453213838410377103629800-103629803
584CFTR70.97996848975917894443117188713-117188753, 117188760-117188800, 117188847-117188853
585IMPDH170.939444444444441091800128045882-128045893, 128049814-128049818, 128049833-128049917, 128049949-128049955
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636NOTCH190.1652321335419964017668139390523-139390542, 139390557-139390563, 139390575-139390624, 139390683-139390692, 139390748, 139390763-139390764, 139390788-139390806, 139390814-139390850, 139390857, 139390865-139390891, 139390898-139390989, 139391027-139391076, 139391097-139391104, 139391129-139391136, 139391146-139391201, 139391258-139391378, 139391386-139391444, 139391460, 139391467-139391468, 139391471-139391557, 139391583-139391602, 139391605, 139391610, 139391614-139391617, 139391620-139391630, 139391642-139391645, 139391654-139391673, 139391681-139391959, 139391968-139392010, 139393371-139393379, 139393413-139393423, 139393428-139393431, 139393585, 139393588, 139393593-139393594, 139393617-139393643, 139393664-139393678, 139393689-139393711, 139395004-139395035, 139395043-139395299, 139396200-139396275, 139396285-139396315, 139396337-139396365, 139396453-139396475, 139396483-139396501, 139396532, 139396724-139396764, 139396773-139396848, 139396856-139396940, 139397639-139397642, 139397662-139397707, 139397715-139397731, 139397755-139397782, 139399143-139399330, 139399340-139399392, 139399405-139399555, 139399762-139399804, 139399814-139399822, 139399830-139399862, 139399868-139399909, 139399920-139399977, 139399983, 139399997-139400001, 139400011-139400093, 139400122-139400333, 139400979-139401076, 139401084-139401091, 139401169-139401218, 139401236-139401237, 139401254-139401255, 139401258, 139401275-139401308, 139401319-139401370, 139401376-139401423, 139401757-139401760, 139401788-139401791, 139401799-139401816, 139401826-139401833, 139401840-139401881, 139402407-139402443, 139402447, 139402470, 139402498-139402522, 139402536-139402591, 139402684-139402776, 139402787, 139402802, 139402819-139402837, 139403322-139403373, 139403380-139403523, 139404185-139404217, 139404249, 139404254-139404302, 139404316-139404362, 139404374-139404375, 139404388-139404391, 139404394-139404399, 139404408-139404412, 139405105-139405257, 139405604-139405627, 139405652-139405659, 139405678-139405723, 139407473-139407586, 139407844-139407909, 139407919-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413234, 139413248-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
637AGPAT290.45161290322581459837139568204-139568252, 139568285-139568286, 139568304-139568344, 139568348-139568350, 139568361-139568362, 139568367-139568379, 139569187-139569212, 139569232, 139569247-139569259, 139571073, 139571096, 139571126-139571132, 139571413-139571434, 139571542-139571588, 139571878-139571884, 139571903-139571905, 139571907-139571920, 139571971-139571990, 139571993-139571997, 139581628-139581809
638SLC34A390.2111111111111114201800140126155-140126162, 140126168-140126174, 140126213-140126214, 140126543, 140126570-140126571, 140126589-140126596, 140127036-140127081, 140127088-140127115, 140127131, 140127145-140127151, 140127236-140127268, 140127294-140127324, 140127378-140127379, 140127456-140127509, 140127520-140127535, 140127560-140127567, 140127661-140127807, 140127813-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128654, 140128669-140128672, 140128675-140128728, 140128882-140128984, 140129059-140129064, 140129078-140129104, 140129124-140129166, 140129174-140129183, 140130404-140130868
639EHMT190.820631254811396993897140513481-140513501, 140605419-140605454, 140611078-140611634, 140622921-140622938, 140638517-140638535, 140669661, 140672500-140672507, 140728935-140728938, 140728949, 140728952, 140728965-140728976, 140729295, 140729303-140729311, 140729319-140729326, 140729396, 140729399-140729400
640SHOXX0.5608646188851386879591633-591652, 591669-591819, 591850-591909, 595353-595356, 595380-595381, 595386, 595394-595400, 595404-595406, 595424-595561
641CSF2RAX0.6084291187739551113051401601, 1401637-1401672, 1404671-1404679, 1404695-1404704, 1404709, 1404774-1404777, 1404798, 1404804-1404806, 1409230-1409237, 1409299, 1409302-1409319, 1409325, 1409336-1409337, 1409367-1409373, 1413221-1413223, 1413247-1413260, 1413265-1413275, 1413278-1413354, 1414320-1414331, 1419384-1419413, 1419431-1419519, 1422154-1422253, 1422816-1422837, 1422864, 1422868, 1424369-1424372, 1424375, 1424378-1424386, 1424402-1424420, 1428353-1428368
642SMSX0.9891008174386912110121958961-21958972
643ARXX0.93428063943162111168925031477-25031479, 25031510-25031553, 25031654-25031692, 25031699-25031702, 25031713, 25031718-25031719, 25031724-25031728, 25031769-25031781
644RPGRX0.87713211910957425345938145194, 38145271-38145272, 38145277-38145314, 38145338-38145388, 38145400-38145463, 38145477-38145618, 38145633, 38145639, 38145645, 38145651-38145670, 38145683, 38145700-38145713, 38145718-38145724, 38145735-38145767, 38145797, 38145824-38145836, 38145845-38145848, 38145940-38145970
645NYXX0.90525587828492137144641332858-41332877, 41332881-41332883, 41332960-41332962, 41333080, 41333129-41333138, 41333161-41333172, 41333220-41333227, 41333238, 41333282-41333306, 41333338-41333344, 41333401-41333402, 41333427-41333452, 41333521, 41333538-41333555
646CACNA1FX0.9944388270980833593449061694-49061700, 49066862, 49067071-49067075, 49067102-49067121
647ARX0.9920376402461122276366765159-66765173, 66765176, 66766357-66766362
648TAF1X0.9927842309046141568270586170-70586210
649SLC16A2X0.999457111834961184273641569
650BRWD3X0.999445368829733540980064952-80064954
651PCDH19X0.999395039322442330699663570, 99663573
652XIAPX0.9953145917001371494123025126-123025132
653OCRLX0.9996304508499612706128674430
654GPC3X0.9971313826735551743133119472-133119476
655ZIC3X0.9978632478632531404136648985-136648987
656SOX3X0.97390007457122351341139586140-139586145, 139586482-139586494, 139586499, 139586506, 139586513-139586515, 139586689-139586699
657FAM58AX0.9510204081632736735152864474-152864480, 152864483-152864487, 152864498-152864521
658SLC6A8X0.919287211740041541908152954034-152954035, 152954041-152954047, 152954063, 152954077-152954084, 152954093-152954203, 152954225-152954234, 152954263, 152954266-152954272, 152960595-152960601
659ABCD1X0.9562109025916982238152990775-152990782, 152990927-152990930, 152990987-152990997, 152991108-152991113, 153009080-153009108, 153009116-153009155
660MECP2X0.9973279893119641497153363082, 153363087, 153363093-153363094
661OPN1MWX0.98264840182648191095153455583-153455601
662OPN1MWX0.98264840182648191095153492701-153492719
663FLNAX0.943101711983894527944153577815-153577824, 153577877-153577888, 153578211-153578216, 153580311-153580315, 153580379, 153580639-153580648, 153581397-153581400, 153581451-153581453, 153581509-153581510, 153581732-153581737, 153582092-153582095, 153582548-153582555, 153585818-153585841, 153585847, 153585877-153585879, 153585923-153585929, 153586567-153586575, 153586604-153586620, 153586647-153586653, 153586829-153586840, 153586866-153586868, 153587731-153587732, 153587908, 153588129, 153588495-153588500, 153588554-153588594, 153588814-153588816, 153588828-153588833, 153588876-153588882, 153588939-153588940, 153588943-153588946, 153589759-153589792, 153589817-153589826, 153590380-153590381, 153590412, 153590621, 153590937-153590938, 153592413-153592418, 153592894-153592909, 153593782, 153594819-153594830, 153594943-153594945, 153595100-153595118, 153596210-153596231, 153596241-153596243, 153596246, 153596251, 153596258-153596263, 153599247-153599261, 153599276-153599277, 153599283, 153599288-153599292, 153599318-153599319, 153599423-153599435, 153599493, 153599496-153599498, 153599501-153599518, 153599543-153599548, 153599558, 153599596-153599613
664EMDX0.99215686274516765153608090-153608095
665TAZX0.9860583016476611789153640239-153640243, 153640444, 153640547-153640551
666GDI1X0.99255952380952101344153665601-153665603, 153668810-153668816
667G6PDX0.9945054945054991638153761791-153761794, 153761879-153761883
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
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
2ALAD-K59Nhet unknown0.059Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-M579Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2RAD51C-T287Ahomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-F31Ihomozygous0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5FCGR2B-I232Thet unknown0.133Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-I493Thomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
1BBS9-A427VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BBS9-A455Thomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL6A2-E106Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
1CYP3A4-M445Thet unknown0.006Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
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
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1NEFL-D468Nhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-D210Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TFR2-R455Qhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.982 (probably damaging), Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-N830Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-R8735Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-C4021Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ABCC6-R265Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CENPJ-M21Vhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HTT-G893Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT10-G565GGYGGGSSSGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SLCO1A2-E172Dhet unknown0.042Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1SLCO1A2-I13Thet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKP2-L366Phet unknown0.221Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKP2-S70Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CELA1-L210Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CCR7-M7Vhomozygous0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.364 (possibly damaging)
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1USH2A-N3199Dhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-T3115Ahet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-L2886Fhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-E2238Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-L2688Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R545Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
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-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
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RPGR-Q456RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1ZNF41-I125Rhomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALDH3A2-Q10Ehet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5MYOCD-Q647Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5APH1B-F217Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
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
0.5UNC45B-V60Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5ABCG8-Y54Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF19-R224Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF19-Q218Hhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SRD5A2-L88Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRD5A2-A48Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOD2-P268Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYLK3-I654Vhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5MCEE-A76Vhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-Q307Ehet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LITAF-I92Vhomozygous0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027336-P160Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-V73Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALOX15-T560Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.388 (possibly damaging)
0.5WNK4-P1025Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XDH-G172Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
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
0.5ZNF562-G141Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ICAM1-G241Rhet unknown0.075Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehomozygous0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF317-Q19Hhomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF317-Q19Hhomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-Q233*het unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-G282Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CARD8-Q356Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5CARD8-C10*het unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FBN3-E2610Dhomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-P1958Hhomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-L1904Fhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-V1326Ihomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R1083Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-V938Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-D662Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF563-R353*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FCGBP-A5017Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FCGBP-D4906Hhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5FCGBP-A4607Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-G4465Shet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-GM1616VVhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-P1436Lhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.325 (possibly damaging)
0.5WDR62-L850Shomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-A1271Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhomozygous0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPAMD8-Q1890Rhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-C1724Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-A1351Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-T1315Ihomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-H593Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-D586Ehet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V369Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-M368Ihet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THAP8-P157Shet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5THAP8-K112Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5THAP8-R70Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ANGPTL7-Q175Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-H1133Qhet unknown0.013Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MAN2B1-E754Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-N413Shet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLF1-F182Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.815 (possibly damaging)
0.5KLF1-S102Phomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC130-S22Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CTDP1-S61Ahomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-T725Phomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLX4-N44Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TAF1B-A6Shet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5TAF1B-V282Ihomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1B-S323Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1B-T351Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5TAF1B-E462Dhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1B-T487Mhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.517 (possibly damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCHO1-R186Qhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5ABCA10-R1322Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5ABCA10-M916Thet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA10-I287Vhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ABCA10-P203Shet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FPR1-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-R190Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FECH-R102Qhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF271-S231Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DSG2-I293Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R854Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF813-S146Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5ZNF813-K446Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF600-C209Rhomozygous0.897Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF600-P129Rhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF600-H28Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHRS4L1-R122Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNNA3-S596Nhet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTNNA3-R535Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.525 (possibly damaging)
0.5UNC5B-I242Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-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
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SLC39A12-S36Ghet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-V304Ihet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-Q342Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5AGT-M268Thomozygous0.561Unknown
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
0.5AKR1C3-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
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPA14-T104Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDH23-R3Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
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
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5PLEKHA7-T236Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5IGSF22-T1276Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IGSF22-M559Vhet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5IGSF22-R472Qhet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5IGSF22-V414Ihet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGSF22-L130Rhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.932 (probably damaging)
0.5IGSF22-A94Phomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC6A5-G102Shomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS37C-L198Shet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS37C-T8Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NRIP3-R160Whet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5UBQLNL-W379Ghomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBQLNL-R375Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5UBQLNL-Q305*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UBQLNL-A275Vhet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBQLNL-Y274Hhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5UBQLNL-C171Rhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-L849Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAOX-V285Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-H1158Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5OBSCN-A1362Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-D2106Ehet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
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-E6927Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-E7156Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LEPRE1-M549Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5MAST2-D388Ehomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAST2-G1468Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.491 (possibly damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FOXD3-V96Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GJB4-C169Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5EPB41-V214Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A4071Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhet unknown0.788Unknown
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
0.5LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5NEGR1-Y347Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PRG4-R180Whomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-T604Ahomozygous0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-S195Lhomozygous0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBP1-S213Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P986Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE4DIP-R1940*het unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PDE4DIP-D1910Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-R1867Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PDE4DIP-A1757Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PDE4DIP-V1736Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5PDE4DIP-P1726PPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE4DIP-H1598Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PDE4DIP-R1504Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE4DIP-K1454Ehet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5PDE4DIP-W1396Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-K1266Ehet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5PDE4DIP-A1066Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.5PDE4DIP-F1013Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-M783Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.235 (possibly damaging)
0.5PDE4DIP-C708Rhomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PDE4DIP-R681Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5PDE4DIP-R622*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PDE4DIP-S536Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.914 (probably damaging)
0.5PDE4DIP-H482Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-S275Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.419 (possibly damaging)
0.5PDE4DIP-R25Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADRA2B-G211Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRC16B-R1129Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRC16B-G1161Vhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5ACIN1-S647SRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S643SHShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S478Fhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging)
0.5ACIN1-S467Phomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phet unknown0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhomozygous0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UTP14C-G85Vhomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UTP14C-R319Hhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC16-D564Ghet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.831 (possibly damaging)
0.5TXNDC16-E486Khet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5TXNDC16-A180Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5TRPM1-V1395Ihet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhomozygous0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-N3529Thomozygous0.909Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Y2922Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPTBN5-Q2816Ehet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-R1848*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPTBN5-R1525Hhet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-C1000Rhomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q960Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SERPINA1-V237Ahomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA7-V74Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-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
0.5TMEM132C-V160Ihomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-V332Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-T618Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM132C-G698Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-R806Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD52-R396Chet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.959 (probably damaging)
0.5APOBEC1-P108Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5APOBEC1-M80Ihet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWF-G2705Rhet unknown0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5ROBO3-A1062Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ROBO3-RS1367Delhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL10RA-R351Ghet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL10RA-S420Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5TM7SF2-A119Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TM7SF2-T299Ihet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-T671Ahet unknown0.246Unknown
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
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM123-V86Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5TMEM123-V71Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1122Whomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-A1226Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A2ML1-H1229Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-M1257Vhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CAPZA3-R39Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.901 (probably damaging)
0.5KRT6A-T552Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6A-V523Fhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5HOXC6-R67Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UTP20-R693Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5UTP20-L1882Qhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT6B-I365Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5GYS2-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-I723Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1407-R374Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A665Phet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDHB7-S568Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCDHB7-PL575LVhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR98-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-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), 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-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (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-S2764Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
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
0.5LIX1-P21Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5VWA3B-E372*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWA3B-L677Vhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-D1223Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A2-P1722Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC39A7-G124Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-T217Ihet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
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-M24Ihet unknown0.197Unknown
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-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTNL2-P393Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5BTNL2-M380Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.225 (possibly damaging)
0.5BTNL2-P379Lhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BTNL2-S360Ghomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D118Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-H-R72Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5NCRNA00243-R77*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ARSB-V358Mhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5AK057553-R31Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-C32Yhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G38Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK057553-A40Thet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNK2-R1086Hhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DLG1-P921Lhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PDE6B-Y273*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5PDE6B-L278Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-V536Mhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5CPN2-A305Thomozygous0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPA1-A210Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HCLS1-V436Lhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HCLS1-E375EPEPEPEPEPEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HCLS1-T235Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HCLS1-D166Nhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-L121Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-I258Nhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-K303Rhet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-M332Thet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG1L2-L157Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC2A9-R294Hhomozygous0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5SLC2A9-G25Rhomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPPP-K206Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPPP-S199Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPPP-L31Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTMR12-R701Chet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UFSP2-K103Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FSTL5-G193Ehet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5NR3C2-V180Ihomozygous0.899Unknown
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
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5IFNA1-V10Ahet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFNA1-A163Ghet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V771Mhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM154A-A422Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-K345Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-C313Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.087 (benign)
0.5FAM154A-P63Shomozygous0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-K27Ehomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5SNAPC3-E398Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5PKHD1L1-T1349Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PKHD1L1-D3437Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.78 (possibly damaging)
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CYP11B2-V386Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM83H-G902Ehet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5FAM83H-Q201Hhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZC3H3-P857Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZC3H3-S318Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5CDK5RAP2-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
0.5UBA1-R447Hhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), 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-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTC16-Y809Chet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5FPGS-I22Vhomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPGS-R466Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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
0.5LCN1-G100Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KIAA0649-V98Ahet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0649-K206Ehet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0649-R381Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA0649-M434Thet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0649-P461Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5KIAA0649-N834Dhomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
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-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRR15-P115Shet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5PRR15-P124Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5MACC1-R804Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5MACC1-A151Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MACC1-P50Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.566 (possibly damaging)
0.5VWDE-F1485Chet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K964Nhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G340Dhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-L1235Phet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5LAMA2-G600Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-V1138Mhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBXL18-R54Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH2D4A-E209Ghet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5SH2D4A-E216Ghet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5SH2D4A-S275Nhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB3-W64Rhet unknown0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFHX4-V66Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFHX4-P2016PPPPPPPPPPPPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFHX4-P2016PPPPPPPPPPPPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFHX4-I2036Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.077 (benign)
0.5ZFHX4-V3033Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.889 (probably damaging)
0.5PXDNL-D1452Ehet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-R1399Khomozygous0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-C1258*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PXDNL-M981Vhet unknown0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-I343Thet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.418 (possibly damaging)
0.5ABP1-T16Mhet unknown0.346Unknown
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)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MBLAC1-S43Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5MLL5-G999Chet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNF133-M1Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
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
0.5SCN5A-R1875Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-G545Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5NDUFV3-R200*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NDUFV3-D415Nhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POTED-R58Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL4A3-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-D326Yhomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EP300-Q2223Phet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-R492Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC5A1-N51Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
0.5SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-H615Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-R215Whet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests
0.5TCN2-R259Phet unknown0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEC14L3-R364Chet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.305 (possibly damaging)
0.5SEC14L3-D335Ehet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R214Hhet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5ACADL-T38Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL9A3-A435Ehomozygous0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5CSRP2BP-V400Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CSRP2BP-P600Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ZNF341-P185Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
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
0.5FERMT1-V241Ahet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIGLEC1-A974Vhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5SIGLEC1-H919Phomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC1-R464Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIGLEC1-K239Rhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC1-V221Mhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDRGK1-A303Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDRGK1-R164Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5PIGU-G333Ehet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5GDF5-S276Ahomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T492Shet unknown0.002Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D491Hhet unknown0.002Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPNE1-P535Lhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPNE1-V31Ihet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5KIAA2018-V2200Ahomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA2018-S1818Ghet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5D2HGDH-V338Ihet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.053 (benign), Testable gene in GeneTests
0.5D2HGDH-A420Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB59-R265Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.645 (possibly damaging), Testable gene in GeneTests
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R25112Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R20787Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K11752Ehet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-T4980Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
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
0.5NR_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
0.5ANO10-R462Qhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SNRK-P391Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5CCBP2-V41Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5ARL13B-T348Shet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5MERTK-S118Nhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR52-G534Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WDR52-R218Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TRIOBP-S540Delhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.375TRIOBP-S1294Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.375TRIOBP-H1300Rhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.375CFTR-R31Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RAX-R66Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ALG6-L455Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375STIL-L485Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CLCNKA-T312Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.375IFNGR2-N222Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AGXT-I340Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATPAF1-S62Ghomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATPAF1-S53*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTS13-Q448Ehet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EMID2-G215Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EMID2-G390Shifthomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25EMID2-A408Thomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
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
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THADA-C1605Yhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.25THADA-T1187Ahet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.25REPIN1-L71Phet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REPIN1-R149Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REPIN1-A154Vhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REPIN1-H252Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZFYVE27-A21Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZFYVE27-G138Vhet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAN1B1-M522Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAN1B1-S639Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25ADRB1-S49Ghet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNASEL-D541Ehet unknown0.475Unknown
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
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), 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
0.25PLEC-R2969Hhet unknown0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25NM_001144950-A357Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_001144950-L976Phomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001144950-T1182Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001144950-T1183Mhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001144950-H1186Qhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001144950-M1274Ihomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL6R-R98Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25ABO-V276Mhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABO-F215Ihet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABO-W180*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ABO-S74Phet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABO-H63Rhet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABO-F36Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-K493Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-M510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF233-W183*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF233-K531Thomozygous0.713Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF233-L662Shifthet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_014727-T176Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_014727-D2361Ghet unknown0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), 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
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DYNC2H1-K1413Rhomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-D3619Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25DYNC2H1-G4296Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25MKRN3-G26Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MKRN3-A162Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRDM8-A590Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRDM8-A595Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25FAM82A2-N434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM82A2-Q33Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM82A2-G19Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TSHR-E727Dhet unknown0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTC9-A18Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TTC9-L29Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTC9-P103Ahomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.071 (benign)
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL7A1-P595Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ENO3-N71Shet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ENO3-V85Ahet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ENO3-V311Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DDX28-T477Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DDX28-T4Ahomozygous0.948Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably 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
0.25FLNB-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
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.25EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NT5DC2-L351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NT5DC2-S128Rhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.605 (possibly damaging)
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-P821Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZBTB4-D651Ehet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ZBTB4-A5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLD1-A622Shet unknown0.179Unknown
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
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.390Unknown
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)
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-K532Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-D386Nhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-E825Dhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI2-A558Thet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-A245Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R238Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-Y1512Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0FLNC-G1924Shifthet 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
0CCR5-S185Shifthet unknown0.048Recessive
protective
Insufficiently evaluatedPrioritization score: 2
Frameshift

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,762,683,521 bases (96.7% of callable positions, 89.7% of total positions)

Coding region coverage: 31,604,971 bases (95.0% of all genes, 96.0% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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