Variant report for
- This report: evidence.pgp-hms.org/genomes?display_genome_id=123a2a162da4c4c399e107d4c5d07d09ed0f45d6&access_token=b08f129c4e03b38bc496e733193a37f6
- Download: source data, dbSNP and nsSNP report (121 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | CFTR-G576A | High | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.00474684 | Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del. | 1 |
| 2 | SHH-V13Shift | High | Uncertain | Uncertain pathogenic Dominant, Heterozygous | Reported to cause holoprosencephaly in a dominant manner, causing facial and brain deformity. This comes from a ClinVar entry, where it is reported by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000056099/). | 1 | |
| 3 | CFTR-F1052V | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | Reported to cause "nonclassic" cystic fibrosis, presumably in a recessive manner. This report comes from ClinVar, where it was reported by LabCorp: http://www.ncbi.nlm.nih.gov/clinvar/RCV000029520/ | 1 | |
| 4 | PPARG-P12A | Moderate | Uncertain | Uncertain not reviewed Unknown, Homozygous | 0.0886782 | 1 | |
| 5 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Homozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 6 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This 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 |
| 7 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 8 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Homozygous | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 9 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 10 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 11 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 12 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This 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 |
| 13 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
| 14 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This 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 |
| 15 | ABCG5-R50C | Low | Likely | Likely protective Unknown, Heterozygous | 0.0684142 | This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels. | 1 |
| 16 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
| 17 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Homozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
| 18 | NEFL-S472Shift | Low | Likely | Likely 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 | |
| 19 | SLC45A2-E272K | Low | Likely | Likely benign Unknown, Heterozygous | 0.0290946 | Pigmentation allele for black hair in Caucasian population. | 1 |
| 20 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.255899 | Associated 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 |
| 21 | CASP8-M1T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0310451 | Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic. | 1 |
| 22 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.270682 | This 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 |
| 23 | EDAR-V370A | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0105968 | Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific. | 1 |
| 24 | ERCC6-R1230P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0695297 | Probably benign. | 1 |
| 25 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 26 | GFAP-D295N | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0333767 | Reported as a nonpathogenic polymorphism. | 1 |
| 27 | F5-M413T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0580963 | Presumed benign. This variant is not particularly rare and has not been reported to cause disease. | 1 |
| 28 | F5-D2222G | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0448968 | Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign. | 1 |
| 29 | GJB2-V27I | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00269567 | Probable non-pathogenic; other variants in gene associated with hearing loss. A few controversial mutations of uncertain or evolving clinical significance are included in this prototype. Examples include V27I, M34T, V37I, and E114G in the GJB2 gene and IVS2-2AG in the SLC26A5 gene. This variant is also observed both in Case and Control in the study of hearing loss. | 1 |
| 30 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.21016 | One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. | 1 |
| 31 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This 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 |
| 32 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 33 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 34 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32048155 / 33282720 = 96.29%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.56972955360052 | 2641 | 6138 | 955553-955753, 957588-957609, 957635-957638, 957654-957663, 957667-957679, 957692-957702, 957719, 957729-957827, 970657-970671, 970677-970691, 976077-976079, 976116-976131, 976150-976189, 976205-976206, 976212-976260, 976553-976558, 976574, 976578-976604, 976608-976609, 976626-976702, 976713-976760, 976894-976907, 976955, 976987-977025, 977353-977360, 977443-977445, 977472-977513, 978622-978624, 978670-978673, 978676, 978689-978690, 978716-978717, 978771, 978777, 978830, 978941-978972, 979000-979030, 979042-979060, 979090-979097, 979229, 979277, 979373-979377, 979380, 979383, 979387-979398, 979402-979403, 979526-979534, 979546, 979577, 979620-979637, 979716, 979735, 979744, 979752, 979789-979793, 980568, 980589-980607, 980649, 980768, 980777, 980785, 980788, 980815, 980870-980873, 981146, 981181, 981221, 981245-981256, 981404-981425, 981450-981457, 981540-981568, 981610, 981645, 981777-981807, 981818-981825, 981853-981888, 981916-981990, 982031-982070, 982203-982293, 982311-982324, 982707-982710, 982741, 982747, 982780, 982981-982999, 983006, 983022, 983064-983067, 983163-983191, 983195, 983198, 983212-983213, 983216, 983231, 983246, 983262-983275, 983392-983427, 983463-983546, 983564-983581, 983588-983745, 984247-984248, 984259-984375, 984386-984439, 984616-984720, 984730-984763, 984799-984831, 984946-984952, 984957, 984968, 984971, 984981, 984996, 985001-985011, 985042-985048, 985068-985137, 985143-985170, 985333-985351, 985380-985417, 985613, 985628, 985642, 985647, 985815, 985818, 985874-985894, 985944-985960, 986190-986217, 986633-986636, 986685-986749, 986833-986920, 986927-986958, 987108-987111, 987114-987123, 987146, 987149-987152, 987168, 987191-987195, 989134, 989207-989220, 989250, 989255, 989285, 989288-989292, 989349-989354, 989357, 989829-989831, 989835, 989880-989882, 989889-989903, 989905-989908, 989912, 990255-990275, 990280, 990297-990324, 990333-990336 |
| 2 | GABRD | 1 | 0.70860927152318 | 396 | 1359 | 1950863-1950930, 1956824, 1956957-1956970, 1957019-1957047, 1957106, 1957114, 1957145, 1957152, 1959016-1959042, 1959677-1959706, 1959727-1959728, 1959731, 1960589, 1960592, 1960600-1960614, 1960634-1960676, 1960990-1961021, 1961049-1961056, 1961100-1961102, 1961132, 1961172, 1961182-1961187, 1961422-1961427, 1961441-1961463, 1961526, 1961531-1961532, 1961553-1961554, 1961557, 1961570, 1961585-1961587, 1961590-1961592, 1961598, 1961601-1961615, 1961620-1961622, 1961649-1961681, 1961707-1961721 |
| 3 | PEX10 | 1 | 0.56269113149847 | 429 | 981 | 2337210, 2337232-2337273, 2337923-2337976, 2338015, 2338020-2338033, 2338179, 2338209, 2338229-2338230, 2338256-2338279, 2338325-2338327, 2339989-2340067, 2340140-2340151, 2340160, 2340166-2340215, 2340224, 2340227, 2340235-2340243, 2340269-2340278, 2341824-2341837, 2341872, 2341890, 2343830-2343899, 2343905-2343941 |
| 4 | NPHP4 | 1 | 0.95982247138519 | 172 | 4281 | 6012872, 6029147-6029172, 6038330-6038473, 6046215 |
| 5 | ESPN | 1 | 0.80662768031189 | 496 | 2565 | 6485016-6485058, 6485065-6485161, 6485188-6485193, 6485197-6485210, 6485217-6485220, 6485258-6485261, 6485284-6485295, 6485301-6485303, 6485308, 6488301-6488346, 6488378-6488392, 6488426-6488432, 6500385-6500392, 6500485, 6500709-6500744, 6500765-6500798, 6500833-6500856, 6500864-6500868, 6505813-6505860, 6505888-6505920, 6505931-6505937, 6508854, 6508885, 6508922-6508928, 6509054-6509078, 6509118-6509124, 6512127-6512133 |
| 6 | PLEKHG5 | 1 | 0.99968642207589 | 1 | 3189 | 6534591 |
| 7 | KIF1B | 1 | 0.99981178242048 | 1 | 5313 | 10292465 |
| 8 | PEX14 | 1 | 0.94532627865961 | 62 | 1134 | 10659349, 10684437-10684455, 10689838-10689878, 10689903 |
| 9 | TARDBP | 1 | 0.99357429718876 | 8 | 1245 | 11080600, 11082356-11082362 |
| 10 | MASP2 | 1 | 0.81707908782145 | 377 | 2061 | 11094905, 11094908, 11097771-11097777, 11097802-11097821, 11102932-11102993, 11102999-11103049, 11103055-11103062, 11103072-11103079, 11103400-11103419, 11103444-11103562, 11103582-11103587, 11105465-11105469, 11105500-11105501, 11105530, 11105570-11105580, 11106633, 11106768-11106790, 11106948-11106952, 11106984-11106987, 11107012-11107024, 11107054-11107055, 11107070, 11107171-11107176 |
| 11 | PLOD1 | 1 | 0.99771062271062 | 5 | 2184 | 12026350-12026351, 12026370, 12030748, 12030751 |
| 12 | CLCNKA | 1 | 0.97044573643411 | 61 | 2064 | 16353238-16353244, 16354391-16354397, 16356229-16356238, 16356986-16357006, 16357121-16357127, 16358938, 16358952, 16360141-16360147 |
| 13 | CLCNKB | 1 | 0.96220930232558 | 78 | 2064 | 16375045-16375064, 16377046-16377053, 16377465, 16377509-16377510, 16377973-16377974, 16378693-16378703, 16378724-16378752, 16380252, 16380260-16380261, 16380265-16380266 |
| 14 | ATP13A2 | 1 | 0.97911374541349 | 74 | 3543 | 17312743, 17313016, 17313602-17313622, 17319011, 17322574, 17322584, 17322619, 17322622, 17322788-17322794, 17323599-17323605, 17323658, 17326619-17326637, 17326758, 17326770, 17326782, 17326786-17326789, 17326794, 17326797-17326799, 17331297 |
| 15 | HSPG2 | 1 | 0.99483910139648 | 68 | 13176 | 22186064, 22186068, 22199142-22199144, 22263648-22263710 |
| 16 | WNT4 | 1 | 0.96875 | 33 | 1056 | 22456317, 22469351-22469364, 22469373-22469375, 22469381, 22469390-22469391, 22469404-22469415 |
| 17 | LDLRAP1 | 1 | 0.99892125134844 | 1 | 927 | 25889632 |
| 18 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 19 | YARS | 1 | 0.99936988027725 | 1 | 1587 | 33251969 |
| 20 | ZMPSTE24 | 1 | 0.95868347338936 | 59 | 1428 | 40734091-40734098, 40735669, 40737586-40737603, 40737657-40737688 |
| 21 | KCNQ4 | 1 | 0.9492337164751 | 106 | 2088 | 41249779, 41249783, 41249834-41249835, 41249838, 41249846-41249891, 41249919-41249925, 41249930-41249974, 41284293-41284294, 41284297 |
| 22 | SLC2A1 | 1 | 0.99797160243408 | 3 | 1479 | 43424307-43424309 |
| 23 | EIF2B3 | 1 | 0.99852832965416 | 2 | 1359 | 45392324, 45392392 |
| 24 | UROD | 1 | 0.9945652173913 | 6 | 1104 | 45479709, 45480133-45480136, 45480184 |
| 25 | POMGNT1 | 1 | 0.99445284921836 | 11 | 1983 | 46660227-46660237 |
| 26 | ORC1 | 1 | 0.9953596287703 | 12 | 2586 | 52838944-52838945, 52841191-52841200 |
| 27 | DHCR24 | 1 | 0.9825918762089 | 27 | 1551 | 55331017, 55337108-55337109, 55337176, 55340766-55340787, 55341714 |
| 28 | PCSK9 | 1 | 0.996151996152 | 8 | 2079 | 55505553-55505555, 55521691, 55521699-55521702 |
| 29 | LEPR | 1 | 0.99599771297885 | 14 | 3498 | 66102401, 66102404-66102406, 66102417-66102422, 66102434-66102437 |
| 30 | RPL5 | 1 | 0.99888143176734 | 1 | 894 | 93300440 |
| 31 | ABCA4 | 1 | 0.9998534154207 | 1 | 6822 | 94471003 |
| 32 | DPYD | 1 | 0.9996751137102 | 1 | 3078 | 97915767 |
| 33 | AGL | 1 | 0.99804305283757 | 9 | 4599 | 100316624-100316631, 100340758 |
| 34 | DBT | 1 | 0.9496204278813 | 73 | 1449 | 100706330, 100706357-100706393, 100706406-100706440 |
| 35 | COL11A1 | 1 | 0.98973795125527 | 56 | 5457 | 103364252-103364272, 103364277, 103364281-103364282, 103364497-103364498, 103388892-103388895, 103435775-103435787, 103440400, 103440428-103440429, 103477981, 103480067-103480071, 103481258, 103491396-103491398 |
| 36 | GSTM1 | 1 | 0.99391171993912 | 4 | 657 | 110230839, 110230854, 110231721, 110231855 |
| 37 | VANGL1 | 1 | 0.98730158730159 | 20 | 1575 | 116226622, 116226632-116226635, 116226682-116226688, 116228031, 116228088-116228092, 116228095-116228096 |
| 38 | HSD3B2 | 1 | 0.83914209115282 | 180 | 1119 | 119962180-119962205, 119964578, 119964589-119964590, 119964720-119964733, 119964883-119964886, 119964930-119964964, 119964974-119965000, 119965016-119965022, 119965098-119965107, 119965114, 119965130-119965174, 119965217-119965224 |
| 39 | NOTCH2 | 1 | 0.99447141316073 | 41 | 7416 | 120539778-120539784, 120572609-120572610, 120611984-120612009, 120612015-120612020 |
| 40 | PRPF3 | 1 | 0.98927875243665 | 22 | 2052 | 150298226, 150307552-150307559, 150315900-150315906, 150318597, 150325435-150325438, 150325444 |
| 41 | FLG | 1 | 0.88765796816018 | 1369 | 12186 | 152276279-152276285, 152276441-152276462, 152276580-152276631, 152276671, 152276696-152276742, 152276755-152276780, 152276889, 152277052-152277087, 152277164-152277171, 152277342-152277348, 152277396, 152277551-152277591, 152277714-152277720, 152277822, 152278552-152278558, 152278665-152278692, 152278811-152278817, 152278853-152278859, 152279357-152279378, 152279612-152279618, 152279802, 152280032, 152280161-152280173, 152280231, 152280265, 152280347, 152280372, 152280468-152280474, 152280535-152280562, 152280570-152280617, 152280643-152280696, 152280861-152280903, 152281039, 152281286-152281325, 152281479, 152281523, 152281534, 152281641-152281649, 152281711, 152281755-152281774, 152281854-152281878, 152281944-152281971, 152282013-152282033, 152282108-152282128, 152282311, 152282340, 152282415-152282421, 152282485-152282492, 152282602-152282627, 152282697-152282703, 152282809-152282815, 152282996-152283026, 152283263-152283308, 152283407-152283433, 152283716-152283742, 152283798-152283804, 152283859-152283865, 152283888-152283915, 152283941-152283978, 152284043-152284049, 152284122-152284155, 152284175-152284212, 152284238, 152284302-152284308, 152284336-152284380, 152284475-152284481, 152284594-152284613, 152284782, 152284803-152284837, 152284851-152284857, 152284893, 152284929-152284964, 152284997-152285023, 152285035-152285047, 152285148-152285191, 152285450-152285483, 152285574-152285580, 152285806-152285812, 152285895, 152285903-152285904, 152286137, 152286153-152286166, 152286174, 152286873-152286880 |
| 42 | GBA | 1 | 0.99006828057107 | 16 | 1611 | 155207994-155208009 |
| 43 | PKLR | 1 | 0.99420289855072 | 10 | 1725 | 155269903-155269905, 155269991-155269996, 155269999 |
| 44 | LMNA | 1 | 0.99823633156966 | 1 | 567 | 156105048 |
| 45 | LMNA | 1 | 0.99949874686717 | 1 | 1995 | 156105048 |
| 46 | NTRK1 | 1 | 0.99707235466332 | 7 | 2391 | 156843467-156843473 |
| 47 | F5 | 1 | 0.97722846441948 | 152 | 6675 | 169510269-169510275, 169510325-169510383, 169510480-169510528, 169510647-169510653, 169511555, 169511596-169511624 |
| 48 | RNASEL | 1 | 0.99460916442049 | 12 | 2226 | 182545439-182545441, 182545495, 182555106-182555108, 182555143, 182555403, 182555693, 182555851, 182555904 |
| 49 | HMCN1 | 1 | 0.99893541518808 | 18 | 16908 | 185972876-185972881, 186014856-186014866, 186014871 |
| 50 | CFH | 1 | 0.99864718614719 | 5 | 3696 | 196684850-196684854 |
| 51 | CFHR1 | 1 | 0.86203423967774 | 137 | 993 | 196794607-196794614, 196794680, 196796031-196796038, 196796077, 196796122-196796135, 196797204, 196797238, 196797253, 196797289-196797295, 196797357, 196799630-196799657, 196799663-196799686, 196799769, 196799776, 196799795, 196799812, 196801002-196801038, 196801086 |
| 52 | CFHR5 | 1 | 0.8906432748538 | 187 | 1710 | 196963210-196963233, 196963253-196963270, 196963287-196963321, 196963352, 196963368-196963386, 196964847-196964848, 196964921-196964948, 196965278, 196967365-196967381, 196967429, 196971675-196971709, 196977617-196977620, 196977720, 196977805 |
| 53 | ASPM | 1 | 0.99990415947863 | 1 | 10434 | 197073196 |
| 54 | CACNA1S | 1 | 0.99964425471363 | 2 | 5622 | 201081374, 201081462 |
| 55 | REN | 1 | 0.999180999181 | 1 | 1221 | 204135402 |
| 56 | LAMB3 | 1 | 0.99971582836033 | 1 | 3519 | 209800895 |
| 57 | USH2A | 1 | 0.99634826061887 | 57 | 15609 | 216496816-216496826, 216496852-216496853, 216496868, 216496871, 216496899-216496911, 216496952-216496979, 216498713 |
| 58 | LBR | 1 | 0.99729437229437 | 5 | 1848 | 225607427, 225611652-225611653, 225611656-225611657 |
| 59 | ADCK3 | 1 | 0.95833333333333 | 81 | 1944 | 227152734, 227152890-227152906, 227169788-227169796, 227170595-227170630, 227170706, 227170714, 227171462-227171471, 227171800, 227171804, 227174157, 227174435-227174437 |
| 60 | GJC2 | 1 | 0.94772727272727 | 69 | 1320 | 228345715, 228345721, 228345869, 228345913-228345915, 228346010, 228346106-228346107, 228346372-228346398, 228346468-228346487, 228346600, 228346676-228346684, 228346777-228346779 |
| 61 | LYST | 1 | 0.9969314395932 | 35 | 11406 | 235840786, 235860522, 235892915, 235896808-235896821, 235896906-235896909, 235897153-235897159, 235907420, 235909709-235909711, 235909740, 235938318, 235944240 |
| 62 | EDARADD | 1 | 0.98456790123457 | 10 | 648 | 236557771, 236557774-236557782 |
| 63 | ACTN2 | 1 | 0.99962756052142 | 1 | 2685 | 236925844 |
| 64 | RYR2 | 1 | 0.99986580783682 | 2 | 14904 | 237550627, 237550630 |
| 65 | FH | 1 | 0.98956294846706 | 16 | 1533 | 241661168-241661183 |
| 66 | NLRP3 | 1 | 0.99839279974285 | 5 | 3111 | 247582268-247582271, 247608001 |
| 67 | CUBN | 10 | 0.99604488594555 | 43 | 10872 | 16979678-16979685, 16979688, 16979732-16979734, 16982140-16982149, 16982185-16982201, 17142028-17142031 |
| 68 | PTF1A | 10 | 0.98074974670719 | 19 | 987 | 23481741-23481759 |
| 69 | MASTL | 10 | 0.93932499051953 | 160 | 2637 | 27448562-27448603, 27448657-27448663, 27453993-27453995, 27454014, 27454433, 27456165-27456171, 27458989, 27459056, 27459120-27459131, 27459136-27459139, 27459419-27459449, 27459667-27459673, 27459750-27459769, 27469886-27469887, 27469931-27469936, 27469962-27469964, 27469969, 27469972, 27469978-27469981, 27469987, 27470409-27470413 |
| 70 | RET | 10 | 0.9796711509716 | 68 | 3345 | 43572707-43572764, 43598002, 43606852-43606860 |
| 71 | ERCC6 | 10 | 0.99977688531905 | 1 | 4482 | 50740876 |
| 72 | MBL2 | 10 | 0.99062918340027 | 7 | 747 | 54531232-54531238 |
| 73 | PCDH15 | 10 | 0.98403803701817 | 94 | 5889 | 55698682, 55698688, 55719549-55719581, 56106131-56106167, 56138657-56138661, 56138663-56138677, 56287636-56287637 |
| 74 | CDH23 | 10 | 0.9884645982498 | 116 | 10056 | 73464771, 73537438-73537466, 73537491-73537518, 73537522, 73537532-73537534, 73539144, 73548769-73548799, 73550117, 73550147, 73551027-73551031, 73551070-73551071, 73556917, 73569765, 73571169-73571174, 73574849-73574851, 73574854, 73574857 |
| 75 | PSAP | 10 | 0.94412698412698 | 88 | 1575 | 73577216-73577218, 73577223-73577233, 73579349, 73579500-73579511, 73579533-73579576, 73587864-73587868, 73588695, 73590901-73590905, 73590933-73590938 |
| 76 | LDB3 | 10 | 0.84981684981685 | 328 | 2184 | 88428527-88428531, 88466294-88466295, 88466305-88466314, 88466343-88466346, 88466354-88466359, 88466384, 88466387, 88466422-88466476, 88469672-88469674, 88476084-88476109, 88476127-88476287, 88476317-88476344, 88476348, 88476352, 88476435-88476438, 88476464-88476470, 88476475-88476477, 88477741, 88477744-88477747, 88477831-88477834, 88492733 |
| 77 | GLUD1 | 10 | 0.99284436493739 | 12 | 1677 | 88836362-88836368, 88854452-88854456 |
| 78 | LIPA | 10 | 0.99916666666667 | 1 | 1200 | 90988099 |
| 79 | LGI1 | 10 | 0.99223416965352 | 13 | 1674 | 95517936-95517944, 95517947-95517949, 95518525 |
| 80 | PLCE1 | 10 | 0.99840787378781 | 11 | 6909 | 96028741, 96028746, 96033417-96033424, 96039660 |
| 81 | HPS1 | 10 | 0.99762583095916 | 5 | 2106 | 100177376-100177377, 100177387, 100177956, 100178012 |
| 82 | ABCC2 | 10 | 0.9982751185856 | 8 | 4638 | 101553327, 101591803-101591809 |
| 83 | CPN1 | 10 | 0.99927378358751 | 1 | 1377 | 101802262 |
| 84 | FBXW4 | 10 | 0.99838579499596 | 2 | 1239 | 103454341, 103454369 |
| 85 | SUFU | 10 | 0.99931271477663 | 1 | 1455 | 104386968 |
| 86 | CYP17A1 | 10 | 0.99607072691552 | 6 | 1527 | 104590612, 104592947, 104593816, 104594664-104594666 |
| 87 | COL17A1 | 10 | 0.99755229194482 | 11 | 4494 | 105816897-105816899, 105816905-105816911, 105816916 |
| 88 | HABP2 | 10 | 0.99812734082397 | 1 | 534 | 115332434 |
| 89 | HABP2 | 10 | 0.98217468805704 | 30 | 1683 | 115341806-115341807, 115341846, 115341862-115341886, 115343068, 115343992 |
| 90 | ARMS2 | 10 | 0.96296296296296 | 12 | 324 | 124214494-124214505 |
| 91 | HTRA1 | 10 | 0.91198891198891 | 127 | 1443 | 124221169-124221220, 124221283-124221296, 124221324-124221325, 124221330-124221337, 124221352-124221357, 124221409-124221446, 124221473-124221478, 124221599 |
| 92 | HRAS | 11 | 0.88421052631579 | 66 | 570 | 532640-532641, 532660-532694, 532702-532705, 533479-533500, 533604, 533607, 534242 |
| 93 | TALDO1 | 11 | 0.9585798816568 | 42 | 1014 | 747482-747484, 763344-763361, 763387-763403, 763414, 763442, 763468, 763936 |
| 94 | SLC25A22 | 11 | 0.99794238683128 | 2 | 972 | 792625, 792654 |
| 95 | PNPLA2 | 11 | 0.97359735973597 | 40 | 1515 | 819722-819730, 819733-819736, 819740-819742, 819887-819905, 821823, 824859-824862 |
| 96 | CTSD | 11 | 0.89911218724778 | 125 | 1239 | 1775328, 1775331-1775333, 1775363-1775368, 1778554-1778566, 1780201, 1780207, 1780279, 1780746-1780752, 1780770, 1780777-1780785, 1780800-1780801, 1782564, 1782638, 1782688-1782698, 1785023-1785089 |
| 97 | TNNI2 | 11 | 0.95628415300546 | 24 | 549 | 1861641-1861651, 1861838-1861840, 1861843-1861845, 1862337, 1862413-1862415, 1862713-1862715 |
| 98 | TNNT3 | 11 | 0.30888030888031 | 537 | 777 | 1944120-1944121, 1944787, 1946329-1946346, 1950350-1950373, 1951041-1951058, 1954951-1954988, 1955017-1955067, 1955161-1955238, 1955562-1955675, 1955785-1955844, 1955863-1955885, 1956060-1956063, 1956087-1956135, 1958193-1958207, 1958211-1958212, 1958217, 1959668-1959697, 1959709, 1959715-1959722 |
| 99 | H19 | 11 | 0.99906629318394 | 1 | 1071 | 2018168 |
| 100 | IGF2 | 11 | 0.41490857946554 | 416 | 711 | 2154217-2154284, 2154298-2154299, 2154305-2154359, 2154377-2154379, 2154389-2154420, 2154747-2154816, 2154825-2154862, 2154871, 2156597-2156613, 2156642-2156649, 2156660-2156702, 2156725-2156745, 2156752-2156756, 2161372-2161396, 2161444-2161468, 2161508, 2161514, 2161525 |
| 101 | TH | 11 | 0.50603174603175 | 778 | 1575 | 2185463-2185472, 2185504-2185512, 2185554-2185556, 2185561, 2185569-2185571, 2185599-2185622, 2186462-2186479, 2186522, 2186538-2186541, 2186550, 2186568-2186595, 2186898-2186931, 2186949-2186974, 2187232-2187236, 2187247-2187288, 2187710-2187779, 2187863-2187868, 2187881-2187992, 2187995-2187998, 2188131-2188155, 2188172-2188200, 2188231, 2188257-2188262, 2188699-2188715, 2189102-2189150, 2189156-2189163, 2189328-2189332, 2189348, 2189359-2189364, 2189760-2189761, 2189776, 2189798-2189842, 2190948-2190988, 2191015-2191046, 2191067-2191101, 2191920-2191968, 2191976-2192000 |
| 102 | KCNQ1 | 11 | 0.91088133924175 | 181 | 2031 | 2466329-2466405, 2466434-2466469, 2466486-2466488, 2466524-2466553, 2466588-2466622 |
| 103 | CDKN1C | 11 | 0.36277602523659 | 606 | 951 | 2905234-2905248, 2905900-2905923, 2905943-2905982, 2905992-2906274, 2906289-2906423, 2906433, 2906436, 2906444-2906479, 2906487-2906550, 2906595-2906601 |
| 104 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 105 | SMPD1 | 11 | 0.99947257383966 | 1 | 1896 | 6411935 |
| 106 | SBF2 | 11 | 0.99927927927928 | 4 | 5550 | 9806682-9806683, 9806809-9806810 |
| 107 | HPS5 | 11 | 0.99970501474926 | 1 | 3390 | 18339309 |
| 108 | LDHA | 11 | 0.99499499499499 | 5 | 999 | 18418421, 18422414-18422416, 18422438 |
| 109 | PAX6 | 11 | 0.99527186761229 | 6 | 1269 | 31811482-31811487 |
| 110 | WT1 | 11 | 0.97619047619048 | 37 | 1554 | 32417803-32417838, 32449502 |
| 111 | PDHX | 11 | 0.96746347941567 | 49 | 1506 | 34982022-34982027, 34982030, 34982034, 34982037, 34991735-34991753, 34991770-34991788, 35016641-35016642 |
| 112 | ALX4 | 11 | 0.99838187702265 | 2 | 1236 | 44286612-44286613 |
| 113 | F2 | 11 | 0.99571963616907 | 8 | 1869 | 46750366-46750372, 46750998 |
| 114 | MADD | 11 | 0.99979773462783 | 1 | 4944 | 47306530 |
| 115 | MYBPC3 | 11 | 0.99921568627451 | 3 | 3825 | 47367837, 47368995, 47370073 |
| 116 | SLC39A13 | 11 | 0.9668458781362 | 37 | 1116 | 47436401-47436437 |
| 117 | RAPSN | 11 | 0.99273607748184 | 9 | 1239 | 47459549, 47460395, 47460423-47460425, 47460454, 47463239, 47463452-47463453 |
| 118 | TMEM216 | 11 | 0.94318181818182 | 15 | 264 | 61165247-61165248, 61165329-61165341 |
| 119 | SDHAF2 | 11 | 0.9940119760479 | 3 | 501 | 61213524, 61213528, 61213534 |
| 120 | BEST1 | 11 | 0.99658703071672 | 6 | 1758 | 61722627, 61722645, 61723272, 61723275, 61723279, 61730175 |
| 121 | BSCL2 | 11 | 0.95680345572354 | 60 | 1389 | 62469940-62469952, 62469972-62470011, 62470018-62470021, 62472937, 62472945-62472946 |
| 122 | SLC22A12 | 11 | 0.985559566787 | 24 | 1662 | 64367259, 64367264-64367285, 64367325 |
| 123 | PYGM | 11 | 0.99525504151839 | 12 | 2529 | 64527150-64527161 |
| 124 | MEN1 | 11 | 0.99134199134199 | 16 | 1848 | 64572614-64572621, 64573157-64573164 |
| 125 | BBS1 | 11 | 0.99607182940516 | 7 | 1782 | 66287088-66287092, 66287161, 66287169 |
| 126 | SPTBN2 | 11 | 0.99651470793252 | 25 | 7173 | 66455370-66455373, 66468650, 66468750-66468753, 66475075-66475078, 66475081, 66475246-66475250, 66475258, 66475636, 66475640, 66478158, 66483330, 66483365 |
| 127 | PC | 11 | 0.99858637263217 | 5 | 3537 | 66631339, 66638531, 66638535, 66638824, 66639527 |
| 128 | CABP4 | 11 | 0.96256038647343 | 31 | 828 | 67222960-67222961, 67223176, 67223809, 67223815-67223818, 67223898, 67225898-67225905, 67225944-67225957 |
| 129 | AIP | 11 | 0.82880161127895 | 170 | 993 | 67254480-67254482, 67256760, 67256805, 67256903-67256904, 67256910-67256912, 67257509-67257533, 67257583-67257612, 67257823, 67257827, 67257850, 67257881, 67257893, 67257918-67257928, 67258282-67258307, 67258316-67258337, 67258359-67258360, 67258363-67258395, 67258439, 67258442-67258444, 67258447, 67258451 |
| 130 | TCIRG1 | 11 | 0.99598876855195 | 10 | 2493 | 67809235, 67809285, 67811319, 67812536, 67816373, 67816574, 67816729, 67817235, 67817605, 67817622 |
| 131 | LRP5 | 11 | 0.97586633663366 | 117 | 4848 | 68080183-68080259, 68201292, 68207368, 68207371, 68207374-68207376, 68207384, 68213956-68213960, 68216455-68216461, 68216502-68216522 |
| 132 | IGHMBP2 | 11 | 0.99329309188464 | 20 | 2982 | 68671445, 68671477, 68671497, 68700906, 68701356-68701362, 68702833, 68704006-68704012, 68704346 |
| 133 | MYO7A | 11 | 0.93998194945848 | 399 | 6648 | 76885837-76885838, 76885887, 76885916-76885960, 76886418-76886426, 76888604-76888619, 76888657-76888660, 76888663, 76888670-76888671, 76890091-76890175, 76890781-76890796, 76890840-76890875, 76890898, 76890902-76890903, 76890941-76890994, 76891420-76891428, 76891503, 76891512-76891514, 76891518, 76892502, 76892543-76892556, 76892599, 76892997-76893006, 76893065-76893091, 76893133-76893147, 76893164-76893200, 76893473-76893474, 76893553, 76893585, 76894113, 76894124 |
| 134 | TYR | 11 | 0.99496855345912 | 8 | 1590 | 89018058-89018064, 89028357 |
| 135 | DYNC2H1 | 11 | 0.98609501738123 | 180 | 12945 | 102984339, 102991518-102991531, 103014072, 103014077, 103018599, 103029406-103029412, 103029429-103029433, 103029466-103029478, 103029677, 103031771, 103124019-103124030, 103124039-103124040, 103126144-103126151, 103126188-103126224, 103126879-103126884, 103126934, 103128379, 103128401-103128402, 103128410, 103128447-103128463, 103130682, 103173975, 103270428, 103270450-103270467, 103270513-103270531, 103306753-103306760 |
| 136 | RDX | 11 | 0.97831050228311 | 38 | 1752 | 110108275-110108289, 110108300-110108321, 110126058 |
| 137 | DLAT | 11 | 0.99588477366255 | 8 | 1944 | 111896977, 111910034-111910040 |
| 138 | DRD2 | 11 | 0.99624624624625 | 5 | 1332 | 113281449, 113283320-113283323 |
| 139 | FXYD2 | 11 | 0.96118721461187 | 17 | 438 | 117693281-117693285, 117693296, 117695382-117695392 |
| 140 | HMBS | 11 | 0.99539594843462 | 5 | 1086 | 118962157-118962161 |
| 141 | TECTA | 11 | 0.95328692962104 | 302 | 6465 | 120980070-120980074, 120980119, 120980145, 120980156-120980169, 120983790-120983796, 120983838-120983874, 120984262, 120984371-120984410, 120989015-120989026, 120989053-120989121, 120989134-120989140, 120989161, 120989166-120989187, 120989252, 120989268-120989276, 120989313-120989362, 120989397-120989403, 120989407-120989414, 120996290-120996292, 120999009-120999012, 120999019, 120999026, 120999029 |
| 142 | WNK1 | 12 | 0.99958036088963 | 3 | 7149 | 968505-968507 |
| 143 | CACNA1C | 12 | 0.97713763145862 | 150 | 6561 | 2675718, 2676863, 2690842-2690849, 2690853-2690854, 2693753-2693754, 2705133, 2715828, 2717690, 2774027-2774030, 2774094-2774096, 2775939-2775948, 2786312-2786314, 2788725-2788734, 2788875-2788896, 2791750-2791790, 2791813-2791820, 2794937, 2795364-2795370, 2797820-2797832, 2800343-2800353 |
| 144 | VWF | 12 | 0.98329779673063 | 141 | 8442 | 6125328-6125344, 6127532-6127538, 6127655-6127661, 6127919, 6127943, 6128064-6128105, 6131926-6131932, 6131955-6131982, 6132003-6132033 |
| 145 | SCNN1A | 12 | 0.97988111568358 | 44 | 2187 | 6463716, 6463918-6463924, 6472624-6472625, 6483765-6483798 |
| 146 | TPI1 | 12 | 0.99066666666667 | 7 | 750 | 6978066-6978072 |
| 147 | ATN1 | 12 | 0.99692135460397 | 11 | 3573 | 7045892-7045894, 7050136, 7050155, 7050158, 7050162, 7050585-7050588 |
| 148 | CDKN1B | 12 | 0.99832495812395 | 1 | 597 | 12871099 |
| 149 | GYS2 | 12 | 0.99952651515152 | 1 | 2112 | 21757468 |
| 150 | ABCC9 | 12 | 0.98301075268817 | 79 | 4650 | 21958942, 21958982-21958994, 21960378-21960400, 21962796, 21962804, 21962885-21962889, 21968753, 21968792-21968804, 21998596, 22005138-22005147, 22025559-22025566, 22025649-22025650 |
| 151 | KRAS | 12 | 0.99649122807018 | 2 | 570 | 25380257-25380258 |
| 152 | FGD4 | 12 | 0.9986962190352 | 3 | 2301 | 32754299, 32764184, 32777362 |
| 153 | DNM1L | 12 | 0.73179556761646 | 593 | 2211 | 32861114-32861145, 32863863-32863864, 32866143-32866269, 32866282-32866305, 32871582-32871583, 32871602-32871630, 32871634-32871669, 32871694-32871697, 32873618-32873625, 32873651-32873677, 32873682-32873684, 32873723-32873726, 32875363, 32875368, 32875383-32875406, 32875440-32875458, 32875484, 32875497-32875549, 32875564-32875567, 32883949, 32883960-32883983, 32884017-32884021, 32884027, 32884033-32884049, 32884055-32884058, 32884304, 32884313, 32884347-32884360, 32884444-32884445, 32884788-32884795, 32884866-32884875, 32886734-32886741, 32890803, 32890857, 32893075-32893100, 32893413-32893452, 32895562-32895563, 32895569, 32895574-32895575, 32895613-32895635 |
| 154 | PKP2 | 12 | 0.99562450278441 | 11 | 2514 | 32974396-32974398, 32975414-32975419, 32994114, 33049452 |
| 155 | LRRK2 | 12 | 0.99986814345992 | 1 | 7584 | 40745368 |
| 156 | COL2A1 | 12 | 0.99686379928315 | 14 | 4464 | 48374365-48374368, 48377513, 48393800-48393808 |
| 157 | MLL2 | 12 | 0.99458288190683 | 90 | 16614 | 49420771, 49424155, 49425136, 49425796, 49426605, 49426708-49426755, 49427254-49427265, 49431266, 49431508-49431517, 49431587-49431594, 49431859-49431863, 49433323 |
| 158 | TUBA1A | 12 | 0.95175438596491 | 22 | 456 | 49522311, 49522402-49522414, 49522445, 49522457, 49522462, 49522468, 49522578, 49522587, 49522624-49522625 |
| 159 | KRT81 | 12 | 0.95718050065876 | 65 | 1518 | 52681437, 52684021-52684050, 52685160-52685193 |
| 160 | KRT86 | 12 | 0.97056810403833 | 43 | 1461 | 52695754, 52696048, 52696893-52696933 |
| 161 | KRT6B | 12 | 0.99174041297935 | 14 | 1695 | 52843632-52843637, 52845574, 52845798-52845804 |
| 162 | KRT6C | 12 | 0.98407079646018 | 27 | 1695 | 52865295-52865300, 52867230-52867236, 52867372-52867378, 52867457-52867463 |
| 163 | KRT6A | 12 | 0.99174041297935 | 14 | 1695 | 52884732-52884737, 52886867, 52886908-52886914 |
| 164 | AAAS | 12 | 0.9945155393053 | 9 | 1641 | 53702759-53702765, 53709161-53709162 |
| 165 | CEP290 | 12 | 0.99287634408602 | 53 | 7440 | 88504995, 88513965-88513972, 88519049, 88519060-88519090, 88520093-88520099, 88522723, 88534734-88534737 |
| 166 | HAL | 12 | 0.99544072948328 | 9 | 1974 | 96368029-96368035, 96370431, 96377733 |
| 167 | TMPO | 12 | 0.99280575539568 | 15 | 2085 | 98925528, 98926615-98926628 |
| 168 | SYCP3 | 12 | 0.9985935302391 | 1 | 711 | 102127397 |
| 169 | GNPTAB | 12 | 0.99390082206311 | 23 | 3771 | 102140952, 102142908-102142911, 102142914, 102142966-102142969, 102224364-102224376 |
| 170 | TRPV4 | 12 | 0.94151376146789 | 153 | 2616 | 110221454-110221503, 110222210, 110230172-110230179, 110230494, 110230592, 110230595-110230596, 110234461, 110234464, 110236563, 110236574-110236578, 110238499-110238502, 110246135-110246146, 110246166-110246207, 110246224-110246233, 110246261-110246273, 110252235 |
| 171 | ATP2A2 | 12 | 0.99968040907638 | 1 | 3129 | 110783887 |
| 172 | ATXN2 | 12 | 0.95154743784881 | 191 | 3942 | 111908413, 111908440, 111926552, 112036616, 112036646-112036725, 112036740-112036767, 112036797-112036800, 112036940, 112036950, 112036957-112036963, 112036973-112036989, 112036995-112037002, 112037013-112037014, 112037018, 112037038-112037061, 112037067-112037070, 112037104-112037107, 112037268, 112037273-112037276, 112037282 |
| 173 | TBX3 | 12 | 0.99596774193548 | 9 | 2232 | 115109908-115109916 |
| 174 | HNF1A | 12 | 0.99841772151899 | 3 | 1896 | 121434350, 121434356-121434357 |
| 175 | HPD | 12 | 0.95093062605753 | 58 | 1182 | 122286912, 122286916-122286920, 122286935-122286948, 122287640-122287650, 122287671, 122287676, 122287694-122287696, 122292609-122292613, 122292686-122292696, 122294301, 122294304-122294305, 122294308, 122294529, 122295265 |
| 176 | PUS1 | 12 | 0.99922118380062 | 1 | 1284 | 132426321 |
| 177 | BRCA2 | 13 | 0.97962367163888 | 209 | 10257 | 32893214-32893235, 32893253-32893260, 32893299-32893340, 32893424-32893461, 32900238-32900239, 32900636-32900639, 32900728-32900733, 32903621-32903625, 32903628-32903629, 32906492-32906494, 32907059, 32910614, 32910718, 32910721-32910722, 32910807-32910813, 32910916, 32911059-32911068, 32911144, 32911232-32911261, 32911335-32911342, 32911593-32911594, 32912106, 32912487, 32913392, 32913465-32913471, 32914886, 32920976, 32920998 |
| 178 | FREM2 | 13 | 0.99968454258675 | 3 | 9510 | 39261568-39261570 |
| 179 | RB1 | 13 | 0.97775385719412 | 62 | 2787 | 48934153-48934157, 48934210-48934211, 49027153, 49027237, 49027245, 49037953, 49039174-49039186, 49039225-49039238, 49039365, 49039369-49039390, 49039418 |
| 180 | RNASEH2B | 13 | 0.98935037273695 | 10 | 939 | 51509123-51509132 |
| 181 | ATP7B | 13 | 0.9974988631196 | 11 | 4398 | 52518289-52518296, 52523871-52523873 |
| 182 | EDNRB | 13 | 0.96463506395786 | 47 | 1329 | 78474727-78474771, 78477685, 78492428 |
| 183 | ZIC2 | 13 | 0.95559724828018 | 71 | 1599 | 100634404, 100634609, 100635008-100635010, 100637685-100637691, 100637729, 100637754-100637755, 100637761, 100637834-100637865, 100637914-100637936 |
| 184 | PCCA | 13 | 0.98079561042524 | 42 | 2187 | 101101512-101101537, 101101544-101101559 |
| 185 | ERCC5 | 13 | 0.9997640953055 | 1 | 4239 | 103518149 |
| 186 | COL4A1 | 13 | 0.99880239520958 | 6 | 5010 | 110850842, 110853805-110853809 |
| 187 | F7 | 13 | 0.27640449438202 | 966 | 1335 | 113760156-113760177, 113760198-113760219, 113765004-113765013, 113765026-113765164, 113768066-113768068, 113768161-113768162, 113768182-113768208, 113768252-113768274, 113769974-113769993, 113770013, 113770019-113770099, 113770114, 113771080-113771084, 113771125-113771127, 113771165-113771189, 113771787-113771810, 113771848-113771884, 113772727-113772733, 113772740-113772916, 113772926-113772954, 113772960-113773002, 113773012-113773062, 113773087-113773220, 113773234-113773285, 113773295-113773322 |
| 188 | F10 | 13 | 0.79550102249489 | 300 | 1467 | 113777177-113777228, 113798193-113798199, 113798241, 113798249, 113798260-113798278, 113798323-113798331, 113798334-113798335, 113798339, 113798342, 113798364-113798401, 113801693-113801697, 113801746-113801758, 113801778-113801810, 113803230-113803234, 113803268-113803279, 113803419-113803452, 113803567-113803614, 113803688-113803706 |
| 189 | GRK1 | 13 | 0.92789598108747 | 122 | 1692 | 114321723, 114321753-114321760, 114321813-114321814, 114321821-114321823, 114322119-114322127, 114322130-114322139, 114322231-114322234, 114322237-114322238, 114325814-114325846, 114325878-114325894, 114325940-114325965, 114426049, 114426072, 114426075-114426077, 114426121, 114435873 |
| 190 | TEP1 | 14 | 0.99987316083206 | 1 | 7884 | 20854712 |
| 191 | RPGRIP1 | 14 | 0.995596995597 | 17 | 3861 | 21762936-21762942, 21795882-21795885, 21798502-21798507 |
| 192 | PABPN1 | 14 | 0.98371335504886 | 15 | 921 | 23790698-23790704, 23790707-23790711, 23790743-23790745 |
| 193 | MYH6 | 14 | 0.99948453608247 | 3 | 5820 | 23869543-23869545 |
| 194 | TGM1 | 14 | 0.99674001629992 | 8 | 2454 | 24718549, 24731369, 24731464-24731469 |
| 195 | FOXG1 | 14 | 0.8469387755102 | 225 | 1470 | 29236655, 29236667, 29236677-29236719, 29236735, 29236749-29236754, 29236759, 29236763-29236797, 29236809-29236895, 29236901-29236950 |
| 196 | FANCM | 14 | 0.99707174231332 | 18 | 6147 | 45618107, 45618187-45618193, 45623936, 45650908, 45652986, 45652997-45652998, 45654437-45654439, 45654445, 45654499 |
| 197 | C14orf104 | 14 | 0.99880668257757 | 3 | 2514 | 50100688-50100689, 50101259 |
| 198 | L2HGDH | 14 | 0.98994252873563 | 14 | 1392 | 50760848-50760861 |
| 199 | PYGL | 14 | 0.97995283018868 | 51 | 2544 | 51372168, 51372224, 51375597, 51378455, 51381453-51381499 |
| 200 | GCH1 | 14 | 0.98539176626826 | 11 | 753 | 55369204-55369214 |
| 201 | SYNE2 | 14 | 0.9997104806022 | 6 | 20724 | 64443301, 64580242, 64619345, 64619406, 64685227, 64685230 |
| 202 | ZFYVE26 | 14 | 0.99580052493438 | 32 | 7620 | 68241758, 68252594, 68252723-68252724, 68257402-68257414, 68257485, 68260891-68260900, 68274548-68274551 |
| 203 | FLVCR2 | 14 | 0.99936748893106 | 1 | 1581 | 76101268 |
| 204 | POMT2 | 14 | 0.99289835774523 | 16 | 2253 | 77786867, 77786933, 77786974-77786982, 77786987, 77786991-77786993, 77786999 |
| 205 | GALC | 14 | 0.99708454810496 | 6 | 2058 | 88407878, 88407888, 88407891-88407893, 88414211 |
| 206 | ATXN3 | 14 | 0.95948434622468 | 44 | 1086 | 92537351-92537359, 92559633-92559662, 92572873-92572877 |
| 207 | VRK1 | 14 | 0.9983207388749 | 2 | 1191 | 97304149, 97319494 |
| 208 | AMN | 14 | 0.090308370044053 | 1239 | 1362 | 103389044-103389064, 103390059-103390097, 103390105-103390137, 103390147-103390166, 103390272-103390288, 103394763-103394850, 103395095-103395312, 103395458-103395550, 103395557-103395574, 103395765-103395873, 103395992-103396056, 103396067-103396074, 103396264-103396423, 103396502-103396664, 103396743-103396783, 103396790-103396830, 103396913-103397017 |
| 209 | INF2 | 14 | 0.63706666666667 | 1361 | 3750 | 105167807, 105167874-105167891, 105167993, 105169445-105169470, 105169523-105169524, 105169645, 105169659-105169667, 105169676, 105169714-105169729, 105169753-105169790, 105170253-105170278, 105172392, 105172404-105172407, 105173265-105173271, 105173338, 105173354, 105173359-105173379, 105173624-105173736, 105173754-105173796, 105173814-105174161, 105174168-105174223, 105174261, 105174308-105174309, 105174313-105174339, 105174773-105174788, 105174804-105174811, 105174824-105174826, 105174838, 105174859, 105174896-105174910, 105175047, 105175050, 105175651, 105176008-105176013, 105176018-105176020, 105176425-105176443, 105176473-105176475, 105177274-105177285, 105177329-105177333, 105177435, 105177455-105177456, 105177464-105177523, 105177966, 105178025-105178036, 105178772-105178797, 105178822-105178858, 105178881-105178883, 105179173, 105179177-105179178, 105179194, 105179208-105179226, 105179237-105179268, 105179282-105179329, 105179544-105179569, 105179586-105179602, 105179624-105179636, 105179807-105179833, 105179887-105179896, 105179902, 105179913, 105179938-105179941, 105180540-105180557, 105180677, 105180696-105180697, 105180741, 105180754-105180756, 105180761, 105180774, 105180863-105180869, 105180889-105180902, 105180918, 105180964-105180968, 105180982-105181036, 105181097-105181099, 105181106-105181145, 105181157-105181162 |
| 210 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 211 | UBE3A | 15 | 0.99771689497717 | 6 | 2628 | 25584284-25584289 |
| 212 | TRPM1 | 15 | 0.99979218620116 | 1 | 4812 | 31320582 |
| 213 | SPRED1 | 15 | 0.99925093632959 | 1 | 1335 | 38614525 |
| 214 | CHST14 | 15 | 0.9973474801061 | 3 | 1131 | 40763527-40763529 |
| 215 | TTBK2 | 15 | 0.99946452476573 | 2 | 3735 | 43103887, 43103896 |
| 216 | SLC12A1 | 15 | 0.97666666666667 | 77 | 3300 | 48527074-48527082, 48527117-48527120, 48527134, 48527196-48527201, 48539628-48539632, 48543952, 48559788-48559792, 48559843-48559849, 48559868-48559898, 48566805-48566808, 48580361, 48580654-48580656 |
| 217 | CEP152 | 15 | 0.99979859013092 | 1 | 4965 | 49090175 |
| 218 | SPG21 | 15 | 0.99029126213592 | 9 | 927 | 65262468-65262476 |
| 219 | HCN4 | 15 | 0.99640088593577 | 13 | 3612 | 73614893, 73615005, 73615008, 73660152-73660155, 73660228-73660229, 73660403-73660406 |
| 220 | PSTPIP1 | 15 | 0.24780175859313 | 941 | 1251 | 77310489-77310535, 77310550, 77310805-77310872, 77317626-77317659, 77317842, 77320196-77320204, 77320227-77320241, 77320895-77320993, 77321880-77321909, 77322843-77322914, 77322920-77322922, 77323527-77323530, 77323533, 77323536-77323561, 77323573-77323577, 77323580-77323601, 77324639-77324675, 77324682-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 221 | RLBP1 | 15 | 0.99895178197065 | 1 | 954 | 89760359 |
| 222 | FANCI | 15 | 0.98670679709054 | 53 | 3987 | 89834844-89834861, 89835928-89835930, 89836020-89836033, 89836082-89836088, 89836201-89836205, 89837201-89837204, 89837211, 89837215 |
| 223 | POLG | 15 | 0.99086021505376 | 34 | 3720 | 89866649-89866655, 89870152, 89871916-89871922, 89872174-89872177, 89872187-89872189, 89873335-89873336, 89873345-89873348, 89876828-89876833 |
| 224 | MESP2 | 15 | 0.86934673366834 | 156 | 1194 | 90319620, 90319670-90319674, 90319763-90319769, 90319835, 90319838-90319839, 90319867-90319868, 90319871-90319873, 90319878, 90319932-90319933, 90319936-90319941, 90320052, 90320113-90320165, 90320239-90320243, 90320321-90320335, 90320396, 90320436-90320481, 90321507, 90321514-90321517 |
| 225 | BLM | 15 | 0.95839210155148 | 177 | 4254 | 91337413-91337452, 91341486, 91341490, 91341534-91341554, 91352401-91352408, 91352454-91352486, 91354536-91354538, 91354551-91354556, 91354604-91354610, 91358338-91358340, 91358446-91358479, 91358490-91358509 |
| 226 | VPS33B | 15 | 0.99460625674218 | 10 | 1854 | 91542950, 91551186-91551194 |
| 227 | IGF1R | 15 | 0.99585769980507 | 17 | 4104 | 99192879-99192886, 99192889-99192892, 99192898-99192902 |
| 228 | HBZ | 16 | 0.98368298368298 | 7 | 429 | 204060-204061, 204285-204286, 204291-204293 |
| 229 | HBA2 | 16 | 0.997668997669 | 1 | 429 | 223290 |
| 230 | GNPTG | 16 | 0.95315904139434 | 43 | 918 | 1401967-1401971, 1401986-1401988, 1401991, 1402007, 1402103-1402107, 1402156, 1402273-1402296, 1402304-1402306 |
| 231 | CLCN7 | 16 | 0.39123242349049 | 1472 | 2418 | 1496632-1496662, 1496689-1496718, 1497007-1497087, 1497393-1497569, 1497656-1497686, 1497696-1497715, 1498356-1498485, 1498682-1498712, 1498725-1498767, 1498967-1499002, 1499043-1499045, 1499048-1499094, 1499277-1499328, 1500498-1500508, 1500517-1500538, 1500563-1500593, 1500608-1500667, 1501624-1501687, 1502763-1502813, 1502827-1502842, 1502876-1502894, 1503835-1503878, 1504412-1504466, 1505135-1505144, 1505160-1505249, 1505732-1505774, 1505778-1505782, 1506138, 1506147-1506165, 1506168-1506170, 1506191-1506206, 1507262-1507264, 1507275-1507281, 1507295-1507298, 1507329-1507338, 1507697-1507704, 1507737-1507757, 1509108-1509164, 1509170-1509188, 1510456, 1511408, 1511423-1511425, 1515325, 1524864, 1524895-1524954, 1524960-1524963 |
| 232 | IGFALS | 16 | 0.99016563146998 | 19 | 1932 | 1840640, 1840947-1840948, 1840959, 1841162, 1841544-1841553, 1841576-1841578, 1842057 |
| 233 | GFER | 16 | 0.52750809061489 | 292 | 618 | 2034220-2034232, 2034240-2034370, 2034379-2034381, 2034390-2034474, 2034759, 2034770, 2034795-2034797, 2034805, 2034850-2034873, 2034887-2034912, 2035934-2035936, 2036003 |
| 234 | TSC2 | 16 | 0.38587758112094 | 3331 | 5424 | 2098623, 2098649-2098675, 2098724-2098736, 2100423, 2103347-2103349, 2103431, 2103443, 2104423, 2108784-2108798, 2110772-2110787, 2111984, 2112502-2112514, 2112590, 2112600, 2114274, 2114361-2114428, 2115524, 2115527-2115530, 2115533-2115535, 2115545, 2115548, 2115551, 2115554, 2115585, 2115594, 2115601, 2115626-2115636, 2120462-2120536, 2120559-2120564, 2120567, 2120575, 2121511-2121529, 2121541-2121542, 2121551, 2121557-2121561, 2121570-2121579, 2121790-2121801, 2121806-2121810, 2121829-2121935, 2122242-2122244, 2122253-2122297, 2122319, 2122345-2122356, 2122363-2122364, 2122861, 2122898-2122927, 2122942-2122943, 2122950, 2122975, 2124201-2124202, 2124223-2124270, 2124280-2124390, 2125800-2125809, 2125819-2125835, 2125858-2125893, 2126069-2126086, 2126098-2126129, 2126159-2126171, 2126496, 2126499-2126510, 2126516-2126523, 2126537-2126564, 2127599-2127727, 2129036-2129117, 2129136-2129197, 2129277-2129287, 2129302, 2129313-2129429, 2129558-2129670, 2130166-2130233, 2130257-2130378, 2131596-2131633, 2131636, 2131650-2131673, 2131675-2131682, 2131723-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611 |
| 235 | PKD1 | 16 | 0.0091387856257745 | 12794 | 12912 | 2139728-2139925, 2139931-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142111, 2142121-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2143832, 2143845-2143950, 2143961-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169170, 2169181-2169186, 2169308-2169379, 2185476, 2185487, 2185493, 2185503, 2185506, 2185530, 2185533-2185538, 2185554-2185572, 2185579-2185690 |
| 236 | ABCA3 | 16 | 0.99941348973607 | 3 | 5115 | 2334360, 2367752, 2369598 |
| 237 | MEFV | 16 | 0.99957374254049 | 1 | 2346 | 3306368 |
| 238 | SLX4 | 16 | 0.99509536784741 | 27 | 5505 | 3632384, 3632414-3632438, 3632539 |
| 239 | CREBBP | 16 | 0.95115295401828 | 358 | 7329 | 3777737-3777766, 3777793, 3777974, 3778294-3778320, 3778356, 3778365, 3778371-3778374, 3778443, 3778449-3778468, 3778629-3778658, 3778686, 3778789-3778792, 3778831, 3778898-3778908, 3778944-3778951, 3778970, 3778978-3778991, 3779069-3779089, 3779109-3779112, 3779118-3779137, 3779163-3779165, 3779168, 3779242-3779265, 3779304, 3779382-3779408, 3779461-3779465, 3779703-3779737, 3817738, 3819190-3819208, 3819214-3819249, 3820847-3820848, 3820857-3820859 |
| 240 | GLIS2 | 16 | 0.022857142857143 | 1539 | 1575 | 4382282-4382453, 4383348-4383468, 4383489-4383520, 4384802-4384978, 4385061-4385194, 4385276-4385303, 4385320-4385394, 4386726-4387525 |
| 241 | ALG1 | 16 | 0.87885304659498 | 169 | 1395 | 5127998-5128018, 5128778, 5128851-5128879, 5129771, 5130947-5130955, 5130986-5131005, 5131014-5131053, 5134813-5134839, 5134862-5134882 |
| 242 | ABCC6 | 16 | 0.76706560283688 | 1051 | 4512 | 16244085-16244097, 16244489, 16244496, 16244534, 16244539-16244542, 16253351-16253397, 16255295-16255322, 16255346-16255386, 16256850-16256866, 16256875-16256904, 16257007-16257049, 16259480-16259671, 16259700-16259731, 16259755-16259790, 16263503-16263568, 16263577-16263710, 16267141-16267261, 16269768-16269772, 16269808-16269843, 16271336-16271357, 16271369, 16271409, 16271416-16271425, 16271433-16271439, 16271450-16271451, 16271465-16271476, 16272732, 16272800, 16272810-16272822, 16276302, 16276376, 16276681-16276687, 16276717, 16276751, 16276784-16276787, 16278869, 16278872-16278877, 16282698-16282699, 16284167-16284168, 16284212, 16291983-16292016, 16292028-16292031, 16292034-16292035, 16295957, 16302586, 16313411-16313422, 16313789-16313795, 16315605-16315648, 16317282 |
| 243 | OTOA | 16 | 0.98801169590643 | 41 | 3420 | 21689841-21689842, 21689879-21689884, 21742188, 21747659-21747665, 21756251-21756257, 21756295-21756301, 21756347-21756357 |
| 244 | OTOA | 16 | 0.97489959839357 | 25 | 996 | 22572374-22572380, 22572418-22572424, 22572470-22572480 |
| 245 | SCNN1G | 16 | 0.99794871794872 | 4 | 1950 | 23200796, 23200856-23200858 |
| 246 | SCNN1B | 16 | 0.9984399375975 | 3 | 1923 | 23392048, 23392087-23392088 |
| 247 | COG7 | 16 | 0.96498054474708 | 81 | 2313 | 23400241-23400288, 23400316-23400320, 23403701-23403706, 23403744, 23404601-23404602, 23404618, 23404628-23404638, 23436128-23436134 |
| 248 | CLN3 | 16 | 0.99620349278664 | 5 | 1317 | 28497673-28497675, 28497718, 28500684 |
| 249 | TUFM | 16 | 0.99269005847953 | 10 | 1368 | 28855789-28855795, 28857547-28857549 |
| 250 | ATP2A1 | 16 | 0.9853626081171 | 44 | 3006 | 28895956-28895961, 28895964-28895966, 28898892-28898918, 28898942, 28900131, 28900154-28900158, 28914645 |
| 251 | PHKG2 | 16 | 0.999180999181 | 1 | 1221 | 30764758 |
| 252 | VKORC1 | 16 | 0.9979674796748 | 1 | 492 | 31104653 |
| 253 | FUS | 16 | 0.93232131562302 | 107 | 1581 | 31193721-31193724, 31193887-31193888, 31195294-31195295, 31195322-31195323, 31195670-31195717, 31196439-31196487 |
| 254 | PHKB | 16 | 0.99969530773918 | 1 | 3282 | 47733178 |
| 255 | SALL1 | 16 | 0.99622641509434 | 15 | 3975 | 51175644-51175658 |
| 256 | SLC12A3 | 16 | 0.99676689298416 | 10 | 3093 | 56912029, 56921837-56921845 |
| 257 | TK2 | 16 | 0.96536796536797 | 32 | 924 | 66583981-66584012 |
| 258 | HSD11B2 | 16 | 0.87192118226601 | 156 | 1218 | 67465152-67465306, 67465332 |
| 259 | LCAT | 16 | 0.90778533635676 | 122 | 1323 | 67973891-67973897, 67973913-67973919, 67973923, 67973939-67973940, 67973951-67973952, 67973960, 67974006-67974052, 67974060-67974064, 67974098, 67974149, 67974170, 67974212, 67974333, 67974378-67974379, 67976365, 67976381, 67976403, 67976406-67976410, 67976439-67976440, 67976620, 67976773, 67976959-67976984, 67977070-67977073, 67977078 |
| 260 | COG8 | 16 | 0.96411092985318 | 66 | 1839 | 69364744-69364747, 69364753-69364775, 69364787-69364789, 69364799-69364825, 69364860-69364862, 69364937, 69373213, 69373226-69373228, 69373265 |
| 261 | AARS | 16 | 0.93360853113175 | 193 | 2907 | 70286744, 70286751, 70288549-70288550, 70292005, 70292035, 70294973-70294975, 70294980-70294982, 70295022-70295028, 70296249-70296259, 70296277-70296313, 70296418-70296419, 70298861-70298866, 70298896, 70298929, 70299452-70299456, 70301579, 70301586-70301602, 70301619-70301631, 70301640, 70301653, 70301659-70301662, 70302182-70302193, 70303521-70303550, 70303597, 70303653-70303666, 70304142-70304147, 70304151-70304152, 70304157-70304158, 70304237-70304239, 70305699, 70305704, 70305781, 70316544 |
| 262 | GCSH | 16 | 0.93486590038314 | 34 | 522 | 81129759-81129784, 81129799-81129802, 81129819-81129822 |
| 263 | MLYCD | 16 | 0.944669365722 | 82 | 1482 | 83932787-83932788, 83932841-83932848, 83932973-83933000, 83933075-83933076, 83933084, 83933087-83933120, 83933138-83933144 |
| 264 | LRRC50 | 16 | 0.98484848484848 | 33 | 2178 | 84199528-84199534, 84203868-84203876, 84209848-84209864 |
| 265 | FOXF1 | 16 | 0.99649122807018 | 4 | 1140 | 86544211-86544213, 86544226 |
| 266 | FOXC2 | 16 | 0.98937583001328 | 16 | 1506 | 86601780-86601788, 86601920, 86602190, 86602305-86602309 |
| 267 | JPH3 | 16 | 0.99910992434357 | 2 | 2247 | 87723567, 87723837 |
| 268 | CYBA | 16 | 0.50510204081633 | 291 | 588 | 88709761-88709906, 88709926, 88709941-88709979, 88712539-88712544, 88712573, 88712577-88712596, 88713163-88713166, 88713171-88713173, 88713180, 88713185, 88713513-88713517, 88713527-88713554, 88717365-88717399, 88717411 |
| 269 | APRT | 16 | 0.65561694290976 | 187 | 543 | 88876106-88876119, 88876218-88876220, 88876478-88876484, 88876497-88876556, 88876831-88876851, 88876902-88876946, 88877964-88877967, 88877996, 88878018-88878020, 88878047-88878052, 88878228-88878236, 88878239, 88878243-88878244, 88878257-88878258, 88878261-88878265, 88878269, 88878277, 88878306-88878307 |
| 270 | GALNS | 16 | 0.78903760356915 | 331 | 1569 | 88880850, 88880856-88880857, 88884426-88884428, 88884449, 88884454, 88884457, 88884469-88884475, 88884492-88884512, 88889016-88889030, 88889050-88889118, 88891192, 88891241, 88891273, 88893146-88893148, 88893183-88893230, 88898406, 88901737, 88901744-88901745, 88902188, 88904047, 88904161, 88904165, 88907400-88907405, 88907408-88907449, 88908339, 88908345, 88909195-88909237, 88923178-88923207, 88923256-88923263, 88923269-88923285 |
| 271 | SPG7 | 16 | 0.98953098827471 | 25 | 2388 | 89623461-89623485 |
| 272 | FANCA | 16 | 0.98649267399267 | 59 | 4368 | 89806447-89806454, 89877160, 89877345-89877352, 89877393, 89882947-89882987 |
| 273 | TUBB3 | 16 | 0.98891352549889 | 15 | 1353 | 89989810, 89989813, 89989852-89989857, 89989862-89989866, 90001887, 90001898 |
| 274 | PAFAH1B1 | 17 | 0.99513381995134 | 6 | 1233 | 2570425, 2577463-2577466, 2577472 |
| 275 | CTNS | 17 | 0.81463009143807 | 223 | 1203 | 3550772, 3552145-3552152, 3552167, 3552216, 3552222-3552225, 3559781-3559858, 3559877-3559880, 3559970-3560032, 3560039-3560089, 3561342, 3561354, 3563152-3563159, 3563257, 3563963 |
| 276 | CHRNE | 17 | 0.99865047233468 | 2 | 1482 | 4804426, 4804474 |
| 277 | PITPNM3 | 17 | 0.9391452991453 | 178 | 2925 | 6358658-6358662, 6358667-6358668, 6358670, 6358674-6358682, 6358700-6358716, 6358724-6358726, 6358728-6358730, 6358738, 6358743-6358762, 6358787-6358799, 6358829-6358846, 6358958-6358963, 6373704, 6376051, 6376055-6376056, 6376069, 6377809-6377818, 6377877-6377878, 6377881, 6377905-6377924, 6381322-6381324, 6381327-6381329, 6381868-6381869, 6381878, 6381884-6381885, 6381891, 6381973, 6382014-6382020, 6459705-6459726 |
| 278 | ACADVL | 17 | 0.95325203252033 | 92 | 1968 | 7123356, 7123364, 7123441-7123473, 7123926-7123932, 7125541-7125587, 7126057, 7126550, 7127696 |
| 279 | TP53 | 17 | 0.98730964467005 | 15 | 1182 | 7573935, 7576867-7576880 |
| 280 | HES7 | 17 | 0.99557522123894 | 3 | 678 | 8025010-8025012 |
| 281 | MYH2 | 17 | 0.99879848952969 | 7 | 5826 | 10424694, 10430067, 10442570-10442571, 10446259, 10446425, 10446428 |
| 282 | ELAC2 | 17 | 0.95969367190649 | 100 | 2481 | 12897743-12897758, 12898081, 12898146-12898163, 12898295, 12898334-12898336, 12899878, 12899887-12899902, 12899911, 12899963, 12899973-12899982, 12899989-12900002, 12901819-12901825, 12905763-12905765, 12905855-12905856, 12905883, 12906806-12906810 |
| 283 | FLCN | 17 | 0.98793103448276 | 21 | 1740 | 17127269, 17127291-17127294, 17127330, 17127336, 17129566, 17129569-17129579, 17131231-17131232 |
| 284 | RAI1 | 17 | 0.99790246460409 | 12 | 5721 | 17697094-17697096, 17697099-17697102, 17699836-17699839, 17707105 |
| 285 | MYO15A | 17 | 0.9708297932597 | 309 | 10593 | 18023636-18023641, 18023646-18023650, 18023870-18023905, 18023928-18023937, 18024013, 18024018-18024038, 18024103-18024107, 18024157, 18024201-18024246, 18024266, 18024270-18024285, 18024328-18024338, 18024392-18024416, 18024466-18024470, 18024494, 18024497-18024503, 18024558-18024565, 18024583-18024593, 18024608, 18024689, 18024843-18024880, 18024888, 18025326, 18043973, 18043976, 18044391-18044392, 18044968-18044977, 18045393-18045401, 18046080-18046093, 18047110, 18047860, 18052811, 18057103, 18057107, 18057125, 18061103-18061104, 18070934-18070937, 18070949, 18070971 |
| 286 | UNC119 | 17 | 0.93775933609959 | 45 | 723 | 26879376-26879389, 26879393-26879397, 26879501-26879517, 26879553-26879555, 26879559-26879564 |
| 287 | NEK8 | 17 | 0.99134199134199 | 18 | 2079 | 27064485, 27067911, 27067964-27067967, 27068530-27068541 |
| 288 | SLC6A4 | 17 | 0.99207606973059 | 15 | 1893 | 28543179-28543193 |
| 289 | NF1 | 17 | 0.99823943661972 | 15 | 8520 | 29422373-29422387 |
| 290 | KRT10 | 17 | 0.99145299145299 | 15 | 1755 | 38975308-38975319, 38975327-38975329 |
| 291 | KRT9 | 17 | 0.99946581196581 | 1 | 1872 | 39728203 |
| 292 | KRT14 | 17 | 0.80338266384778 | 279 | 1419 | 39738752, 39738760, 39739346-39739357, 39739509-39739558, 39739596-39739627, 39739642-39739663, 39739859-39739866, 39740066, 39740081-39740082, 39741307, 39742570-39742583, 39742627-39742648, 39742682, 39742707, 39742714, 39742757-39742763, 39742787, 39742829-39742872, 39742886, 39742894, 39742897-39742899, 39742916-39742923, 39742928-39742933, 39742943, 39742948, 39742970, 39742988, 39742998, 39743025-39743049, 39743078-39743086 |
| 293 | KRT16 | 17 | 0.5379746835443 | 657 | 1422 | 39766187-39766225, 39766239-39766246, 39766262-39766281, 39766583-39766597, 39766605-39766633, 39766670, 39766761-39766767, 39767106-39767165, 39767193-39767216, 39767225-39767231, 39767321-39767345, 39767356-39767393, 39767423-39767470, 39767642-39767648, 39767681-39767688, 39767738-39767753, 39767905-39767912, 39768410-39768418, 39768447-39768453, 39768469-39768497, 39768564-39768577, 39768623-39768664, 39768682-39768727, 39768740-39768800, 39768816-39768863, 39768876-39768908, 39768933-39768940 |
| 294 | KRT17 | 17 | 0.52963818321786 | 611 | 1299 | 39775859-39775865, 39775888-39775932, 39776788-39776790, 39776911-39776919, 39776938, 39776949, 39776965-39777027, 39777034-39777057, 39777077-39777097, 39777265, 39777278, 39777323-39777343, 39777895-39777928, 39777937-39777957, 39777974-39778006, 39778655-39778661, 39778705-39778749, 39779202-39779232, 39779283-39779284, 39780330-39780357, 39780391-39780440, 39780465-39780471, 39780513-39780584, 39780608-39780641, 39780663-39780711, 39780761 |
| 295 | STAT5B | 17 | 0.99153976311337 | 20 | 2364 | 40370741-40370745, 40371382-40371384, 40384117-40384128 |
| 296 | NAGLU | 17 | 0.99372759856631 | 14 | 2232 | 40688384-40688390, 40688465, 40689556-40689561 |
| 297 | WNK4 | 17 | 0.9991961414791 | 3 | 3732 | 40947096-40947098 |
| 298 | SLC4A1 | 17 | 0.96527777777778 | 95 | 2736 | 42328668-42328687, 42330533, 42330536, 42330550, 42330554, 42331874-42331880, 42331993-42332004, 42333089-42333095, 42334764-42334774, 42334908-42334912, 42335106-42335131, 42335446, 42335921-42335922 |
| 299 | GRN | 17 | 0.98035914702581 | 35 | 1782 | 42426574-42426575, 42427051, 42427836-42427838, 42427942, 42428796, 42429392, 42429569, 42429727-42429734, 42429881, 42429895, 42429915-42429916, 42430052-42430064 |
| 300 | ITGA2B | 17 | 0.88205128205128 | 368 | 3120 | 42451750-42451752, 42451804-42451813, 42451838, 42452050, 42452053, 42452124-42452128, 42452375-42452383, 42452417-42452425, 42452439, 42452444, 42452459, 42452463-42452465, 42452959-42452962, 42452984-42452989, 42453061-42453076, 42453080, 42453492-42453495, 42453705-42453706, 42453746, 42455066-42455069, 42455088-42455115, 42455833, 42456062-42456068, 42458421-42458428, 42460861-42460862, 42460888, 42460895, 42460899-42460902, 42460938-42460984, 42461029-42461051, 42461066-42461072, 42461262-42461267, 42461277-42461314, 42461453-42461463, 42461681, 42461697-42461704, 42461721-42461722, 42461919, 42461926, 42462379-42462385, 42462532, 42462536, 42462698-42462703, 42462925-42462930, 42462932-42462946, 42462973-42462997, 42463068, 42463192-42463215, 42463272, 42466674 |
| 301 | PLEKHM1 | 17 | 0.98517817723116 | 47 | 3171 | 43545851-43545896, 43555372 |
| 302 | MAPT | 17 | 0.995280995281 | 11 | 2331 | 44055795-44055805 |
| 303 | WNT3 | 17 | 0.99625468164794 | 4 | 1068 | 44851053, 44851262-44851264 |
| 304 | PNPO | 17 | 0.98473282442748 | 12 | 786 | 46019075-46019080, 46019149-46019153, 46020720 |
| 305 | TRIM37 | 17 | 0.99481865284974 | 15 | 2895 | 57105890, 57105910, 57105915-57105925, 57119189, 57119225 |
| 306 | TBX4 | 17 | 0.9993894993895 | 1 | 1638 | 59534015 |
| 307 | ACE | 17 | 0.98673807702117 | 52 | 3921 | 61554457-61554468, 61554475-61554514 |
| 308 | GH1 | 17 | 0.98165137614679 | 12 | 654 | 61994755, 61995473, 61996127-61996136 |
| 309 | SCN4A | 17 | 0.97568499364907 | 134 | 5511 | 62019030, 62019306-62019332, 62019335, 62020297-62020301, 62025981-62025982, 62026796, 62038692, 62038760-62038769, 62041828, 62041919, 62042017-62042027, 62043463-62043466, 62043494, 62043497-62043500, 62043548, 62043595, 62043841-62043889, 62048601-62048613 |
| 310 | COG1 | 17 | 0.99762147468569 | 7 | 2943 | 71189227, 71189250, 71189458, 71192788, 71193462, 71196864, 71197990 |
| 311 | DNAI2 | 17 | 0.96534653465347 | 63 | 1818 | 72297288-72297292, 72306156-72306165, 72306195-72306220, 72306234-72306246, 72308319, 72310302-72310309 |
| 312 | USH1G | 17 | 0.9992784992785 | 1 | 1386 | 72916209 |
| 313 | SLC25A19 | 17 | 0.93561786085151 | 62 | 963 | 73269566-73269573, 73269577, 73273504, 73273510, 73273520-73273522, 73274239, 73274309-73274317, 73274403-73274416, 73279562-73279563, 73279575, 73279644-73279651, 73282405, 73282824-73282835 |
| 314 | TSEN54 | 17 | 0.94180898165718 | 92 | 1581 | 73512648, 73512653, 73512688, 73512694-73512697, 73512850-73512856, 73512905-73512943, 73512958-73512991, 73513092, 73513097-73513098, 73518203, 73519413 |
| 315 | ITGB4 | 17 | 0.89413055403182 | 579 | 5469 | 73726457, 73726460-73726461, 73726471, 73726475, 73726479, 73726970-73727017, 73727032-73727045, 73733631, 73733650, 73733654, 73736080-73736082, 73738482-73738500, 73744922-73744933, 73744956, 73744996, 73745044-73745049, 73745053, 73745062, 73745083-73745089, 73746212, 73746302, 73746762-73746764, 73746767, 73746781-73746783, 73746791-73746793, 73746843-73746845, 73746929, 73747161, 73747178-73747180, 73748345, 73748419-73748428, 73748568, 73748615-73748624, 73749860-73749872, 73749970-73749976, 73750046-73750047, 73750743, 73750856-73750859, 73750883-73750892, 73751782-73751814, 73751853, 73751871, 73751884-73751896, 73751899, 73752510-73752530, 73752565, 73752578-73752589, 73752593-73752596, 73752624-73752650, 73752785-73752793, 73752804-73752828, 73752913-73752915, 73752936, 73752939, 73753024-73753061, 73753074-73753094, 73753104-73753146, 73753152-73753188, 73753281-73753283, 73753329-73753341, 73753374-73753385, 73753521, 73753553-73753580, 73753605-73753633 |
| 316 | GALK1 | 17 | 0.83206106870229 | 198 | 1179 | 73754169-73754184, 73754193, 73754295-73754326, 73754365-73754368, 73754410-73754416, 73754424, 73754434-73754453, 73754530-73754542, 73754563-73754593, 73754612-73754654, 73758785-73758789, 73759213-73759214, 73761053-73761057, 73761164, 73761174, 73761185, 73761203-73761217 |
| 317 | UNC13D | 17 | 0.58478460128323 | 1359 | 3273 | 73824046-73824064, 73824103, 73824134, 73824144-73824147, 73824152, 73824163-73824167, 73824870-73824886, 73824928, 73824976-73824983, 73825004-73825005, 73825012-73825021, 73825024-73825027, 73825038-73825039, 73825045, 73825048, 73826109-73826120, 73826158-73826177, 73826214, 73826227-73826232, 73826462-73826494, 73826532-73826535, 73826659-73826742, 73827179-73827250, 73827335-73827355, 73827365-73827403, 73827423-73827429, 73829047-73829054, 73829100-73829103, 73830210-73830224, 73830416, 73830425-73830426, 73830438, 73830455, 73830488-73830492, 73830531, 73830544, 73830582, 73830585-73830590, 73830598, 73830612, 73830755-73830761, 73830764-73830767, 73830770-73830771, 73831029-73831032, 73831035-73831050, 73831053, 73831090-73831104, 73831119-73831133, 73831510-73831526, 73831533-73831542, 73831552-73831554, 73831586-73831607, 73831777, 73831780-73831782, 73831800, 73831805, 73831970, 73832094-73832129, 73832136-73832165, 73832281-73832312, 73832319, 73832323, 73832331-73832333, 73832337, 73832420-73832422, 73832460-73832477, 73832657-73832667, 73832670, 73832675, 73832690-73832733, 73832741-73832777, 73832901-73832905, 73832908-73832915, 73832921, 73832947-73832948, 73832952-73832956, 73832965-73832991, 73835932-73835969, 73835983-73836002, 73836102, 73836110-73836132, 73836154-73836177, 73836189-73836191, 73836306-73836316, 73836325, 73836359-73836398, 73836403, 73836592, 73836847-73836848, 73836862, 73836897-73836911, 73838515-73838550, 73838562-73838574, 73838585-73838590, 73838597-73838604, 73838669-73838670, 73838691-73838692, 73838968-73839004, 73839095-73839154, 73839240-73839269, 73839276-73839325, 73839336-73839347, 73839568-73839600, 73840302-73840331, 73840361-73840405 |
| 318 | ACOX1 | 17 | 0.99596570852244 | 8 | 1983 | 73945344, 73953568-73953574 |
| 319 | SEPT9 | 17 | 0.81090289608177 | 333 | 1761 | 75398149, 75398166, 75398239, 75398354, 75398402, 75398522-75398535, 75398605-75398609, 75398766-75398769, 75478293, 75478296-75478311, 75478314-75478319, 75483534-75483549, 75483604-75483606, 75483614-75483628, 75483634, 75484846-75484883, 75484889-75484924, 75484944-75484946, 75486878-75486908, 75489088-75489090, 75494605-75494740 |
| 320 | GAA | 17 | 0.8488982161595 | 432 | 2859 | 78082161, 78082194-78082197, 78083769, 78083780, 78085882, 78086422, 78086451-78086474, 78086815, 78086819, 78087091-78087131, 78087141-78087147, 78090772-78090794, 78090822-78090825, 78090836, 78090875-78090908, 78091409, 78091412, 78091492-78091508, 78091517-78091548, 78091997-78092012, 78092052-78092079, 78092082, 78092101-78092156, 78092459-78092485, 78092496-78092538, 78092572-78092604, 78093077-78093104, 78093127-78093130 |
| 321 | SGSH | 17 | 0.89330682571239 | 161 | 1509 | 78184341-78184343, 78184349-78184351, 78184379, 78184449, 78184459-78184466, 78184545, 78184674-78184702, 78185870-78185880, 78185910-78185922, 78185986-78185988, 78186022-78186023, 78187664-78187669, 78187976-78187978, 78188101, 78188422, 78188458-78188464, 78188498-78188539, 78188890-78188909, 78188915, 78190913, 78190960-78190962, 78190973 |
| 322 | ACTG1 | 17 | 0.97695035460993 | 26 | 1128 | 79477716-79477735, 79478305, 79478516, 79478617, 79479261, 79479266-79479267 |
| 323 | FSCN2 | 17 | 0.38404327248141 | 911 | 1479 | 79495593, 79495645-79495654, 79495660, 79495725-79495752, 79495771-79495820, 79495858-79495899, 79495915-79495991, 79496030-79496044, 79496075-79496084, 79496123-79496141, 79496150-79496184, 79496207-79496209, 79496261, 79496314-79496362, 79496373-79496376, 79496382-79496383, 79502078-79502112, 79502135-79502137, 79502140, 79502145-79502151, 79502162-79502163, 79502181-79502234, 79503172-79503225, 79503234-79503237, 79503246-79503285, 79503648-79503805, 79503901-79504106 |
| 324 | NDUFV2 | 18 | 0.996 | 3 | 750 | 9117866-9117867, 9119345 |
| 325 | AFG3L2 | 18 | 0.9891395154553 | 26 | 2394 | 12371596, 12371599-12371610, 12377007, 12377037, 12377071-12377081 |
| 326 | NPC1 | 18 | 0.99583007557988 | 16 | 3837 | 21125052, 21166267-21166269, 21166272-21166283 |
| 327 | LAMA3 | 18 | 0.99890021995601 | 11 | 10002 | 21269700-21269710 |
| 328 | FECH | 18 | 0.98914728682171 | 14 | 1290 | 55217982, 55222172-55222184 |
| 329 | LMAN1 | 18 | 0.99934768427919 | 1 | 1533 | 57000428 |
| 330 | CCBE1 | 18 | 0.97788697788698 | 27 | 1221 | 57133988-57133995, 57134050-57134053, 57134087-57134101 |
| 331 | TNFRSF11A | 18 | 0.98541329011345 | 27 | 1851 | 59992588-59992592, 59992601, 59992605-59992607, 59992619-59992636 |
| 332 | CTDP1 | 18 | 0.93243243243243 | 195 | 2886 | 77439968-77440003, 77440011-77440012, 77440015-77440050, 77440085-77440113, 77440118, 77440123-77440150, 77440162-77440209, 77440234-77440240, 77456015, 77456062-77456063, 77456067, 77457970, 77457983, 77473070, 77496483 |
| 333 | ELANE | 19 | 0.51492537313433 | 390 | 804 | 852329-852373, 852876-852906, 852911, 852915-852954, 852963-852983, 853015-853028, 853262-853370, 853391-853403, 855592-855602, 855629-855654, 855664, 855717-855733, 855736-855740, 855961-855964, 856001-856041, 856071, 856081-856082, 856090-856097 |
| 334 | KISS1R | 19 | 0.85296574770259 | 176 | 1197 | 917522-917528, 917611-917659, 918544-918598, 918649-918668, 919922, 919962-919964, 920338, 920367, 920374-920377, 920470, 920697-920724, 920735-920740 |
| 335 | STK11 | 19 | 0.33640552995392 | 864 | 1302 | 1207150, 1218416-1218418, 1218435-1218437, 1218446, 1218460, 1218474, 1218477-1218485, 1219323-1219370, 1219379-1219412, 1220374-1220504, 1220580-1220716, 1221218-1221282, 1221302-1221336, 1221948-1222005, 1222984-1223171, 1226453-1226466, 1226475, 1226506-1226601, 1226609-1226646 |
| 336 | GAMT | 19 | 0.99876543209877 | 1 | 810 | 1401440 |
| 337 | RAX2 | 19 | 0.93153153153153 | 38 | 555 | 3770695-3770701, 3770774, 3770777-3770802, 3770837, 3770857, 3771543, 3771628 |
| 338 | MAP2K2 | 19 | 0.72319201995012 | 333 | 1203 | 4090596-4090620, 4090651-4090691, 4094473, 4095408-4095447, 4097277-4097285, 4097301-4097341, 4099254-4099266, 4099273-4099274, 4099364, 4101130, 4102378, 4110524-4110546, 4110627-4110653, 4117513-4117528, 4123781-4123872 |
| 339 | C3 | 19 | 0.9989983974359 | 5 | 4992 | 6697791, 6713508-6713511 |
| 340 | INSR | 19 | 0.99734875873705 | 11 | 4149 | 7152814-7152817, 7174603-7174609 |
| 341 | MCOLN1 | 19 | 0.9890992541595 | 19 | 1743 | 7594000-7594003, 7595242-7595248, 7595309-7595315, 7598506 |
| 342 | PNPLA6 | 19 | 0.9824297188755 | 70 | 3984 | 7601117-7601119, 7601125-7601126, 7606913-7606916, 7615898-7615903, 7615916, 7615920, 7615956-7615980, 7616272-7616299 |
| 343 | STXBP2 | 19 | 0.99551066217733 | 8 | 1782 | 7702052, 7702059-7702061, 7702064-7702065, 7707169, 7709578 |
| 344 | ADAMTS10 | 19 | 0.98007246376812 | 66 | 3312 | 8654203, 8654213-8654240, 8654352-8654353, 8654441-8654469, 8669925, 8669931, 8670171-8670172, 8670228, 8670595 |
| 345 | TYK2 | 19 | 0.96240179573513 | 134 | 3564 | 10463110-10463145, 10463730, 10464209-10464234, 10464251-10464253, 10468809, 10476414, 10488894, 10488942, 10488987-10489030, 10489063-10489082 |
| 346 | DNM2 | 19 | 0.99502487562189 | 13 | 2613 | 10870414-10870424, 10923029-10923030 |
| 347 | LDLR | 19 | 0.90940766550523 | 234 | 2583 | 11200275-11200286, 11210999, 11213427, 11216100, 11216238-11216249, 11217329, 11217340, 11218181-11218183, 11221375, 11221410, 11221427-11221447, 11222190, 11222271, 11222281-11222283, 11222295, 11223957-11223963, 11224063-11224078, 11224106, 11224227-11224239, 11224287-11224326, 11226770-11226773, 11227602, 11227628, 11227635, 11230881, 11231137, 11231174, 11233921-11233923, 11233926-11233941, 11233957, 11233995-11234020, 11238701-11238720, 11240214-11240220, 11240299-11240311 |
| 348 | LDLR | 19 | 0.95438596491228 | 13 | 285 | 11240300-11240311, 11242062 |
| 349 | PRKCSH | 19 | 0.9892879647133 | 17 | 1587 | 11558341-11558346, 11558508-11558518 |
| 350 | MAN2B1 | 19 | 0.98386034255599 | 49 | 3036 | 12766524-12766525, 12768303-12768328, 12768349-12768369 |
| 351 | RNASEH2A | 19 | 0.99888888888889 | 1 | 900 | 12924157 |
| 352 | CACNA1A | 19 | 0.95213402473075 | 360 | 7521 | 13318279, 13318282, 13318291-13318293, 13318300-13318313, 13318345-13318363, 13318397, 13318413, 13318416-13318418, 13318488-13318585, 13318592-13318716, 13318730-13318741, 13318765-13318814, 13318844-13318867, 13319598, 13319608, 13319647-13319651, 13427934 |
| 353 | NOTCH3 | 19 | 0.98779787539477 | 85 | 6966 | 15302340, 15302973, 15308355-15308389, 15311615-15311639, 15311645, 15311676-15311697 |
| 354 | JAK3 | 19 | 0.9997037037037 | 1 | 3375 | 17940926 |
| 355 | SLC5A5 | 19 | 0.99792960662526 | 4 | 1932 | 17984996, 17985481-17985483 |
| 356 | IL12RB1 | 19 | 0.94469582704877 | 110 | 1989 | 18177436, 18179211, 18179315, 18180462, 18182937, 18182969, 18186560, 18186563-18186579, 18186620-18186637, 18187130-18187137, 18188391-18188412, 18197574-18197592, 18197615-18197633 |
| 357 | COMP | 19 | 0.88566402814424 | 260 | 2274 | 18893987, 18896497-18896513, 18896641, 18896654, 18896775-18896807, 18896830-18896871, 18896950, 18896956, 18898326, 18899122, 18899241, 18899401-18899416, 18899480-18899482, 18899988-18899999, 18900009-18900014, 18900023-18900037, 18900041, 18900068-18900076, 18900780-18900822, 18900862-18900879, 18900895, 18900907-18900920, 18900923, 18901659-18901679 |
| 358 | CEBPA | 19 | 0.88486536675952 | 124 | 1077 | 33792922-33792928, 33792945, 33792961-33792989, 33792992-33793030, 33793136-33793138, 33793147-33793148, 33793162, 33793171, 33793177-33793181, 33793188-33793192, 33793195-33793196, 33793201-33793208, 33793230-33793250 |
| 359 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 360 | HAMP | 19 | 0.9843137254902 | 4 | 255 | 35773495-35773498 |
| 361 | MAG | 19 | 0.94258373205742 | 108 | 1881 | 35786865-35786871, 35790469-35790493, 35790533-35790552, 35790631, 35790643, 35790691-35790695, 35790702, 35790709-35790711, 35790720-35790728, 35790735-35790752, 35791082, 35791109-35791110, 35791130-35791144 |
| 362 | PRODH2 | 19 | 0.99751707014277 | 4 | 1611 | 36303304-36303307 |
| 363 | TYROBP | 19 | 0.92920353982301 | 24 | 339 | 36398124-36398125, 36398389-36398409, 36399108 |
| 364 | SDHAF1 | 19 | 0.94540229885057 | 19 | 348 | 36486177-36486192, 36486224, 36486449, 36486502 |
| 365 | RYR1 | 19 | 0.97684725805385 | 350 | 15117 | 38931419, 38931426-38931428, 38931433-38931436, 38931442, 38931502-38931504, 38986913-38986916, 38987166-38987173, 38987528, 38987534-38987537, 39055698-39055747, 39055759-39055946, 39055971, 39055976-39055978, 39055993-39056012, 39056019, 39056023-39056024, 39056145, 39056151-39056167, 39056204-39056225, 39056276-39056291 |
| 366 | ACTN4 | 19 | 0.89985380116959 | 274 | 2736 | 39207942, 39208571-39208580, 39208714, 39214256, 39214347-39214348, 39214352-39214358, 39214620-39214624, 39214669, 39214682-39214715, 39214798-39214813, 39214830, 39214954-39214955, 39215109-39215136, 39215155, 39216373-39216387, 39219667-39219677, 39219689-39219698, 39219712-39219713, 39219723-39219725, 39219735-39219743, 39219747-39219762, 39219916-39219984, 39220044-39220072 |
| 367 | DLL3 | 19 | 0.90630048465267 | 174 | 1857 | 39989851, 39989861-39989863, 39989946-39989948, 39991268-39991272, 39993470, 39993493, 39993498-39993516, 39993564-39993573, 39993599-39993652, 39993662, 39993668-39993671, 39994755-39994760, 39994794, 39994797-39994833, 39994839-39994845, 39994884, 39994922-39994928, 39995876, 39995882, 39995957-39995963, 39996090-39996091, 39998215-39998216 |
| 368 | PRX | 19 | 0.99726402188782 | 12 | 4386 | 40909624-40909634, 40909688 |
| 369 | TGFB1 | 19 | 0.86104006820119 | 163 | 1173 | 41837005, 41838160-41838186, 41850652-41850656, 41850683-41850695, 41850723, 41850751-41850754, 41854200-41854204, 41854218-41854221, 41854245-41854334, 41858919-41858921, 41858927-41858936 |
| 370 | BCKDHA | 19 | 0.9678624813154 | 43 | 1338 | 41919966-41919983, 41925080-41925081, 41925164, 41925198-41925201, 41928227-41928229, 41928652, 41929007-41929014, 41930434-41930438, 41930470 |
| 371 | BCAM | 19 | 0.98092209856916 | 36 | 1887 | 45312412-45312414, 45312418-45312444, 45324173-45324178 |
| 372 | ERCC2 | 19 | 0.99474375821288 | 12 | 2283 | 45867160-45867166, 45867517-45867518, 45867523-45867525 |
| 373 | SIX5 | 19 | 0.97837837837838 | 48 | 2220 | 46268855-46268868, 46268981, 46269042-46269049, 46269310-46269313, 46270115, 46270146-46270157, 46271837, 46271843-46271847, 46272047, 46272050 |
| 374 | DMPK | 19 | 0.97936507936508 | 39 | 1890 | 46278289-46278292, 46281859-46281861, 46281866-46281868, 46282724-46282726, 46285524-46285536, 46285577-46285586, 46285595-46285597 |
| 375 | FKRP | 19 | 0.96706989247312 | 49 | 1488 | 47258778, 47258787, 47258797, 47258810, 47258836-47258839, 47259066-47259069, 47259076-47259083, 47259142-47259157, 47259219-47259220, 47259225, 47259408, 47259669, 47259674-47259675, 47259678, 47259986, 47260136, 47260168-47260169, 47260186 |
| 376 | DBP | 19 | 0.83333333333333 | 163 | 978 | 49138850-49138859, 49138909-49138916, 49138920-49138964, 49139043-49139065, 49139069, 49139094-49139107, 49139116-49139152, 49139177-49139185, 49140189-49140204 |
| 377 | GYS1 | 19 | 0.99954832881662 | 1 | 2214 | 49496299 |
| 378 | MED25 | 19 | 0.94830659536542 | 116 | 2244 | 50321834-50321859, 50333409, 50333768-50333786, 50335396-50335414, 50335634, 50338421-50338434, 50339486-50339514, 50339557, 50339560, 50339585-50339586, 50339594, 50339597, 50339601 |
| 379 | MYH14 | 19 | 0.92996236295205 | 428 | 6111 | 50726574-50726577, 50752263-50752270, 50753928-50753935, 50755974-50755993, 50756002-50756010, 50758497, 50758521-50758544, 50760717, 50762418, 50762510, 50763908, 50763925-50763951, 50764732-50764838, 50764857-50764860, 50764863-50764864, 50764878-50764879, 50764892, 50766569-50766606, 50766616-50766657, 50770214-50770222, 50770229-50770231, 50770238-50770240, 50770249, 50770253, 50770257-50770262, 50770265, 50780068, 50789838, 50792830, 50794214-50794259, 50795543-50795566, 50795623-50795646, 50796524-50796525, 50796539, 50796905, 50805117-50805118 |
| 380 | KCNC3 | 19 | 0.91380826737027 | 196 | 2274 | 50823577-50823578, 50826351, 50826457-50826458, 50831549, 50831981-50831984, 50831986-50831987, 50831993-50832001, 50832081-50832103, 50832188-50832339 |
| 381 | NLRP12 | 19 | 0.97645951035782 | 75 | 3186 | 54297303-54297318, 54297355-54297362, 54304514, 54304524, 54304542-54304543, 54304556-54304558, 54307319-54307325, 54312851-54312867, 54313593-54313595, 54313637-54313643, 54313647, 54313657-54313663, 54313667, 54313862 |
| 382 | PRKCG | 19 | 0.97230181470869 | 58 | 2094 | 54385905, 54392900, 54392917-54392918, 54392960-54392966, 54392973-54392989, 54393233-54393235, 54401847-54401848, 54401858-54401873, 54403939-54403941, 54409979-54409982, 54410086, 54410149 |
| 383 | PRPF31 | 19 | 0.984 | 24 | 1500 | 54621684-54621701, 54621803, 54627190, 54627879, 54632697, 54632718-54632719 |
| 384 | NLRP7 | 19 | 0.98715478484265 | 40 | 3114 | 55450717-55450749, 55451198-55451204 |
| 385 | TNNT1 | 19 | 0.91254752851711 | 69 | 789 | 55644319, 55652260-55652303, 55656928-55656933, 55657803-55657804, 55657819, 55658051-55658065 |
| 386 | TNNI3 | 19 | 0.85878489326765 | 86 | 609 | 55665400, 55665491, 55665524-55665526, 55665530, 55665554, 55665564-55665566, 55665569-55665574, 55666135-55666154, 55667571-55667590, 55667620-55667630, 55667676-55667694 |
| 387 | TPO | 2 | 0.93504639543183 | 182 | 2802 | 1488385-1488395, 1488607-1488608, 1520665-1520681, 1520703-1520719, 1544366-1544379, 1544398-1544415, 1544422-1544451, 1544466-1544495, 1546204-1546246 |
| 388 | KLF11 | 2 | 0.99285250162443 | 11 | 1539 | 10183844-10183854 |
| 389 | LPIN1 | 2 | 0.99326599326599 | 18 | 2673 | 11911788-11911805 |
| 390 | POMC | 2 | 0.99004975124378 | 8 | 804 | 25384429-25384436 |
| 391 | HADHB | 2 | 0.99789473684211 | 3 | 1425 | 26508309-26508311 |
| 392 | OTOF | 2 | 0.58258258258258 | 2502 | 5994 | 26684992-26684995, 26684999-26685002, 26687744, 26689619-26689639, 26690010, 26690022, 26693461-26693486, 26693510-26693522, 26693549-26693573, 26693996, 26694014-26694018, 26695387-26695435, 26695453-26695488, 26695493-26695496, 26695499, 26695510, 26695515-26695517, 26696016-26696072, 26696098-26696101, 26696133, 26696143-26696154, 26696274-26696435, 26696859-26696978, 26697381-26697542, 26698227, 26698237-26698265, 26698285-26698296, 26698313-26698361, 26698782-26698906, 26698996-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702252, 26702341-26702521, 26703071-26703179, 26703654-26703685, 26703695-26703696, 26703721-26703877, 26705274-26705288, 26705319-26705373, 26705393-26705460, 26706330-26706356, 26706376-26706423, 26706431-26706437, 26706485-26706487, 26706491-26706493, 26707342, 26707390-26707397, 26707448-26707454, 26707479-26707501, 26712143-26712155, 26712159, 26712558-26712583, 26712596-26712608 |
| 393 | C2orf71 | 2 | 0.99767261442979 | 9 | 3867 | 29293605, 29293813, 29293818-29293821, 29295416-29295417, 29295985 |
| 394 | SPAST | 2 | 0.97676931388439 | 43 | 1851 | 32288918, 32289075-32289084, 32289200, 32289209-32289220, 32340812-32340815, 32361699, 32361703-32361706, 32370010-32370019 |
| 395 | SOS1 | 2 | 0.99125437281359 | 35 | 4002 | 39250251, 39250258-39250260, 39251182-39251184, 39251261-39251273, 39251278, 39262365, 39281862-39281863, 39281867, 39283882-39283891 |
| 396 | ABCG5 | 2 | 0.99642126789366 | 7 | 1956 | 44040258, 44040266, 44040401, 44041635-44041636, 44041650, 44055149 |
| 397 | ABCG8 | 2 | 0.96686449060336 | 67 | 2022 | 44099128-44099152, 44099362-44099379, 44099429-44099433, 44100964-44100970, 44101600-44101606, 44102368-44102372 |
| 398 | LRPPRC | 2 | 0.99593787335723 | 17 | 4185 | 44223065-44223081 |
| 399 | SIX3 | 2 | 0.998998998999 | 1 | 999 | 45169432 |
| 400 | EPCAM | 2 | 0.95449735449735 | 43 | 945 | 47596645, 47596677, 47600660, 47601086, 47601123-47601125, 47606092-47606115, 47606182-47606193 |
| 401 | MSH2 | 2 | 0.98966131907308 | 29 | 2805 | 47707857-47707871, 47707965, 47709928, 47710074-47710085 |
| 402 | MSH6 | 2 | 0.99951016409503 | 2 | 4083 | 48010565, 48032757 |
| 403 | NRXN1 | 2 | 0.99570621468927 | 19 | 4425 | 50149339-50149341, 50170854-50170855, 50170897-50170910 |
| 404 | EFEMP1 | 2 | 0.92577597840756 | 110 | 1482 | 56103758, 56144800-56144825, 56144837-56144851, 56144907, 56144943-56144978, 56145049-56145071, 56145367-56145371, 56145400-56145402 |
| 405 | FANCL | 2 | 0.99822695035461 | 2 | 1128 | 58459189, 58459195 |
| 406 | ATP6V1B1 | 2 | 0.99935149156939 | 1 | 1542 | 71163085 |
| 407 | DYSF | 2 | 0.99245283018868 | 48 | 6360 | 71797789-71797790, 71797795, 71801328-71801330, 71801342-71801345, 71847691-71847728 |
| 408 | SPR | 2 | 0.95547073791349 | 35 | 786 | 73114610-73114641, 73114844-73114846 |
| 409 | ALMS1 | 2 | 0.99912028150992 | 11 | 12504 | 73613032-73613034, 73827996-73828002, 73828342 |
| 410 | SLC4A5 | 2 | 0.99472759226714 | 18 | 3414 | 74542076-74542087, 74542116-74542121 |
| 411 | DCTN1 | 2 | 0.99869689861871 | 5 | 3837 | 74590485-74590488, 74590496 |
| 412 | MOGS | 2 | 0.99482895783612 | 13 | 2514 | 74689009-74689016, 74692353, 74692359-74692362 |
| 413 | GGCX | 2 | 0.99385155906895 | 14 | 2277 | 85781405, 85787984, 85787993, 85788009-85788018, 85788021 |
| 414 | REEP1 | 2 | 0.98679867986799 | 8 | 606 | 86564618-86564625 |
| 415 | EIF2AK3 | 2 | 0.99731423455685 | 9 | 3351 | 88926599, 88926730-88926735, 88926748-88926749 |
| 416 | TMEM127 | 2 | 0.97629009762901 | 17 | 717 | 96930896-96930910, 96930946, 96931084 |
| 417 | ZAP70 | 2 | 0.99569892473118 | 8 | 1860 | 98340548-98340553, 98349421-98349422 |
| 418 | RANBP2 | 2 | 0.99317829457364 | 66 | 9675 | 109357110-109357116, 109374949-109374955, 109382971-109382977, 109383702-109383739, 109384523-109384529 |
| 419 | MERTK | 2 | 0.991 | 27 | 3000 | 112656321-112656346, 112686793 |
| 420 | GLI2 | 2 | 0.98970804452846 | 49 | 4761 | 121746184, 121746187, 121746190, 121746511-121746522, 121747339-121747354, 121747655-121747671, 121747737 |
| 421 | BIN1 | 2 | 0.98540965207632 | 26 | 1782 | 127806116-127806124, 127806181-127806182, 127808451-127808454, 127864450, 127864454-127864463 |
| 422 | PROC | 2 | 0.97691197691198 | 32 | 1386 | 128178948, 128180663-128180685, 128183766, 128186044-128186050 |
| 423 | CFC1 | 2 | 0.82440476190476 | 118 | 672 | 131279058-131279070, 131279619, 131279624, 131279679-131279688, 131280368-131280392, 131280428, 131280439-131280441, 131280758-131280764, 131280774-131280826, 131280836, 131280841, 131280847, 131285314 |
| 424 | NEB | 2 | 0.9994993491539 | 10 | 19974 | 152421653-152421659, 152423871, 152432764-152432765 |
| 425 | SCN2A | 2 | 0.99983383183782 | 1 | 6018 | 166245230 |
| 426 | SCN1A | 2 | 0.99883274970819 | 7 | 5997 | 166848838-166848844 |
| 427 | ABCB11 | 2 | 0.99949571356531 | 2 | 3966 | 169820741, 169851872 |
| 428 | SLC25A12 | 2 | 0.9774177712322 | 46 | 2037 | 172690481-172690496, 172690508-172690531, 172691328, 172693682, 172693689-172693692 |
| 429 | CHN1 | 2 | 0.9731884057971 | 37 | 1380 | 175689162-175689177, 175689207-175689208, 175689229-175689246, 175809623 |
| 430 | PRKRA | 2 | 0.99893842887473 | 1 | 942 | 179308044 |
| 431 | DFNB59 | 2 | 0.96033994334278 | 42 | 1059 | 179318300-179318325, 179319097, 179319134, 179325078-179325091 |
| 432 | TTN | 2 | 0.99046365014763 | 956 | 100248 | 179451915, 179451932, 179454712-179454720, 179455663, 179455900-179455905, 179456900, 179456911, 179456963-179456965, 179457147, 179457666-179457669, 179458394-179458395, 179458793, 179459132, 179459278-179459279, 179459310-179459312, 179463255-179463262, 179464016-179464017, 179467174, 179468671-179468672, 179478603-179478604, 179479017, 179494068, 179495042-179495044, 179495956-179495965, 179496971, 179497058-179497062, 179497743-179497748, 179498544, 179498754-179498760, 179499133, 179500352, 179500360, 179500761, 179500930-179500931, 179501249, 179501280, 179501390-179501444, 179502096-179502107, 179504832-179504834, 179514891, 179514902-179514910, 179577984, 179583902-179583907, 179588234-179588237, 179590136-179590138, 179590250, 179590262-179590265, 179590716-179590732, 179591909-179591922, 179592382, 179592392-179592394, 179592399-179592403, 179593101-179593105, 179595725-179595734, 179617851, 179617888-179617907, 179632786-179632791, 179633445-179633494, 179634462, 179634465-179634468, 179634497-179634522, 179634936, 179635226, 179635240-179635241, 179635245-179635247, 179635984, 179635990, 179636039-179636060, 179637903, 179638092, 179638348-179638349, 179638439-179638447, 179638677-179638679, 179639169-179639180, 179639648-179639662, 179639694-179639699, 179639710, 179640105-179640108, 179640153, 179640950, 179641596, 179641599, 179641939-179641940, 179642015-179642019, 179642147, 179642150, 179642155-179642158, 179642162, 179642192, 179642257-179642277, 179642280-179642281, 179642476, 179642509-179642543, 179642556, 179642622-179642702, 179643601, 179643621-179643639, 179643665-179643673, 179643726-179643738, 179643777-179643795, 179643956-179643958, 179644020-179644054, 179644083-179644105, 179644130-179644131, 179644134-179644137, 179644757, 179644763-179644766, 179644771-179644776, 179644813-179644814, 179644854-179644877, 179645988-179645990, 179646946, 179646949, 179646970-179646989, 179647130-179647145, 179647626-179647648, 179647650-179647653, 179647718-179647726, 179648447-179648461, 179648852, 179648858-179648868, 179648893-179648896, 179649003, 179650456-179650469, 179650596-179650620, 179650689-179650697, 179650782-179650792, 179650816, 179654171-179654177, 179656838-179656846, 179665136-179665138, 179666925 |
| 433 | CERKL | 2 | 0.97123202001251 | 46 | 1599 | 182468690-182468727, 182468754-182468761 |
| 434 | COL3A1 | 2 | 0.98227675528289 | 78 | 4401 | 189850426-189850444, 189856438, 189856928-189856930, 189859450, 189859454-189859455, 189860447, 189860851-189860872, 189861124-189861126, 189861188, 189867743, 189867752-189867755, 189871667-189871682, 189875436-189875439 |
| 435 | PMS1 | 2 | 0.98785280457306 | 34 | 2799 | 190718758, 190718996, 190719101, 190719138-190719140, 190719147, 190719155, 190719158-190719160, 190719352-190719358, 190719619, 190728735-190728748, 190738290 |
| 436 | CASP8 | 2 | 0.99690785405071 | 5 | 1617 | 202149664-202149668 |
| 437 | BMPR2 | 2 | 0.95316008982996 | 146 | 3117 | 203378445-203378483, 203378527, 203378543-203378552, 203379611-203379612, 203379643-203379653, 203379694-203379695, 203383678, 203383753-203383759, 203384812-203384839, 203384889-203384924, 203397366, 203397375-203397382 |
| 438 | NDUFS1 | 2 | 0.99450549450549 | 12 | 2184 | 206992567, 206992587-206992596, 207017167 |
| 439 | FASTKD2 | 2 | 0.99953117674637 | 1 | 2133 | 207652707 |
| 440 | CPS1 | 2 | 0.99977792582723 | 1 | 4503 | 211471548 |
| 441 | SMARCAL1 | 2 | 0.99965095986038 | 1 | 2865 | 217280094 |
| 442 | PNKD | 2 | 0.98791018998273 | 14 | 1158 | 219204547-219204553, 219204778, 219206711-219206715, 219206793 |
| 443 | DES | 2 | 0.99858457183298 | 2 | 1413 | 220283200, 220283240 |
| 444 | OBSL1 | 2 | 0.99543138288526 | 26 | 5691 | 220416292-220416293, 220435735-220435758 |
| 445 | SLC19A3 | 2 | 0.97987927565392 | 30 | 1491 | 228552978, 228563512-228563536, 228563566, 228563595-228563596, 228563963 |
| 446 | CHRND | 2 | 0.998712998713 | 2 | 1554 | 233390937, 233396335 |
| 447 | SAG | 2 | 0.9991789819376 | 1 | 1218 | 234240310 |
| 448 | COL6A3 | 2 | 0.9985315712188 | 14 | 9534 | 238244860, 238244878, 238249098, 238249101, 238249293-238249300, 238250793, 238269791 |
| 449 | AGXT | 2 | 0.65903307888041 | 402 | 1179 | 241808283-241808342, 241808375-241808437, 241808445-241808447, 241808587-241808649, 241808661-241808685, 241808707-241808747, 241808761-241808779, 241810061-241810125, 241810783-241810816, 241810845, 241810850-241810866, 241812398-241812403, 241813410, 241816976, 241816982, 241817012, 241818192 |
| 450 | D2HGDH | 2 | 0.94444444444444 | 87 | 1566 | 242689621, 242689693, 242689704-242689705, 242695428-242695429, 242707125, 242707159-242707163, 242707166, 242707169-242707171, 242707183-242707188, 242707208-242707216, 242707259-242707263, 242707289-242707339 |
| 451 | AVP | 20 | 0.77373737373737 | 112 | 495 | 3063327-3063363, 3063387-3063418, 3063623-3063656, 3063760, 3063817-3063824 |
| 452 | PANK2 | 20 | 0.99824868651489 | 3 | 1713 | 3870271-3870273 |
| 453 | JAG1 | 20 | 0.99890620727372 | 4 | 3657 | 10654163-10654166 |
| 454 | SNTA1 | 20 | 0.97430830039526 | 39 | 1518 | 32000381-32000382, 32031215-32031217, 32031325-32031332, 32031364, 32031372-32031376, 32031379-32031380, 32031383-32031394, 32031399, 32031422-32031426 |
| 455 | ADA | 20 | 0.99908424908425 | 1 | 1092 | 43255152 |
| 456 | CTSA | 20 | 0.90046760187041 | 149 | 1497 | 44520208-44520267, 44521878-44521900, 44522640-44522652, 44523645-44523693, 44523764-44523765, 44526370, 44526693 |
| 457 | DPM1 | 20 | 0.97828863346105 | 17 | 783 | 49571806-49571822 |
| 458 | SALL4 | 20 | 0.99873497786211 | 4 | 3162 | 50408346-50408349 |
| 459 | GNAS | 20 | 0.99935773924213 | 2 | 3114 | 57429061, 57429448 |
| 460 | COL9A3 | 20 | 0.95863746958637 | 85 | 2055 | 61448417-61448430, 61448460, 61448465-61448474, 61448926-61448954, 61448969, 61448980, 61448986, 61453482, 61455841-61455853, 61456351-61456357, 61457587, 61461877, 61461901, 61461905-61461907, 61468571 |
| 461 | CHRNA4 | 20 | 0.43046709129512 | 1073 | 1884 | 61978090-61978115, 61978136-61978145, 61978168-61978215, 61981005-61981018, 61981078-61981104, 61981114-61981135, 61981161-61981171, 61981201-61981222, 61981250-61981254, 61981268-61981311, 61981333, 61981342-61981351, 61981377-61981384, 61981404, 61981409, 61981462-61981499, 61981513, 61981523-61981536, 61981543-61981544, 61981560-61981578, 61981600-61981636, 61981657-61981708, 61981727-61981765, 61981848-61981850, 61981887-61981890, 61981894, 61981934-61982043, 61982084-61982091, 61982104-61982128, 61982139-61982173, 61982197-61982217, 61982233-61982249, 61982295, 61982347-61982379, 61987328-61987409, 61987429-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 462 | KCNQ2 | 20 | 0.4746086292478 | 1376 | 2619 | 62038014-62038029, 62038038-62038074, 62038096-62038130, 62038154, 62038161-62038162, 62038210-62038212, 62038215-62038216, 62038223, 62038238-62038253, 62038257, 62038271-62038338, 62038344, 62038391-62038409, 62038413, 62038431-62038467, 62038476-62038541, 62038550-62038628, 62038681, 62038691-62038728, 62039766-62039794, 62039822-62039824, 62039861-62039889, 62044816, 62046271-62046275, 62046285-62046286, 62046310-62046340, 62046475, 62059763-62059769, 62069978-62069985, 62069997-62070004, 62070008-62070013, 62070048-62070050, 62070951-62070974, 62071007, 62071018-62071061, 62073759-62073850, 62073864-62073884, 62076012-62076129, 62076142-62076187, 62076597-62076717, 62078100-62078147, 62078175-62078182, 62103521-62103816 |
| 463 | SOX18 | 20 | 0.66320346320346 | 389 | 1155 | 62679570, 62680051-62680059, 62680115, 62680121-62680122, 62680129-62680130, 62680133, 62680148, 62680159, 62680196-62680209, 62680267, 62680291-62680293, 62680301, 62680512-62680843, 62680850-62680869 |
| 464 | IFNGR2 | 21 | 0.93688362919132 | 64 | 1014 | 34775850-34775908, 34775918-34775922 |
| 465 | RCAN1 | 21 | 0.97496706192358 | 19 | 759 | 35890432, 35890465-35890480, 35987206, 35987307 |
| 466 | CLDN14 | 21 | 0.97638888888889 | 17 | 720 | 37833285-37833289, 37833816-37833827 |
| 467 | AIRE | 21 | 0.73809523809524 | 429 | 1638 | 45705906-45705907, 45705979-45705989, 45705999, 45706492-45706508, 45707016, 45707441-45707474, 45709653-45709684, 45711006-45711028, 45711073, 45712884, 45712948-45713058, 45713699-45713723, 45713729-45713753, 45713762-45713776, 45714284-45714328, 45714341-45714348, 45714362-45714367, 45714376-45714380, 45716266-45716328, 45717576, 45717579, 45717592 |
| 468 | ITGB2 | 21 | 0.97878787878788 | 49 | 2310 | 46308625-46308641, 46308651-46308653, 46308665-46308667, 46308673, 46308677-46308678, 46308715-46308716, 46308733, 46308796, 46311761, 46311896-46311902, 46326871-46326873, 46326934-46326938, 46330199, 46330272, 46330640 |
| 469 | COL18A1 | 21 | 0.49477682811016 | 2660 | 5265 | 46875459-46875481, 46875501, 46875619-46875628, 46875664, 46875717, 46875748, 46875778, 46875855-46875860, 46875946-46875947, 46876048-46876049, 46876104, 46876164, 46876173, 46876220-46876222, 46876239, 46876244-46876250, 46876308, 46876395-46876396, 46876412, 46876472, 46876502-46876509, 46876512-46876528, 46876559-46876562, 46876573-46876576, 46876580, 46876586, 46876590, 46876593, 46876604-46876690, 46876696-46876700, 46876703, 46876747-46876753, 46876792-46876795, 46888178-46888180, 46888187-46888190, 46888249-46888256, 46888300-46888349, 46888461-46888481, 46888527-46888538, 46888542, 46888641-46888648, 46888676-46888699, 46893846, 46893883-46893895, 46895393, 46896275-46896277, 46896287, 46896315-46896394, 46897353-46897358, 46897364, 46897378, 46897689, 46897757-46897775, 46898259-46898267, 46899830, 46899851-46899862, 46900011, 46900411, 46900414-46900429, 46900614-46900653, 46900696-46900698, 46900705, 46900761, 46900767-46900772, 46901877-46901896, 46906775-46906906, 46907361-46907406, 46908332-46908358, 46909400-46909435, 46910189-46910229, 46910235-46910260, 46910750-46910785, 46911139-46911220, 46911226, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929271, 46929292, 46929303-46929313, 46929316-46929318, 46929329, 46929359-46929407, 46929424-46929471, 46929507-46929513, 46929991-46930156, 46930170-46930175, 46931025-46931100, 46931111-46931140, 46932126-46932256, 46932271-46932303 |
| 470 | COL6A1 | 21 | 0.75639779721412 | 752 | 3087 | 47401765-47401845, 47401854-47401861, 47402552-47402618, 47402648-47402677, 47404183-47404261, 47404275-47404383, 47406440-47406447, 47406452-47406489, 47406522-47406556, 47406573-47406599, 47406873-47406877, 47406881, 47406900-47406947, 47407080-47407082, 47407433, 47407524-47407568, 47409043-47409051, 47409523, 47409528-47409545, 47410172-47410185, 47410292-47410336, 47410695-47410698, 47410702, 47410707, 47410736-47410739, 47410909, 47410921, 47410949-47410952, 47411924, 47411952-47411962, 47411974, 47418035-47418040, 47418852-47418873, 47419109, 47419571-47419587, 47423313, 47423316, 47423326, 47423502, 47423515 |
| 471 | COL6A2 | 21 | 0.5640522875817 | 1334 | 3060 | 47531442-47531486, 47531893-47531902, 47531917-47531923, 47531987-47532036, 47532051, 47532249-47532274, 47532406-47532407, 47533922-47533934, 47533973, 47533979-47533985, 47536299-47536317, 47536569-47536583, 47536684-47536692, 47536718-47536728, 47537314-47537321, 47537347-47537367, 47537788-47537793, 47537817-47537821, 47537825-47537828, 47537831-47537849, 47538528-47538530, 47538550-47538590, 47538960-47538977, 47539017-47539033, 47539702-47539764, 47540437, 47540444-47540455, 47540460, 47540477-47540491, 47540975-47541007, 47541013-47541034, 47541470-47541532, 47542022-47542055, 47542410-47542445, 47542798-47542851, 47544565-47544566, 47544573-47544575, 47544799-47544824, 47545180-47545213, 47545387, 47545418, 47545430-47545440, 47545471, 47545500-47545531, 47545711-47545748, 47545764, 47545768-47545771, 47545833, 47545874-47545894, 47545902-47545943, 47545954-47545972, 47545979-47546024, 47546033-47546036, 47546052-47546054, 47546062-47546074, 47546091-47546147, 47551868-47551898, 47551903-47551911, 47551932, 47551945, 47551969-47551970, 47551983-47552010, 47552034, 47552045-47552051, 47552057-47552074, 47552088-47552148, 47552169-47552173, 47552184-47552203, 47552219, 47552250-47552252, 47552263, 47552270, 47552274-47552276, 47552279-47552281, 47552294, 47552307-47552330, 47552342-47552396, 47552412, 47552422, 47552463-47552466 |
| 472 | COL6A2 | 21 | 0.55555555555556 | 152 | 342 | 47552184-47552203, 47552219, 47552250-47552252, 47552263, 47552270, 47552274-47552276, 47552279-47552281, 47552294, 47552307-47552330, 47552342-47552396, 47552412, 47552422, 47552463-47552500 |
| 473 | FTCD | 21 | 0.11869618696187 | 1433 | 1626 | 47556901-47556923, 47556929-47556940, 47556950-47556987, 47557153-47557175, 47557196, 47557207-47557209, 47557222, 47557231-47557248, 47558485-47558560, 47558794, 47558829-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570394, 47570403-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574087, 47574103-47574246, 47575384-47575405, 47575415-47575437 |
| 474 | PCNT | 21 | 0.99360703226451 | 64 | 10011 | 47767385-47767388, 47769687-47769690, 47771343-47771347, 47786607-47786612, 47786724, 47841884-47841916, 47841945, 47847536-47847544, 47851659 |
| 475 | PRODH | 22 | 0.89018302828619 | 198 | 1803 | 18901018, 18904404-18904418, 18908915, 18923528-18923595, 18923602-18923632, 18923667-18923672, 18923701-18923716, 18923727-18923766, 18923781-18923800 |
| 476 | GP1BB | 22 | 0.34943639291465 | 404 | 621 | 19711377-19711420, 19711423-19711428, 19711454-19711487, 19711493-19711496, 19711499, 19711529-19711623, 19711629-19711662, 19711682-19711685, 19711691-19711740, 19711742-19711760, 19711770-19711858, 19711869-19711882, 19711899-19711900, 19711907-19711908, 19711978-19711981, 19711986-19711987 |
| 477 | TBX1 | 22 | 0.87163978494624 | 191 | 1488 | 19748428-19748583, 19748623, 19748669-19748672, 19748676, 19748696-19748698, 19753460-19753463, 19753494, 19753519-19753525, 19753912-19753917, 19753959, 19753983-19753985, 19754072, 19754192, 19754294, 19754315 |
| 478 | SMARCB1 | 22 | 0.99050086355786 | 11 | 1158 | 24145597-24145598, 24175825-24175827, 24175831-24175836 |
| 479 | UPB1 | 22 | 0.83030303030303 | 196 | 1155 | 24906764-24906779, 24909307-24909331, 24909425-24909453, 24911299-24911338, 24917988-24917996, 24919666-24919692, 24919698, 24919710-24919741, 24921708-24921724 |
| 480 | CHEK2 | 22 | 0.96024985803521 | 70 | 1761 | 29083906-29083912, 29083948-29083965, 29085158-29085171, 29091173-29091203 |
| 481 | TCN2 | 22 | 0.99844236760125 | 2 | 1284 | 31003319, 31011610 |
| 482 | DRG1 | 22 | 0.99003623188406 | 11 | 1104 | 31796672-31796674, 31796682, 31816385-31816390, 31816395 |
| 483 | TRIOBP | 22 | 0.99196956889265 | 57 | 7098 | 38120153, 38122242, 38129407-38129419, 38130906-38130915, 38130961, 38130984, 38130996, 38131022-38131045, 38131246-38131247, 38131252, 38131259, 38136954 |
| 484 | PLA2G6 | 22 | 0 | 489 | 489 | 38508274-38508312, 38508511-38508584, 38509494-38509869 |
| 485 | PLA2G6 | 22 | 0.64147046674928 | 868 | 2421 | 38508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511688, 38512082-38512218, 38516830-38516853, 38516886-38516916, 38519102-38519151, 38519189-38519196, 38519203-38519265, 38522378-38522380, 38522455, 38524312, 38525521, 38535994-38536000 |
| 486 | EP300 | 22 | 0.99986197377502 | 1 | 7245 | 41574890 |
| 487 | TNFRSF13C | 22 | 0.56576576576577 | 241 | 555 | 42321395, 42322107-42322131, 42322155-42322187, 42322197-42322233, 42322243-42322315, 42322324-42322335, 42322642-42322649, 42322660, 42322675-42322697, 42322744-42322762, 42322769-42322777 |
| 488 | CYB5R3 | 22 | 0.98123620309051 | 17 | 906 | 43026941-43026950, 43045301-43045306, 43045320 |
| 489 | ALG12 | 22 | 0.98773006134969 | 18 | 1467 | 50303706, 50303730, 50304170, 50304174, 50307033-50307046 |
| 490 | MLC1 | 22 | 0.93650793650794 | 72 | 1134 | 50502466-50502511, 50502526, 50502601-50502608, 50502621-50502624, 50506938-50506941, 50506944-50506951, 50508956 |
| 491 | SCO2 | 22 | 0.99875156054931 | 1 | 801 | 50962828 |
| 492 | TYMP | 22 | 0.77225672877847 | 330 | 1449 | 50964202-50964219, 50964245-50964276, 50964303-50964333, 50964431, 50964446-50964476, 50964491-50964551, 50964568, 50964678-50964731, 50964827, 50964830-50964831, 50964862-50964905, 50965005-50965013, 50965031, 50965047, 50965061, 50965065, 50965088-50965093, 50965100, 50965151-50965167, 50967645-50967653, 50967683, 50967690, 50967932-50967934, 50967993, 50967998, 50968021 |
| 493 | ARSA | 22 | 0.97900262467192 | 32 | 1524 | 51063652-51063679, 51064083-51064086 |
| 494 | SHANK3 | 22 | 0.85545385202136 | 758 | 5244 | 51113070-51113132, 51113476-51113503, 51113518, 51113522, 51113526-51113535, 51113543, 51113550-51113552, 51113559, 51113594, 51113597-51113598, 51113636, 51117031, 51117101, 51117242, 51117267-51117282, 51117286-51117288, 51117307-51117311, 51117458, 51117489, 51117554-51117557, 51117569, 51117573, 51117576, 51117580, 51117590, 51117600-51117607, 51117740-51117741, 51117773-51117785, 51117839-51117840, 51117843-51117845, 51121780-51121813, 51121830-51121845, 51133330-51133339, 51133359-51133380, 51135671-51135682, 51135698, 51135705-51135719, 51135951-51136143, 51137118-51137120, 51158753-51158755, 51158785-51158790, 51158839, 51158906-51158951, 51159142-51159156, 51159159-51159174, 51159237-51159260, 51159412-51159419, 51159467, 51169216, 51169219-51169221, 51169292-51169335, 51169398-51169433, 51169438-51169451, 51169506-51169508, 51169539, 51169563-51169585, 51169601-51169616, 51169685-51169695, 51169739-51169740 |
| 495 | ITPR1 | 3 | 0.99938522070577 | 5 | 8133 | 4714985, 4774818, 4774825-4774826, 4776925 |
| 496 | FANCD2 | 3 | 0.98596014492754 | 62 | 4416 | 10085168-10085170, 10089622-10089631, 10089728, 10091084, 10103882, 10106529-10106535, 10107165-10107171, 10107587, 10107650, 10108893-10108901, 10114589, 10114615, 10115038-10115040, 10123030-10123045 |
| 497 | TSEN2 | 3 | 0.9964234620887 | 5 | 1398 | 12574176-12574179, 12574219 |
| 498 | RAF1 | 3 | 0.96558808423215 | 67 | 1947 | 12641736, 12645649, 12645742, 12647770, 12650275-12650281, 12650764-12650812, 12660125-12660131 |
| 499 | TGFBR2 | 3 | 0.98988195615514 | 18 | 1779 | 30691868-30691885 |
| 500 | CRTAP | 3 | 0.9469320066335 | 64 | 1206 | 33155779-33155826, 33155846, 33155849, 33155855-33155858, 33155861-33155863, 33155866-33155867, 33155907-33155911 |
| 501 | MLH1 | 3 | 0.9929546455306 | 16 | 2271 | 37053311, 37055981-37055995 |
| 502 | TMIE | 3 | 0.95424836601307 | 21 | 459 | 46742960, 46743014-46743033 |
| 503 | TMIE | 3 | 0.88322717622081 | 55 | 471 | 46743014-46743033, 46751070-46751104 |
| 504 | TREX1 | 3 | 0.95495495495495 | 50 | 1110 | 48508115, 48508185-48508186, 48508292, 48508327, 48508513, 48508685-48508686, 48508872-48508913 |
| 505 | COL7A1 | 3 | 0.96491228070175 | 310 | 8835 | 48602329-48602331, 48602369, 48607056-48607058, 48607567-48607571, 48607761-48607767, 48610116-48610117, 48612790, 48612794, 48612898, 48612902, 48613105, 48613703-48613729, 48613985, 48614169, 48616365, 48616828-48616837, 48617030-48617047, 48617071-48617101, 48618897, 48619037, 48619164, 48619171, 48619364-48619376, 48619784-48619789, 48619935, 48620086, 48621785, 48622188-48622202, 48622469, 48622488-48622493, 48623264, 48623285, 48623515-48623518, 48623612-48623621, 48623627-48623629, 48623656-48623659, 48624046, 48624692-48624693, 48624959, 48624963, 48625249-48625250, 48626404-48626405, 48626760-48626775, 48626816, 48626821-48626836, 48626860, 48626885-48626890, 48626893-48626898, 48627040-48627064, 48627092-48627093, 48627104-48627139, 48627147-48627151, 48627665 |
| 506 | SLC25A20 | 3 | 0.67770419426049 | 292 | 906 | 48895184, 48895940, 48895955-48895980, 48896003-48896018, 48896037-48896040, 48896537-48896546, 48896554-48896555, 48896620-48896623, 48896626-48896630, 48896991-48897060, 48899975-48900008, 48900012-48900013, 48900016, 48900028-48900047, 48900063-48900092, 48921456, 48921552-48921557, 48929448, 48929494, 48936127, 48936139-48936141, 48936147, 48936151-48936189, 48936199-48936206, 48936210-48936214 |
| 507 | LAMB2 | 3 | 0.99981471187697 | 1 | 5397 | 49162835 |
| 508 | AMT | 3 | 0.99752475247525 | 3 | 1212 | 49457720, 49457734, 49459837 |
| 509 | HYAL1 | 3 | 0.99311926605505 | 9 | 1308 | 50338500-50338508 |
| 510 | TNNC1 | 3 | 0.96913580246914 | 15 | 486 | 52485436, 52485818-52485823, 52486141-52486142, 52486523-52486528 |
| 511 | TKT | 3 | 0.9957264957265 | 8 | 1872 | 53275199-53275206 |
| 512 | HESX1 | 3 | 0.99641577060932 | 2 | 558 | 57233814, 57233946 |
| 513 | FLNB | 3 | 0.9998719426303 | 1 | 7809 | 57994437 |
| 514 | ATXN7 | 3 | 0.93375616631431 | 188 | 2838 | 63898300-63898302, 63898309-63898324, 63898369-63898371, 63898374, 63898394, 63898404-63898453, 63898468-63898486, 63898498-63898553, 63898564-63898587, 63981665-63981670, 63981897, 63982002, 63982096-63982100, 63982145, 63982150 |
| 515 | MITF | 3 | 0.99936020473448 | 1 | 1563 | 69998205 |
| 516 | ROBO2 | 3 | 0.99830795262267 | 7 | 4137 | 77147306-77147312 |
| 517 | GBE1 | 3 | 0.99193930772878 | 17 | 2109 | 81548279-81548281, 81584453-81584459, 81627172-81627178 |
| 518 | POU1F1 | 3 | 0.99685534591195 | 3 | 954 | 87313566-87313568 |
| 519 | PROS1 | 3 | 0.99753815854259 | 5 | 2031 | 93595822, 93596009-93596011, 93643105 |
| 520 | ARL13B | 3 | 0.90909090909091 | 117 | 1287 | 93755555, 93761862-93761864, 93761883, 93761921-93761947, 93761975, 93761980, 93761986, 93761993-93762013, 93762027, 93762041-93762043, 93768254, 93768257-93768275, 93768304-93768337, 93769731, 93772100-93772101 |
| 521 | ARL6 | 3 | 0.9982174688057 | 1 | 561 | 97499462 |
| 522 | IQCB1 | 3 | 0.98330550918197 | 30 | 1797 | 121500590-121500600, 121508949, 121508959-121508971, 121514331-121514335 |
| 523 | CASR | 3 | 0.99814643188137 | 6 | 3237 | 122000999-122001004 |
| 524 | UMPS | 3 | 0.999306999307 | 1 | 1443 | 124459025 |
| 525 | ACAD9 | 3 | 0.90996784565916 | 168 | 1866 | 128603496-128603507, 128603558, 128603566, 128603569, 128603572-128603579, 128615378-128615379, 128616475-128616477, 128618134-128618164, 128618205, 128618208-128618217, 128618242, 128618246, 128618280-128618286, 128620119-128620139, 128622905-128622920, 128622965-128622966, 128623260-128623304, 128627884, 128628192, 128631446, 128631449-128631450 |
| 526 | CNBP | 3 | 0.9812734082397 | 10 | 534 | 128890524-128890533 |
| 527 | NPHP3 | 3 | 0.98196844477836 | 72 | 3993 | 132438549-132438579, 132438586-132438626 |
| 528 | FOXL2 | 3 | 0.94164456233422 | 66 | 1131 | 138664872-138664900, 138665044-138665063, 138665146-138665153, 138665358-138665366 |
| 529 | HPS3 | 3 | 0.98606965174129 | 42 | 3015 | 148876568-148876605, 148877916, 148877958, 148878005, 148878016 |
| 530 | IFT80 | 3 | 0.9909793814433 | 21 | 2328 | 160025465-160025485 |
| 531 | CLCN2 | 3 | 0.99962921764924 | 1 | 2697 | 184071466 |
| 532 | OPA1 | 3 | 0.96456692913386 | 108 | 3048 | 193332687-193332710, 193335604-193335606, 193349426, 193349440, 193349444, 193349447-193349448, 193353236-193353239, 193355002-193355003, 193355006-193355037, 193355046-193355048, 193355741-193355743, 193355749, 193355755-193355756, 193355803, 193355826-193355853 |
| 533 | CPN2 | 3 | 0.996336996337 | 6 | 1638 | 194061873-194061874, 194062094-194062097 |
| 534 | PDE6B | 4 | 0.81676413255361 | 470 | 2565 | 647641-647644, 647666-647678, 647698, 647739-647761, 647779-647781, 647878-647891, 647905-647909, 647913-647936, 648649, 649730, 649742-649755, 650690-650709, 650726-650744, 650773-650802, 651140-651180, 651203-651238, 651268, 652741-652752, 652772-652781, 654256-654285, 654303-654327, 654389-654402, 656378-656379, 656398, 656889-656904, 657596-657598, 657617, 658670-658687, 659053-659057, 659069-659071, 659101, 659105, 660323-660329, 660378, 660389, 661646, 661790-661795, 663835-663896 |
| 535 | IDUA | 4 | 0.53516819571865 | 912 | 1962 | 980880-980973, 980980-980989, 980999-981020, 981611-981695, 981702-981737, 994420-994427, 994764, 994767-994771, 995297, 995504-995537, 995552, 995571-995611, 995647-995669, 995782, 995812, 995815-995818, 995873-995886, 995896-995917, 996114, 996193-996243, 996257-996262, 996267-996273, 996520-996540, 996547-996548, 996558-996567, 996573-996608, 996614-996732, 996824-996945, 997133-997147, 997167-997209, 997217-997219, 997222-997231, 997235-997251, 997364-997368, 997377, 997391-997413, 997823, 997845, 997850-997851, 997856-997866, 997893, 998113 |
| 536 | FGFR3 | 4 | 0.87597857437165 | 301 | 2427 | 1795677, 1795690-1795715, 1795755-1795760, 1795763, 1800991-1800993, 1801033-1801042, 1801056-1801086, 1801101-1801126, 1801134-1801164, 1801179, 1801190, 1801211-1801244, 1801499-1801534, 1803222, 1803241-1803242, 1803350-1803361, 1803447-1803453, 1803460-1803463, 1803688, 1803694-1803697, 1804665, 1806058, 1806061-1806062, 1806100, 1806117, 1806228, 1806641-1806661, 1807396, 1807477-1807478, 1807656, 1807880, 1807894, 1808565-1808584, 1808630, 1808633-1808637, 1808943, 1808981, 1808987 |
| 537 | SH3BP2 | 4 | 0.89068389876144 | 203 | 1857 | 2826439-2826440, 2831335, 2831377-2831398, 2831443-2831453, 2831468, 2831483, 2831488, 2831585-2831608, 2831635-2831639, 2831793-2831799, 2831814-2831817, 2831849, 2833329, 2833667-2833670, 2833690-2833691, 2833695-2833701, 2834098-2834131, 2834727-2834753, 2834766, 2834772-2834774, 2835443, 2835453-2835455, 2835482, 2835523-2835561 |
| 538 | HTT | 4 | 0.97730406193658 | 214 | 9429 | 3076583, 3076600-3076603, 3076604-3076732, 3076738-3076802, 3133092, 3201611, 3208275-3208278, 3213799-3213804, 3240550-3240552 |
| 539 | DOK7 | 4 | 0.57359735973597 | 646 | 1515 | 3465115-3465150, 3465156, 3465233-3465278, 3475222, 3475274, 3475282, 3478079-3478111, 3478138-3478269, 3491452-3491461, 3491482-3491505, 3494535-3494542, 3494572-3494648, 3494664-3494670, 3494672-3494689, 3494734, 3494737, 3494760-3494809, 3494830-3494860, 3494882-3494915, 3494999-3495004, 3495008-3495027, 3495040-3495080, 3495092, 3495125-3495154, 3495169-3495204 |
| 540 | DOK7 | 4 | 0.50423011844332 | 293 | 591 | 3494535-3494542, 3494572-3494648, 3494664-3494670, 3494672-3494689, 3494734, 3494737, 3494760-3494809, 3494830-3494860, 3494882-3494915, 3494999-3495004, 3495008-3495027, 3495040-3495079 |
| 541 | EVC | 4 | 0.99765021819402 | 7 | 2979 | 5713196-5713202 |
| 542 | WFS1 | 4 | 0.99887766554433 | 3 | 2673 | 6279262, 6279372, 6279379 |
| 543 | CC2D2A | 4 | 0.99074645280691 | 45 | 4863 | 15534816-15534827, 15534907, 15534915-15534917, 15534930-15534931, 15534941, 15542552-15542564, 15542603-15542609, 15554902-15554906, 15559125 |
| 544 | CNGA1 | 4 | 0.9969298245614 | 7 | 2280 | 47954694-47954699, 47973071 |
| 545 | PDGFRA | 4 | 0.99969418960245 | 1 | 3270 | 55138679 |
| 546 | KIT | 4 | 0.97338792221085 | 78 | 2931 | 55589854-55589855, 55592051, 55592114-55592124, 55592209-55592210, 55593611, 55594243-55594247, 55599284-55599330, 55599343-55599351 |
| 547 | GNRHR | 4 | 0.99392097264438 | 6 | 987 | 68606216, 68619748, 68619753, 68620013-68620015 |
| 548 | SLC4A4 | 4 | 0.99086757990868 | 30 | 3285 | 72306356, 72306420, 72316972-72316974, 72400074, 72400081, 72423455-72423468, 72423510-72423518 |
| 549 | COQ2 | 4 | 0.9982683982684 | 2 | 1155 | 84205892, 84205903 |
| 550 | SNCA | 4 | 0.99290780141844 | 3 | 423 | 90650401, 90650424-90650425 |
| 551 | CISD2 | 4 | 0.8921568627451 | 44 | 408 | 103808498-103808522, 103808569-103808587 |
| 552 | BBS12 | 4 | 0.99953117674637 | 1 | 2133 | 123663182 |
| 553 | MFSD8 | 4 | 0.97302504816956 | 42 | 1557 | 128841921, 128841925-128841931, 128842761, 128842874, 128843034-128843036, 128843044, 128859939, 128859990-128859993, 128861022-128861025, 128865041-128865054, 128878667, 128878744-128878747 |
| 554 | MMAA | 4 | 0.9848846459825 | 19 | 1257 | 146560430, 146560441, 146560460, 146560480-146560494, 146560702 |
| 555 | CTSO | 4 | 0.99896480331263 | 1 | 966 | 156863536 |
| 556 | GK | 4 | 0.99518652226233 | 8 | 1662 | 166199385-166199392 |
| 557 | AGA | 4 | 0.99903938520653 | 1 | 1041 | 178360828 |
| 558 | SDHA | 5 | 0.9719298245614 | 56 | 1995 | 218488-218507, 236675-236681, 251466-251491, 254599, 256472, 256509 |
| 559 | SLC6A19 | 5 | 0.70813648293963 | 556 | 1905 | 1201766-1201771, 1201777-1201967, 1208892, 1208907, 1208942-1208968, 1208972-1208973, 1208978, 1208997-1208999, 1210559-1210570, 1210589, 1210594-1210600, 1210628-1210629, 1210633-1210635, 1210646-1210649, 1210695-1210696, 1212481-1212507, 1212577, 1213578-1213629, 1213642-1213681, 1214101-1214116, 1214142-1214180, 1216673-1216674, 1216785, 1216788-1216790, 1217034, 1219620-1219664, 1219674-1219703, 1219727-1219762 |
| 560 | TERT | 5 | 0.57016769638129 | 1461 | 3399 | 1253907, 1253930, 1253940-1253941, 1254496-1254528, 1254533, 1258713-1258761, 1264519-1264530, 1264598-1264600, 1264630-1264658, 1266597-1266626, 1268692-1268695, 1271234-1271319, 1272307-1272312, 1272325, 1272335-1272338, 1272345-1272395, 1278756-1278779, 1278804-1278831, 1278891-1278911, 1279421-1279443, 1279469, 1279490, 1279493-1279550, 1279560-1279564, 1279572-1279579, 1280300-1280388, 1280414, 1280452-1280453, 1282655, 1282728, 1293434-1293442, 1293471-1293511, 1293559-1293568, 1293613, 1293617, 1293637-1293675, 1293688-1293708, 1293732-1293764, 1293884-1293931, 1293981-1293988, 1294002, 1294061-1294097, 1294157-1294167, 1294172, 1294192-1294201, 1294209-1294236, 1294244-1294337, 1294357-1294358, 1294363, 1294366-1294379, 1294385-1294386, 1294402, 1294406-1294411, 1294452-1294489, 1294524, 1294555-1294781, 1294886-1294901, 1294921-1295104 |
| 561 | SDHA | 5 | 0.95107033639144 | 16 | 327 | 1593261-1593269, 1593383-1593389 |
| 562 | NDUFS6 | 5 | 0.952 | 18 | 375 | 1801561-1801565, 1801633-1801645 |
| 563 | MTRR | 5 | 0.99908172635445 | 2 | 2178 | 7870938-7870939 |
| 564 | DNAH5 | 5 | 0.98616216216216 | 192 | 13875 | 13891106-13891109, 13891199, 13894769-13894787, 13894878-13894884, 13894894-13894896, 13894899-13894901, 13894909-13894916, 13900342-13900345, 13900374-13900375, 13900519-13900521, 13901370, 13901392-13901436, 13901458-13901460, 13901464, 13901467, 13901530, 13901615-13901630, 13901640-13901682, 13902177, 13916457-13916467, 13916494-13916502, 13916559-13916564 |
| 565 | ANKH | 5 | 0.99932386747803 | 1 | 1479 | 14751286 |
| 566 | IL7R | 5 | 0.96521739130435 | 48 | 1380 | 35861075, 35867430, 35867435, 35867449-35867450, 35867465-35867466, 35867480-35867490, 35871158-35871169, 35871216, 35873730-35873737, 35875656-35875662, 35876332-35876333 |
| 567 | NIPBL | 5 | 0.97813428401664 | 184 | 8415 | 37000498-37000500, 37007429, 37007482, 37008179, 37010282, 37014814-37014817, 37014859-37014867, 37016164-37016173, 37016196-37016204, 37016208-37016212, 37016250-37016255, 37016267-37016272, 37017121-37017137, 37019426, 37020561-37020575, 37020885-37020891, 37022181, 37022396-37022404, 37022407, 37022465-37022466, 37022476, 37022485, 37024687-37024751, 37024782, 37024786-37024790, 37024795, 37064058 |
| 568 | ITGA2 | 5 | 0.99887196841512 | 4 | 3546 | 52351911, 52353863-52353865 |
| 569 | MARVELD2 | 5 | 0.95706618962433 | 72 | 1677 | 68716190-68716212, 68728375-68728376, 68728425-68728452, 68728767-68728782, 68736316, 68736322, 68737481 |
| 570 | SMN2 | 5 | 0.99322033898305 | 6 | 885 | 69362949, 69363234-69363237, 69363254 |
| 571 | SMN2 | 5 | 0.99209039548023 | 7 | 885 | 70238373, 70238658-70238661, 70238678, 70247773 |
| 572 | MCCC2 | 5 | 0.97813238770686 | 37 | 1692 | 70892129-70892133, 70898350-70898353, 70922472, 70922485-70922488, 70922523-70922536, 70931008-70931016 |
| 573 | AP3B1 | 5 | 0.96834094368341 | 104 | 3285 | 77311238-77311241, 77311372, 77330233-77330254, 77334903-77334979 |
| 574 | ARSB | 5 | 0.98002496878901 | 32 | 1602 | 78280967-78280997, 78281052 |
| 575 | VCAN | 5 | 0.99136492984005 | 88 | 10191 | 82815293-82815296, 82815350-82815356, 82815485-82815499, 82815863, 82815866-82815867, 82815953-82815982, 82816278-82816296, 82816310-82816311, 82816375, 82817004, 82817552, 82833053-82833057 |
| 576 | GPR98 | 5 | 0.99973574335395 | 5 | 18921 | 90041510, 90144574, 90144611, 90149924-90149925 |
| 577 | WDR36 | 5 | 0.99929971988796 | 2 | 2856 | 110432797, 110432800 |
| 578 | LMNB1 | 5 | 0.9977285633163 | 4 | 1761 | 126113445-126113448 |
| 579 | FBN2 | 5 | 0.9996567112942 | 3 | 8739 | 127710385-127710387 |
| 580 | MYOT | 5 | 0.99933199732799 | 1 | 1497 | 137222993 |
| 581 | DIAPH1 | 5 | 0.98900235663786 | 42 | 3819 | 140953560-140953601 |
| 582 | PPP2R2B | 5 | 0.9984984984985 | 2 | 1332 | 146017885-146017886 |
| 583 | SH3TC2 | 5 | 0.99560382725627 | 17 | 3867 | 148384422-148384423, 148406213-148406219, 148406803-148406809, 148408266 |
| 584 | PDE6A | 5 | 0.99845141308556 | 4 | 2583 | 149264091-149264094 |
| 585 | TCOF1 | 5 | 0.98393021120294 | 70 | 4356 | 149737389-149737403, 149740721-149740729, 149740733-149740734, 149748376-149748378, 149755077-149755079, 149767593-149767594, 149771652-149771658, 149772305-149772309, 149776052-149776059, 149776105-149776109, 149776189-149776192, 149776383-149776387, 149776390-149776391 |
| 586 | IL12B | 5 | 0.99898682877406 | 1 | 987 | 158749441 |
| 587 | GABRG2 | 5 | 0.98708010335917 | 20 | 1548 | 161530923-161530925, 161530948, 161530993-161531008 |
| 588 | MSX2 | 5 | 0.99875621890547 | 1 | 804 | 174151734 |
| 589 | NSD1 | 5 | 0.99975281176616 | 2 | 8091 | 176678757-176678758 |
| 590 | F12 | 5 | 0.99656357388316 | 2 | 582 | 176830302, 176830320 |
| 591 | F12 | 5 | 0.97077922077922 | 54 | 1848 | 176830302, 176830320, 176830489, 176830508, 176830874-176830897, 176830957-176830963, 176830970, 176831005, 176831017, 176831197-176831208, 176831541, 176831606, 176831826, 176831889 |
| 592 | NHP2 | 5 | 0.98268398268398 | 8 | 462 | 177580676-177580678, 177580741-177580745 |
| 593 | GRM6 | 5 | 0.96013667425968 | 105 | 2634 | 178408668, 178408671-178408672, 178408680, 178408683-178408685, 178408691, 178408701, 178408722-178408723, 178408855, 178409921, 178410000-178410003, 178413371-178413373, 178413439, 178413460, 178413486, 178413600, 178413691, 178413694-178413695, 178416000, 178419001-178419021, 178419074-178419084, 178421587, 178421667-178421699, 178421863, 178421911-178421912, 178421916-178421921, 178421925-178421926 |
| 594 | SQSTM1 | 5 | 0.92214663643235 | 103 | 1323 | 179247937-179247938, 179247957-179247962, 179247976, 179248001-179248026, 179248038, 179248059-179248112, 179248124, 179250875-179250885, 179260725 |
| 595 | FLT4 | 5 | 0.45063538611926 | 2248 | 4092 | 180043369, 180043379, 180043388, 180043442-180043484, 180043951-180043965, 180045774-180045880, 180045886-180045920, 180046021-180046080, 180046089-180046109, 180046253-180046268, 180046303-180046304, 180046313-180046349, 180046356-180046366, 180046673-180046709, 180046729, 180046753-180046754, 180046760-180046769, 180047195, 180047202, 180047208-180047229, 180047234-180047236, 180047247-180047278, 180047299-180047308, 180047609-180047654, 180047666-180047715, 180047879-180048007, 180048118-180048121, 180048124, 180048130, 180048158, 180048163-180048165, 180048184, 180048189, 180048245-180048252, 180048542-180048562, 180048611-180048633, 180048724-180048733, 180048802-180048826, 180048880, 180049731-180049734, 180049749, 180049775-180049821, 180049830-180049839, 180050950-180050955, 180050959-180050977, 180050981-180051021, 180052869-180053031, 180053111-180053184, 180053198, 180053210-180053213, 180053234-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057312, 180057323-180057337, 180057555-180057799, 180058682-180058778, 180076522-180076533, 180076540-180076544 |
| 596 | FOXC1 | 6 | 0.86462093862816 | 225 | 1662 | 1610711-1610719, 1610722, 1610744-1610745, 1610762-1610763, 1610767, 1610771, 1610776-1610785, 1610789-1610792, 1610804-1610805, 1610880-1610883, 1610891, 1611197, 1611297-1611299, 1611318, 1611356-1611365, 1611415, 1611418-1611427, 1611462-1611465, 1611471, 1611507-1611524, 1611551-1611561, 1611599-1611606, 1611640-1611673, 1611799-1611825, 1612014-1612045, 1612136-1612162 |
| 597 | TUBB2B | 6 | 0.69581464872945 | 407 | 1338 | 3224998-3225062, 3225111-3225112, 3225208-3225228, 3225279-3225337, 3225353, 3225359, 3225362, 3225367-3225370, 3225408-3225513, 3225532-3225563, 3225586, 3225595, 3225598, 3225601, 3225628-3225630, 3225646-3225669, 3225745, 3225759, 3225776, 3225791-3225817, 3225861, 3225897-3225939, 3225949, 3225985, 3226423-3226427, 3226456, 3226813, 3227768 |
| 598 | DTNBP1 | 6 | 0.99621212121212 | 4 | 1056 | 15663068-15663071 |
| 599 | ATXN1 | 6 | 0.95996732026144 | 98 | 2448 | 16327862-16327959 |
| 600 | ALDH5A1 | 6 | 0.99028536733455 | 16 | 1647 | 24515437, 24515477-24515490, 24520734 |
| 601 | HLA-H | 6 | 0.94666666666667 | 40 | 750 | 29855849, 29855856-29855859, 29855862-29855864, 29856330, 29856347, 29856353, 29856368, 29856397, 29856406, 29856593-29856614, 29856633, 29856686, 29856693, 29856718 |
| 602 | NEU1 | 6 | 0.99679487179487 | 4 | 1248 | 31829858, 31829910-31829912 |
| 603 | CFB | 6 | 0.99815837937385 | 7 | 3801 | 31914176-31914182 |
| 604 | TNXB | 6 | 0.92586832555728 | 143 | 1929 | 31976839-31976845, 31976896-31976929, 31977054-31977070, 31977093, 31977388-31977394, 31977528, 31977630-31977633, 31977637, 31977995-31978021, 31978245-31978251, 31978307, 31978498-31978517, 31978782-31978788, 31979465, 31979479, 31980130-31980136 |
| 605 | CYP21A2 | 6 | 0.98051075268817 | 29 | 1488 | 32006317, 32006337, 32006966-32006967, 32006980, 32007846-32007868, 32008755 |
| 606 | TNXB | 6 | 0.94343624793778 | 720 | 12729 | 32009574-32009580, 32009631-32009664, 32009789-32009805, 32009825-32009831, 32010123-32010129, 32010362-32010375, 32010600-32010608, 32010729-32010755, 32010979-32010987, 32011029-32011044, 32011232-32011251, 32011636-32011669, 32011904, 32012200-32012245, 32012319, 32012333, 32012984-32012990, 32015511-32015537, 32015591, 32021355-32021365, 32023801, 32023941-32023942, 32023948, 32024363-32024364, 32024369, 32024375, 32024454, 32024460, 32024464, 32024532, 32024665, 32025850-32025853, 32025881-32025882, 32025885-32025906, 32025956-32025966, 32025969-32025971, 32026002-32026010, 32026066-32026073, 32026089, 32026107, 32026139-32026141, 32026153, 32029174-32029186, 32029205-32029230, 32029286-32029311, 32029326-32029333, 32029339-32029342, 32029389-32029431, 32029463-32029464, 32029492-32029497, 32029935-32029946, 32029974, 32030039-32030050, 32030104, 32030108-32030109, 32030135-32030138, 32030179, 32030187, 32030245-32030260, 32032598, 32032613-32032635, 32032655-32032677, 32032690, 32032771-32032774, 32032778, 32032783-32032786, 32032831-32032837, 32032863-32032865, 32032879, 32032883-32032892, 32035497-32035508, 32035615-32035617, 32035623, 32035626, 32035747, 32035752, 32036403, 32036777-32036801, 32037377-32037382, 32037386-32037391, 32037470, 32037504, 32038083, 32039796, 32039799-32039809, 32039925-32039934, 32039995-32040001, 32046980 |
| 607 | HLA-DQA1 | 6 | 0.90885416666667 | 70 | 768 | 32609169-32609181, 32609298-32609299, 32610008-32610009, 32610387-32610406, 32610436, 32610453, 32610461, 32610478, 32610481-32610482, 32610486-32610495, 32610522-32610538 |
| 608 | HLA-DQB1 | 6 | 0.74427480916031 | 201 | 786 | 32629124-32629173, 32629224-32629234, 32629889-32629891, 32629955, 32632575-32632677, 32632694, 32632703, 32632718, 32632721, 32632738-32632740, 32632775, 32632795, 32634300-32634321, 32634331, 32634341 |
| 609 | SYNGAP1 | 6 | 0.98115079365079 | 76 | 4032 | 33388042-33388108, 33410928-33410930, 33411549-33411551, 33411668-33411670 |
| 610 | TULP1 | 6 | 0.99017802332719 | 16 | 1629 | 35479964-35479965, 35479976-35479989 |
| 611 | MOCS1 | 6 | 0.75457875457875 | 469 | 1911 | 39880698, 39883830, 39883866-39883869, 39883873-39883877, 39883934-39883973, 39893422-39893589, 39895068-39895317 |
| 612 | PEX6 | 6 | 0.99898063200815 | 3 | 2943 | 42935293-42935295 |
| 613 | RSPH9 | 6 | 0.95427196149218 | 38 | 831 | 43612837-43612867, 43612923-43612929 |
| 614 | RUNX2 | 6 | 0.97381864623244 | 41 | 1566 | 45296464-45296486, 45390485-45390497, 45390520, 45390526, 45390530-45390532 |
| 615 | MUT | 6 | 0.99955614735908 | 1 | 2253 | 49409649 |
| 616 | EYS | 6 | 0.99989401165872 | 1 | 9435 | 64694294 |
| 617 | LMBRD1 | 6 | 0.99938385705484 | 1 | 1623 | 70410761 |
| 618 | RIMS1 | 6 | 0.99507777121481 | 25 | 5079 | 73001683-73001702, 73001722-73001726 |
| 619 | PDSS2 | 6 | 0.98666666666667 | 16 | 1200 | 107655421, 107655455, 107780270, 107780277, 107780303-107780314 |
| 620 | OSTM1 | 6 | 0.92039800995025 | 80 | 1005 | 108395484-108395486, 108395576, 108395585-108395590, 108395671-108395717, 108395788-108395809, 108395851 |
| 621 | FIG4 | 6 | 0.9996328928047 | 1 | 2724 | 110112663 |
| 622 | LAMA2 | 6 | 0.99957278650005 | 4 | 9363 | 129775426-129775429 |
| 623 | ENPP1 | 6 | 0.99892008639309 | 3 | 2778 | 132203497, 132203501, 132203592 |
| 624 | AHI1 | 6 | 0.99972152603732 | 1 | 3591 | 135776936 |
| 625 | IYD | 6 | 0.99540229885057 | 4 | 870 | 150713592-150713594, 150713610 |
| 626 | SYNE1 | 6 | 0.99946957641888 | 14 | 26394 | 152751641, 152751648, 152751653-152751655, 152751660, 152819907, 152831352-152831358 |
| 627 | TBP | 6 | 0.90196078431373 | 100 | 1020 | 170871010-170871109 |
| 628 | LFNG | 7 | 0.69122807017544 | 352 | 1140 | 2559496-2559696, 2559754-2559758, 2559772-2559773, 2559778-2559904, 2564343, 2564938-2564952, 2565954 |
| 629 | PMS2 | 7 | 0.98416376979529 | 41 | 2589 | 6017292-6017298, 6022492, 6026531-6026532, 6026541, 6026622-6026639, 6026775, 6026827, 6026841, 6026908, 6026959, 6027017, 6027035-6027036, 6027157-6027160 |
| 630 | TWIST1 | 7 | 0.83415435139573 | 101 | 609 | 19156711, 19156775-19156779, 19156784-19156786, 19156794, 19156802, 19156806-19156826, 19156830-19156833, 19156837-19156838, 19156841-19156872, 19156900-19156927, 19156935-19156937 |
| 631 | DNAH11 | 7 | 0.99904214559387 | 13 | 13572 | 21582969-21582971, 21894046-21894047, 21939659-21939665, 21939736 |
| 632 | KLHL7 | 7 | 0.98977853492334 | 18 | 1761 | 23164701-23164707, 23191701, 23191708-23191717 |
| 633 | HOXA13 | 7 | 0.85004284490146 | 175 | 1167 | 27239082-27239084, 27239210-27239212, 27239265, 27239315, 27239322-27239350, 27239365, 27239408-27239409, 27239440, 27239443-27239485, 27239492-27239581, 27239680 |
| 634 | BBS9 | 7 | 0.99812312312312 | 5 | 2664 | 33376136, 33390858, 33407461-33407463 |
| 635 | GLI3 | 7 | 0.99978916297702 | 1 | 4743 | 42005270 |
| 636 | GCK | 7 | 0.99571734475375 | 6 | 1401 | 44191870-44191875 |
| 637 | CCM2 | 7 | 0.71460674157303 | 381 | 1335 | 45039939-45039962, 45077994, 45103533, 45112325-45112336, 45112379, 45113082-45113085, 45113093-45113098, 45113107-45113113, 45113121, 45113126, 45113148, 45113151-45113154, 45113167-45113170, 45113869-45114007, 45115376-45115414, 45115420, 45115437-45115456, 45115458-45115469, 45115502-45115529, 45115582-45115656 |
| 638 | ASL | 7 | 0.4752688172043 | 732 | 1395 | 65546850, 65546917-65546918, 65546921, 65546963-65546972, 65547377, 65547385, 65547407, 65547423, 65547434, 65547916, 65548066, 65548100-65548117, 65551600, 65551731-65551761, 65551770, 65551798, 65551803, 65551806-65551808, 65552321-65552322, 65552328-65552345, 65552348-65552359, 65552716-65552744, 65552750-65552778, 65553794-65553816, 65553824-65553852, 65553864-65553892, 65554078-65554108, 65554127-65554162, 65554263-65554322, 65554599-65554604, 65554629-65554682, 65556993-65557073, 65557544-65557619, 65557641-65557650, 65557755-65557805, 65557821-65557899 |
| 639 | KCTD7 | 7 | 0.95747126436782 | 37 | 870 | 66094052-66094055, 66094124-66094138, 66094169-66094186 |
| 640 | NCF1 | 7 | 0.9369696969697 | 52 | 825 | 72639983-72639999, 72640033-72640039, 72643601-72643607, 72648730-72648750 |
| 641 | ELN | 7 | 0.90712643678161 | 202 | 2175 | 73442518-73442599, 73462859, 73462863-73462865, 73462871-73462875, 73462880, 73466087-73466088, 73466092-73466115, 73466123, 73466165, 73466168, 73466255, 73466263-73466285, 73467495-73467497, 73467591-73467624, 73471987, 73471993, 73474276, 73477483-73477495, 73477550-73477553 |
| 642 | NCF1 | 7 | 0.88832054560955 | 131 | 1173 | 74191613-74191614, 74193639-74193681, 74197381, 74197388, 74199564-74199613, 74202410-74202431, 74202915-74202921, 74203005-74203008, 74203383 |
| 643 | POR | 7 | 0.93832599118943 | 126 | 2043 | 75613086, 75614192-75614194, 75614237-75614239, 75614273-75614276, 75614439, 75614476-75614494, 75614915-75614928, 75614994-75615015, 75615058, 75615121, 75615245, 75615276-75615282, 75615363, 75615371, 75615376, 75615477-75615502, 75615541-75615559, 75615677 |
| 644 | HSPB1 | 7 | 0.99676375404531 | 2 | 618 | 75932074-75932075 |
| 645 | AKAP9 | 7 | 0.98311156601842 | 198 | 11724 | 91674323-91674324, 91674395-91674397, 91682105-91682111, 91682138-91682181, 91682200-91682202, 91682208-91682224, 91682266-91682272, 91690607, 91690663-91690664, 91690676-91690721, 91691693-91691719, 91691725, 91691728, 91691791-91691800, 91694572, 91694611, 91694626-91694629, 91699413-91699415, 91700296-91700312, 91706230 |
| 646 | COL1A2 | 7 | 0.99829309924409 | 7 | 4101 | 94058627-94058633 |
| 647 | SLC25A13 | 7 | 0.99753815854259 | 5 | 2031 | 95751276, 95751279, 95751287, 95751307, 95761104 |
| 648 | TFR2 | 7 | 0.98836242726517 | 28 | 2406 | 100238616-100238623, 100238642-100238660, 100238786 |
| 649 | RELN | 7 | 0.99980726606919 | 2 | 10377 | 103251161, 103417029 |
| 650 | SLC26A3 | 7 | 0.98474945533769 | 35 | 2295 | 107427936, 107429970, 107430078, 107430082-107430089, 107430093-107430095, 107432302, 107432358-107432377 |
| 651 | MET | 7 | 0.98969566259286 | 43 | 4173 | 116339409-116339419, 116339500, 116339588-116339611, 116339744-116339746, 116339771, 116339789, 116340251, 116436097 |
| 652 | CFTR | 7 | 0.95903668692325 | 182 | 4443 | 117188713-117188753, 117188760-117188800, 117188847-117188853, 117234986-117235032, 117235044-117235051, 117235055, 117235059-117235060, 117267616, 117267685-117267695, 117267733-117267736, 117267779-117267783, 117282538-117282551 |
| 653 | AASS | 7 | 0.99748291981302 | 7 | 2781 | 121769491-121769496, 121769501 |
| 654 | IMPDH1 | 7 | 0.97944444444444 | 37 | 1800 | 128038553-128038556, 128040413, 128049810, 128049813-128049823, 128049853-128049862, 128049897, 128049914-128049922 |
| 655 | FLNC | 7 | 0.98520420640743 | 121 | 8178 | 128470692-128470736, 128470789-128470795, 128470881-128470913, 128470990, 128477262-128477263, 128477269-128477273, 128477279, 128477303-128477309, 128478109-128478118, 128482734, 128494178-128494179, 128498495-128498501 |
| 656 | BRAF | 7 | 0.99826162538027 | 4 | 2301 | 140494200, 140624408-140624410 |
| 657 | CNTNAP2 | 7 | 0.99974974974975 | 1 | 3996 | 146825874 |
| 658 | KCNH2 | 7 | 0.99597701149425 | 14 | 3480 | 150655210, 150674929-150674939, 150675000-150675001 |
| 659 | PRKAG2 | 7 | 0.99824561403509 | 3 | 1710 | 151329217, 151372614-151372615 |
| 660 | SHH | 7 | 0.8768898488121 | 171 | 1389 | 155595594-155595596, 155595604-155595621, 155595630, 155595642-155595644, 155595655-155595659, 155595750-155595752, 155595784-155595799, 155595823-155595826, 155595831, 155595850, 155595853-155595854, 155595862, 155595865, 155595876-155595904, 155595928-155595946, 155596038-155596042, 155596045, 155596098-155596102, 155596126-155596151, 155596185-155596209, 155599118, 155599143 |
| 661 | MNX1 | 7 | 0.90961857379768 | 109 | 1206 | 156799261, 156802673, 156802677-156802742, 156802886-156802919, 156802928, 156802932-156802937 |
| 662 | CLN8 | 8 | 0.99883855981417 | 1 | 861 | 1728722 |
| 663 | MCPH1 | 8 | 0.99003189792663 | 25 | 2508 | 6264210, 6272392-6272399, 6289020-6289029, 6289094-6289096, 6289099-6289101 |
| 664 | GATA4 | 8 | 0.99623777276147 | 5 | 1329 | 11565887, 11565890, 11565894, 11565909, 11566216 |
| 665 | TUSC3 | 8 | 0.99522445081184 | 5 | 1047 | 15588234-15588238 |
| 666 | CHRNA2 | 8 | 0.99811320754717 | 3 | 1590 | 27320629-27320630, 27320719 |
| 667 | ESCO2 | 8 | 0.98726467331118 | 23 | 1806 | 27633937, 27657154, 27657189-27657195, 27657221-27657233, 27660853 |
| 668 | THAP1 | 8 | 0.55919003115265 | 283 | 642 | 42693105-42693106, 42693125-42693134, 42693148, 42693160-42693169, 42693183-42693198, 42693214, 42693217-42693221, 42693238-42693239, 42693246-42693248, 42693286-42693301, 42693330, 42693333, 42693367-42693398, 42693429-42693438, 42693466-42693479, 42694329-42694352, 42694383-42694411, 42694446, 42694451, 42694455-42694470, 42694491-42694524, 42698180-42698233 |
| 669 | HGSNAT | 8 | 0.98637316561845 | 26 | 1908 | 42995669-42995691, 42995707-42995709 |
| 670 | TMEM67 | 8 | 0.99966532797858 | 1 | 2988 | 94808165 |
| 671 | GDF6 | 8 | 0.99488304093567 | 7 | 1368 | 97157410-97157411, 97157572-97157576 |
| 672 | NDRG1 | 8 | 0.99831223628692 | 2 | 1185 | 134251163, 134251166 |
| 673 | SLURP1 | 8 | 0.044871794871795 | 298 | 312 | 143822561-143822675, 143822690-143822694, 143823221-143823340, 143823746-143823803 |
| 674 | PLEC | 8 | 0.8389896833867 | 2263 | 14055 | 144992390, 144994393, 144995033-144995036, 144995679-144995686, 144996210, 144996221-144996265, 144996539-144996563, 144996875, 144997006, 144997021, 144997032, 144997101-144997105, 144997111, 144997431-144997437, 144997444-144997450, 144997479, 144997521-144997522, 144997525, 144997846, 144997852-144997867, 144997905-144997908, 144997913-144997914, 144997979, 144997987-144997988, 144997993, 144998228-144998232, 144998248-144998285, 144998305-144998308, 144998407, 144998425, 144998455-144998464, 144998514, 144998544-144998583, 144998632, 144998660, 144998665, 144998680-144998701, 144998794, 144998797, 144998865-144998868, 144998887-144998935, 144998939-144998940, 144998953, 144998959, 144998963-144998990, 144999010-144999027, 144999034, 144999068, 144999074, 144999086-144999090, 144999111-144999144, 144999209-144999322, 144999335-144999370, 144999425-144999439, 144999469, 144999476-144999511, 144999550-144999578, 144999639-144999660, 144999700, 144999703-144999714, 144999738-144999769, 144999798-144999853, 144999910, 144999916-144999917, 144999920, 144999964-144999968, 144999973, 144999977, 145000952-145000987, 145001173-145001201, 145001224, 145001228, 145001497-145001503, 145001613-145001614, 145001671, 145001675, 145001706-145001739, 145001744, 145001760-145001766, 145001819, 145001822, 145001876-145001882, 145002036, 145003314, 145003366-145003374, 145003387, 145003397, 145003400-145003408, 145003614-145003637, 145003664, 145003671, 145003675-145003676, 145003815-145003851, 145003934-145003935, 145003952-145003958, 145004104-145004119, 145004316, 145004320-145004347, 145004389-145004391, 145004571-145004604, 145004613-145004626, 145005702-145005726, 145005770, 145006127-145006161, 145006169-145006200, 145006298-145006379, 145006386-145006387, 145006568-145006645, 145006653-145006679, 145006722, 145006803-145006820, 145006842-145006880, 145006961-145006999, 145007005-145007056, 145007090-145007146, 145007160-145007206, 145007235-145007266, 145007372-145007392, 145007415-145007416, 145007430-145007447, 145007498-145007519, 145008166-145008189, 145008204-145008241, 145008254, 145008492-145008510, 145008555, 145008574, 145008846-145008884, 145008978-145009006, 145009047-145009048, 145009056, 145009085-145009091, 145009094, 145009179-145009279, 145009366-145009395, 145009410-145009412, 145009467-145009481, 145010016-145010056, 145010120-145010172, 145011157-145011163, 145011204-145011237, 145011333-145011355, 145011363, 145011392-145011395, 145011398-145011405, 145012338, 145012347, 145012384, 145012408, 145024352-145024359, 145024368, 145024384-145024390, 145024445, 145024463-145024464, 145024471, 145024476, 145024493, 145024540-145024546, 145024572, 145024602-145024604, 145024734-145024739, 145024844-145024847, 145024851-145024853, 145024860, 145024874 |
| 675 | GPT | 8 | 0.15492957746479 | 1260 | 1491 | 145729688-145729737, 145729744, 145729749, 145729759, 145729762-145729763, 145729776-145729779, 145729782-145729837, 145729840, 145729848, 145729987-145730032, 145730048-145730076, 145730181, 145730184-145730197, 145730214-145730222, 145730381-145730409, 145730421-145730458, 145730471-145730510, 145730635-145730796, 145730813-145730854, 145730870-145730872, 145731231-145731310, 145731378-145731425, 145731432-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732226, 145732306, 145732310-145732383 |
| 676 | RECQL4 | 8 | 0.23159636062862 | 2787 | 3627 | 145736814-145736938, 145737064-145737074, 145737081-145737129, 145737156-145737172, 145737294-145737325, 145737329-145737333, 145737344-145737450, 145737527-145737554, 145737560-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739471, 145739481-145739491, 145739573, 145739611-145739651, 145739669-145739746, 145739843-145739882, 145739900-145739909, 145740320-145740353, 145740376, 145740386, 145740421-145740456, 145740534-145740577, 145740583-145740626, 145740717-145740720, 145740755, 145740761-145740763, 145740766-145740767, 145740792-145740805, 145740838-145740841, 145741148-145741170, 145741182-145741216, 145741252-145741253, 145741259-145741262, 145741417-145741503, 145741511-145741537, 145741569, 145741573-145741589, 145741612-145741640, 145741653-145741685, 145741702, 145741723-145741769, 145741780-145741791, 145741798, 145741851-145741855, 145741870-145741991, 145742016-145742047, 145742067-145742071, 145742100-145742126, 145742470, 145742480-145742485, 145742499, 145742508-145742569, 145742798-145742892, 145742986-145742998, 145743004-145743019, 145743085-145743089, 145743100-145743101, 145743116, 145743142-145743168 |
| 677 | DOCK8 | 9 | 0.97412698412698 | 163 | 6300 | 312014, 312087, 312099, 312107, 317072, 325678, 325682, 328044-328092, 328111, 328115, 328119-328129, 328138-328139, 328144-328145, 328163-328171, 332418-332434, 332454-332478, 334329-334333, 336667, 336670-336671, 422122-422125, 429708-429722, 429740, 433949-433951, 446523, 452045-452051 |
| 678 | VLDLR | 9 | 0.97406559877956 | 68 | 2622 | 2622190-2622254, 2651444, 2652883-2652884 |
| 679 | GLDC | 9 | 0.99967352269017 | 1 | 3063 | 6645352 |
| 680 | B4GALT1 | 9 | 0.99665831244779 | 4 | 1197 | 33166938, 33166996, 33167125, 33167141 |
| 681 | VCP | 9 | 0.99834779016935 | 4 | 2421 | 35068280-35068283 |
| 682 | NPR2 | 9 | 0.99936386768448 | 2 | 3144 | 35792422-35792423 |
| 683 | FXN | 9 | 0.8436018957346 | 99 | 633 | 71650807, 71668056-71668079, 71668088-71668132, 71668144-71668172 |
| 684 | VPS13A | 9 | 0.99853018372703 | 14 | 9525 | 79931210-79931223 |
| 685 | ROR2 | 9 | 0.99046610169492 | 27 | 2832 | 94495409-94495419, 94495431, 94495619-94495633 |
| 686 | FBP1 | 9 | 0.976401179941 | 24 | 1017 | 97365709-97365714, 97365801-97365817, 97382613 |
| 687 | FANCC | 9 | 0.99463327370304 | 9 | 1677 | 97897663-97897671 |
| 688 | FOXE1 | 9 | 0.98395721925134 | 18 | 1122 | 100616698-100616715 |
| 689 | TGFBR1 | 9 | 0.99801587301587 | 3 | 1512 | 101867538-101867540 |
| 690 | ABCA1 | 9 | 0.99970527556734 | 2 | 6786 | 107547761, 107556703 |
| 691 | DFNB31 | 9 | 0.9988986784141 | 3 | 2724 | 117240874, 117240880-117240881 |
| 692 | NR5A1 | 9 | 0.95815295815296 | 58 | 1386 | 127245156-127245185, 127253486, 127255326, 127255425, 127262544, 127262868, 127262874, 127265358, 127265408-127265413, 127265418-127265425, 127265493, 127265669-127265674 |
| 693 | LMX1B | 9 | 0.98391420911528 | 18 | 1119 | 129376850-129376867 |
| 694 | STXBP1 | 9 | 0.99503311258278 | 9 | 1812 | 130374711-130374719 |
| 695 | ENG | 9 | 0.9291856348002 | 140 | 1977 | 130577965-130577985, 130578006, 130578033, 130578041, 130578226, 130578246-130578257, 130579470, 130579473, 130579480, 130580635, 130581027-130581028, 130586626-130586653, 130587238, 130587608-130587614, 130588066-130588088, 130592010-130592015, 130592020-130592024, 130605375, 130616573-130616598 |
| 696 | GLE1 | 9 | 0.99809251311397 | 4 | 2097 | 131285938-131285941 |
| 697 | ASS1 | 9 | 0.99838579499596 | 2 | 1239 | 133327709-133327710 |
| 698 | POMT1 | 9 | 0.9862258953168 | 30 | 2178 | 134394237-134394241, 134394821, 134394825-134394829, 134394832, 134396757-134396759, 134397440-134397446, 134398392-134398399 |
| 699 | SETX | 9 | 0.99054020413244 | 76 | 8034 | 135139867-135139872, 135139901, 135140364-135140370, 135152530-135152532, 135153562, 135158733, 135158737, 135171316, 135171415, 135172287-135172305, 135172351, 135172412, 135173467-135173470, 135173495-135173508, 135173667-135173678, 135176055, 135176085, 135204187 |
| 700 | TTF1 | 9 | 0.99264164827079 | 20 | 2718 | 135254513-135254531, 135266106 |
| 701 | TSC1 | 9 | 0.99914163090129 | 3 | 3495 | 135779063-135779065 |
| 702 | CEL | 9 | 0.85821224130339 | 322 | 2271 | 135944583-135944589, 135946566-135946579, 135946603, 135946611-135946613, 135946618, 135946648-135946704, 135946714-135946897, 135946914-135946964, 135946976-135946978, 135946981 |
| 703 | SURF1 | 9 | 0.92358803986711 | 69 | 903 | 136223143-136223175, 136223294-136223329 |
| 704 | ADAMTS13 | 9 | 0.74579831932773 | 1089 | 4284 | 136287662-136287666, 136291063, 136291414-136291429, 136291455-136291457, 136293754-136293891, 136295059-136295096, 136295110-136295153, 136295174, 136295177-136295189, 136295198, 136295204-136295221, 136297709-136297711, 136297727-136297733, 136298498-136298517, 136298528-136298559, 136298591-136298624, 136301956-136301982, 136302010-136302064, 136302869-136302877, 136302889-136302938, 136302968-136303012, 136303392-136303404, 136303418, 136303429-136303434, 136303441, 136303449, 136304533-136304534, 136305484-136305510, 136305588, 136305611-136305613, 136305618-136305621, 136305625, 136305636-136305645, 136307524-136307526, 136307573-136307602, 136307628-136307637, 136307743, 136307758-136307760, 136307822-136307864, 136308509-136308511, 136308518-136308521, 136308527, 136308581-136308583, 136308588-136308592, 136308607-136308649, 136308664-136308682, 136310014-136310041, 136310090, 136310095, 136310107, 136310116-136310167, 136310820-136310823, 136310834-136310877, 136310890-136310902, 136310937-136310940, 136313720-136313749, 136313785-136313801, 136313849, 136314919, 136314922-136314925, 136314928, 136314931, 136315003-136315008, 136315011-136315013, 136315068, 136315081-136315086, 136319609, 136319683, 136320480, 136320592, 136320611-136320612, 136320637-136320644, 136321214-136321222, 136321291-136321294, 136321307, 136321796, 136323090-136323095, 136323191-136323195, 136324233-136324235, 136324239, 136324262-136324264, 136324268, 136324273-136324282, 136324289-136324302 |
| 705 | DBH | 9 | 0.76159654800431 | 442 | 1854 | 136501559, 136501563-136501564, 136501574-136501581, 136501586-136501593, 136505018-136505029, 136508683-136508689, 136509408-136509412, 136513050-136513065, 136513096-136513115, 136516756-136516784, 136516789-136516899, 136517368-136517371, 136517375-136517377, 136517380, 136518076-136518121, 136521645-136521661, 136521685-136521709, 136521738-136521754, 136521760, 136522220-136522247, 136522253-136522255, 136522262-136522264, 136522267-136522273, 136522296, 136522305-136522315, 136522322-136522351, 136523501, 136523515-136523538, 136523541 |
| 706 | SARDH | 9 | 0.79071454479507 | 577 | 2757 | 136529011-136529060, 136529076-136529092, 136529104-136529129, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136559386, 136559471-136559485 |
| 707 | COL5A1 | 9 | 0.8299800616277 | 938 | 5517 | 137534034-137534129, 137582758-137582767, 137582779, 137582792, 137582860-137582925, 137591755-137591777, 137591785-137591793, 137591817-137591877, 137591888-137591930, 137591954-137591968, 137593031-137593037, 137593041-137593044, 137593060-137593179, 137619115, 137619120-137619136, 137619195, 137619199-137619200, 137619238-137619243, 137622143, 137622238, 137622251, 137622261-137622287, 137623390-137623456, 137623462-137623509, 137630332-137630352, 137630631-137630654, 137642411-137642425, 137642439-137642455, 137642459, 137642678-137642728, 137644463, 137644467, 137644470, 137645696-137645703, 137645725-137645742, 137646119-137646123, 137646138-137646172, 137648618-137648631, 137648649, 137648658, 137648661-137648664, 137650095-137650132, 137653771-137653812, 137655574-137655583, 137657528, 137657536 |
| 708 | LHX3 | 9 | 0.87262200165426 | 154 | 1209 | 139089285-139089288, 139089303, 139089321, 139089402, 139089504-139089534, 139089549-139089551, 139089555, 139089560-139089565, 139090787, 139090793-139090799, 139090804, 139090811, 139090849-139090856, 139090881, 139090905, 139094792-139094868, 139094874-139094882 |
| 709 | INPP5E | 9 | 0.81395348837209 | 360 | 1935 | 139326285-139326293, 139326355-139326394, 139326415-139326437, 139326996-139327003, 139327034, 139327684-139327687, 139327718-139327720, 139328585, 139329249-139329250, 139333117, 139333121-139333124, 139333131-139333134, 139333138, 139333155-139333159, 139333162-139333187, 139333210-139333249, 139333289, 139333325-139333381, 139333446, 139333505, 139333516-139333519, 139333528-139333556, 139333577-139333598, 139333629-139333640, 139333684-139333703, 139333744-139333746, 139333751-139333754, 139333773-139333798, 139333840-139333841, 139333852-139333853, 139333867-139333870 |
| 710 | NOTCH1 | 9 | 0.49595722483046 | 3865 | 7668 | 139390523-139390548, 139390562-139390564, 139390571-139390601, 139390627, 139390644-139390645, 139390650-139390670, 139390680-139390687, 139390738-139390765, 139390781-139390877, 139390893-139390931, 139390934-139390936, 139390968, 139390994, 139391001-139391004, 139391036-139391045, 139391088, 139391099-139391117, 139391162, 139391192-139391212, 139391264-139391266, 139391274-139391291, 139391295, 139391316-139391362, 139391382-139391412, 139391441, 139391474-139391476, 139391505-139391559, 139391572-139391581, 139391598, 139391605-139391651, 139391663-139391686, 139391710-139391711, 139391792-139391835, 139391841-139391911, 139391928, 139391934, 139391944-139391994, 139392001, 139392005-139392007, 139393572-139393587, 139395009-139395031, 139395080-139395081, 139395087-139395089, 139395092, 139395119-139395162, 139395202-139395217, 139395256-139395289, 139395298-139395299, 139396234-139396242, 139396275, 139396285, 139396295-139396333, 139396472, 139396523, 139396532, 139396736-139396742, 139396802, 139396820, 139396866-139396924, 139397634-139397635, 139397644-139397689, 139397702, 139397712, 139397756, 139397759, 139399128-139399158, 139399169-139399192, 139399206-139399212, 139399215, 139399220-139399222, 139399231, 139399241-139399286, 139399295-139399308, 139399356-139399357, 139399439-139399440, 139399448, 139399521-139399544, 139399781-139399797, 139399831, 139399843-139399880, 139399907-139399909, 139399946, 139399981-139400039, 139400072-139400075, 139400152-139400160, 139400203, 139400245-139400291, 139400308-139400311, 139400317-139400333, 139400979-139400980, 139400983, 139401006-139401035, 139401078-139401085, 139401090-139401091, 139401178, 139401275, 139401280, 139401284, 139401297, 139401315-139401331, 139401335, 139401341, 139401384, 139401784, 139401837, 139401850, 139401876-139401887, 139402514-139402516, 139402585, 139402789, 139402799-139402828, 139403336-139403337, 139403350-139403367, 139403373-139403374, 139403389-139403437, 139403501, 139404199-139404203, 139404243, 139404246, 139404315-139404326, 139404378-139404406, 139405134-139405173, 139405202, 139405212, 139405231-139405257, 139405610-139405615, 139405623-139405632, 139405638-139405644, 139405681-139405703, 139407473-139407496, 139407508-139407510, 139407514-139407544, 139407565, 139407576-139407586, 139407844-139407890, 139407904-139407989, 139408982-139409028, 139409040-139409089, 139409110-139409154, 139409753-139409832, 139409841-139409852, 139409935-139409983, 139409999-139410056, 139410083-139410144, 139410433-139410498, 139410508, 139410523-139410546, 139411732-139411837, 139412228-139412389, 139412589-139412603, 139412614-139412685, 139412691-139412695, 139412710-139412744, 139413043-139413234, 139413251-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438503, 139438508-139438519, 139440178-139440238 |
| 711 | AGPAT2 | 9 | 0.81123058542413 | 158 | 837 | 139569222-139569224, 139571582-139571588, 139571888, 139571921, 139581640-139581714, 139581739-139581809 |
| 712 | SLC34A3 | 9 | 0.66888888888889 | 596 | 1800 | 140126156, 140126170, 140126235, 140127032, 140127039, 140127052-140127055, 140127108, 140127136, 140127700, 140127707-140127711, 140127717, 140127809-140127817, 140128087-140128110, 140128126-140128163, 140128315-140128377, 140128561-140128666, 140128696, 140128947-140128967, 140129062-140129065, 140129131-140129146, 140129181-140129183, 140130404-140130451, 140130459-140130523, 140130527, 140130538-140130587, 140130606, 140130612, 140130645, 140130660-140130661, 140130670-140130674, 140130679, 140130726-140130762, 140130783-140130827, 140130833-140130868 |
| 713 | EHMT1 | 9 | 0.8142160636387 | 724 | 3897 | 140605425-140605469, 140605481-140605482, 140611078-140611421, 140611427-140611634, 140622801-140622802, 140622835-140622867, 140622953-140622978, 140669686-140669687, 140671158-140671159, 140671249-140671289, 140672343, 140672401, 140674098-140674103, 140728928-140728931, 140728960-140728962, 140728974, 140729402-140729404 |
| 714 | SHOX | X | 0.52332195676906 | 419 | 879 | 591633-591909, 595353-595355, 595381-595511, 595519, 595526, 595534, 595542-595545, 595555 |
| 715 | CSF2RA | X | 0.43524904214559 | 737 | 1305 | 1401597-1401617, 1401652-1401670, 1404671-1404740, 1404761-1404801, 1404812-1404813, 1407652-1407658, 1407675, 1407692-1407698, 1407719-1407767, 1409230-1409246, 1409273-1409275, 1409296-1409365, 1409372-1409402, 1413221-1413313, 1413324-1413354, 1414320-1414349, 1419384-1419394, 1419425, 1419431-1419457, 1419478-1419480, 1419498-1419519, 1422154-1422231, 1422243-1422255, 1422816-1422832, 1422843-1422912, 1424397, 1424400-1424401 |
| 716 | NLGN4X | X | 0.99551203590371 | 11 | 2451 | 5947390-5947400 |
| 717 | ARX | X | 0.98993487270574 | 17 | 1689 | 25031660-25031665, 25031777-25031779, 25031901-25031908 |
| 718 | DMD | X | 0.9875203472599 | 138 | 11058 | 31697505-31697520, 32382765-32382772, 32383177, 32383181-32383198, 32398631-32398651, 32398672, 32398716-32398727, 32404427-32404450, 32404565-32404566, 32407618-32407621, 32408188-32408193, 32408237-32408247, 32408285-32408298 |
| 719 | RPGR | X | 0.7872217403874 | 736 | 3459 | 38144815-38144829, 38144967-38144970, 38145041-38145056, 38145113, 38145163-38145194, 38145209-38145254, 38145278-38145353, 38145362-38145381, 38145389-38145415, 38145423-38145631, 38145648-38145739, 38145753-38145778, 38145791-38145804, 38145828, 38145831-38145853, 38145873-38145906, 38145911, 38145948-38146003, 38146030, 38146043-38146053, 38146061-38146063, 38146144, 38146153-38146158, 38146244-38146248, 38146252, 38146257, 38146459-38146472 |
| 720 | NYX | X | 0.98271092669433 | 25 | 1446 | 41332787, 41333415-41333418, 41333948-41333967 |
| 721 | SYP | X | 0.99787685774947 | 2 | 942 | 49048193-49048194 |
| 722 | CACNA1F | X | 0.98550724637681 | 86 | 5934 | 49061648-49061667, 49063051-49063052, 49064975-49064981, 49065080-49065091, 49065135-49065144, 49065750-49065777, 49067502-49067508 |
| 723 | SMC1A | X | 0.99648838465694 | 13 | 3702 | 53440363-53440370, 53441803-53441807 |
| 724 | AR | X | 0.99710459645313 | 8 | 2763 | 66765159-66765166 |
| 725 | OPHN1 | X | 0.99792444997924 | 5 | 2409 | 67283894-67283898 |
| 726 | MED12 | X | 0.99954086317723 | 3 | 6534 | 70361098-70361100 |
| 727 | TAF1 | X | 0.99243224216825 | 43 | 5682 | 70586184-70586195, 70586210-70586220, 70586223, 70679439-70679449, 70683766-70683773 |
| 728 | KIAA2022 | X | 0.9995605361459 | 2 | 4551 | 73962812, 73963590 |
| 729 | ATP7A | X | 0.99955585165445 | 2 | 4503 | 77287028-77287029 |
| 730 | BRWD3 | X | 0.99315954889998 | 37 | 5409 | 79948444-79948456, 79975130-79975133, 79984301-79984305, 79985415, 79985517-79985519, 79990626-79990636 |
| 731 | TIMM8A | X | 0.93537414965986 | 19 | 294 | 100601646-100601648, 100603521-100603536 |
| 732 | BTK | X | 0.98787878787879 | 24 | 1980 | 100608911-100608927, 100629554-100629560 |
| 733 | GLA | X | 0.98217054263566 | 23 | 1290 | 100652817-100652819, 100653408, 100653799-100653803, 100653859, 100653862-100653864, 100658919-100658925, 100658961-100658963 |
| 734 | DCX | X | 0.97134238310709 | 38 | 1326 | 110555962-110555964, 110574160-110574185, 110576358, 110576362-110576368, 110576377 |
| 735 | CUL4B | X | 0.99963530269876 | 1 | 2742 | 119694457 |
| 736 | XIAP | X | 0.98661311914324 | 20 | 1494 | 123019734-123019749, 123019844, 123025139-123025141 |
| 737 | ZDHHC9 | X | 0.99817351598174 | 2 | 1095 | 128948688-128948689 |
| 738 | SLC6A8 | X | 0.96750524109015 | 62 | 1908 | 152954030-152954048, 152954133-152954155, 152954172-152954191 |
| 739 | ABCD1 | X | 0.99240393208222 | 17 | 2238 | 153008785-153008791, 153008943-153008945, 153008981-153008987 |
| 740 | L1CAM | X | 0.99708532061473 | 11 | 3774 | 153136591-153136601 |
| 741 | MECP2 | X | 0.98864395457582 | 17 | 1497 | 153363062-153363074, 153363103-153363105, 153363108 |
| 742 | OPN1LW | X | 0.98995433789954 | 11 | 1095 | 153418453-153418463 |
| 743 | OPN1MW | X | 0.99269406392694 | 8 | 1095 | 153455595-153455601, 153458990 |
| 744 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153492713-153492719 |
| 745 | FLNA | X | 0.99949647532729 | 4 | 7944 | 153589783-153589784, 153590088-153590089 |
| 746 | EMD | X | 0.98692810457516 | 10 | 765 | 153608610-153608612, 153609311-153609317 |
| 747 | F8 | X | 0.99730725623583 | 19 | 7056 | 154156997-154157003, 154159182-154159191, 154159826, 154159829 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 3 | COL4A1-Q1334H | homozygous | 0.325 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-V7L | homozygous | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SLC4A1-P854L | het unknown | 0.001 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.952 (probably damaging), Testable gene in GeneTests |
| 2.5 | SLC4A1-K56E | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PKHD1-Q4048R | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | PKHD1-Q3899R | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | PKHD1-A1262V | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | PKHD1-N830S | homozygous | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | PKHD1-R760C | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | ELAC2-S217L | homozygous | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 2 | LPA-I1891M | het unknown | 0.016 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | LPA-M1679T | het unknown | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | LPA-T1399P | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | LPA-L1372V | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | LPA-L1358V | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ABCG8-D19H | het unknown | 0.058 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | ABCG8-Y54C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 2 | ABCG8-A550T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2 | ABCG8-V632A | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-V337I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-K23E | homozygous | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | APOB-S4338N | het unknown | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-E4181K | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-P2739L | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | homozygous | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-V474I | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | HPS1-P491R | homozygous | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | CILP-G1166S | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-I395T | homozygous | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | PRNP-M129V | het unknown | 0.340 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | CFTR-V470M | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | CFTR-G576A | het unknown | 0.005 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | CFTR-R668C | het unknown | 0.006 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | CFTR-F1052V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CHRNE-G18V | homozygous | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-V235I | homozygous | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-T217I | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-S214N | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D167G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G157A | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D89A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-Q85L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-A70V | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-Y69I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-Y62S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-F41Y | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D12G | homozygous | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-L8M | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-C34Y | homozygous | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F41S | homozygous | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y48F | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-T49S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-A68V | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R70K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-R70K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-W71L | homozygous | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E73L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-S75H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-KF76RL | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-KF76RL | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-G78R | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | homozygous | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y103S | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | homozygous | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-R48P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | MRVI1-P186S | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | MRVI1-A70T | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MRVI1-I11V | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HHIPL2-H391D | homozygous | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HHIPL2-V241M | homozygous | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 1 | ZZEF1-I2014V | homozygous | 0.532 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZZEF1-S1437A | homozygous | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ZZEF1-V30A | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZAN-W1883* | homozygous | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1 | ZAN-R1922H | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZAN-F1968L | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZAN-S2034T | homozygous | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZAN-S2204N | homozygous | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | ZAN-W2429R | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZAN-T2526M | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | CHIT1-A442G | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 1 | CHIT1-G102S | het unknown | 0.281 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 1 | ABI3-R44Q | homozygous | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | ABI3-F209S | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SORCS1-N1155S | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | UNC45B-V60I | homozygous | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | RYK-L17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GHRHR-M422T | homozygous | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ABCA12-R631Q | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.764 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SEBOX-L207S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C17orf103-V41I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C17orf103-C16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC42-A144T | homozygous | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SP110-M523T | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-L425S | het unknown | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-G299R | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SCN9A-D1908G | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SCN9A-W1150R | homozygous | 0.878 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SCN9A-V991L | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SCN9A-M932L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SCN9A-R185H | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | NR_027433-G168Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027433-A156P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | GUCY2D-W21R | het unknown | 0.043 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.033 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | GUCY2D-A52S | het unknown | 0.210 | Recessive benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | GUCY2D-P701S | het unknown | 0.025 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FANCF-D125N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.906 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ANO7-V67I | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1 | ANO7-V435E | homozygous | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.895 (probably damaging) |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | MS4A14-Q612H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 1 | AX746903-L13P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AX746903-R91L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AX746903-Q107RR | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AX746903-Q107RR | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CYP1A1-I462V | homozygous | 0.027 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.488 (possibly damaging) |
| 1 | FAT4-Q1257E | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 1 | FAT4-D2826N | homozygous | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.963 (probably damaging) |
| 1 | FAT4-S3873N | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | STAT2-T448M | homozygous | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 1 | KRT4-Q230R | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT4-A146V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PPARG-P12A | homozygous | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-D5Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-S606SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZXDC-P562L | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging) |
| 1 | ZXDC-P118A | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | BAHD1-E26G | homozygous | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 1 | ATP10D-F60L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ATP10D-N720S | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ATP10D-V1240I | homozygous | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | EPSTI1-E395Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | EPSTI1-K258N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ATP7B-H1207R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7B-V1140A | homozygous | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7B-R952K | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7B-K832R | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7B-V456L | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7B-S406A | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | DUOX2-P982A | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DUOX2-R701Q | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DUOX2-H678R | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CELA1-Q243R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CELA1-R44W | homozygous | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CELA1-Q10H | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.463 (possibly damaging) |
| 1 | CELA1-Y5P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CELA1-V3Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | ADRB2-G16R | homozygous | 0.413 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | ADRB2-E27Q | homozygous | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | PRODH-R521Q | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PRODH-V427M | homozygous | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PRODH-T275N | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PRODH-W185R | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TMPRSS3-I253V | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TMPRSS3-V53I | het unknown | 0.081 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests |
| 1 | TCIRG1-V558L | homozygous | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027127-W61* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C5orf20-R117* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C5orf20-N97D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C5orf20-T75P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | DNAJB7-L56Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CIITA-L45V | homozygous | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 1 | CIITA-R174G | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CIITA-G500A | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 1 | CIITA-Q900R | homozygous | 0.919 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GPR98-L1093F | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V1951I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-P1987L | homozygous | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-Y2232C | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2345S | homozygous | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2584S | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3471K | homozygous | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3867K | homozygous | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E5344G | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5876I | homozygous | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-P6239A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | VWF-V1565L | homozygous | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.038 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | VWF-T1381A | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SCARF2-A832G | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-T425S | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NR_027052-Q90* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | WNK1-T665I | homozygous | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WNK1-T1056P | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WNK1-M1808I | homozygous | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PIK3R6-R399Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | MTHFR-A222V | homozygous | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 1 | DPYD-R29C | homozygous | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CXorf59-R424Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | LPHN2-P456S | homozygous | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 1 | CYP2B6-Q172H | homozygous | 0.292 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 1 | CYP2B6-K262R | homozygous | 0.043 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | AGL-G1115R | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DGKK-D1111N | homozygous | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ABCG5-R50C | het unknown | 0.068 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TAF1-L290V | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ICAM1-G241R | homozygous | 0.075 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.948 (probably damaging) |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ARSD-S224C | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1 | ARSD-M176K | homozygous | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 1 | ARSD-G175D | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TEKT2-R46C | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | COL8A2-T502M | homozygous | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SLFNL1-V344A | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 1 | SLFNL1-R144T | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 1 | TOR1A-D216H | het unknown | 0.103 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GP6-P404Shift | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GP6-K323T | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GP6-P219S | homozygous | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | TMEM61-E40K | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 1 | AK300656-R11* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | DL492456-R148H | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | DL492456-Y109C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | DL492456-W104* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | FAM151A-G546D | het unknown | 0.032 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.625 (possibly damaging) |
| 1 | FAM151A-G526A | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CPT2-F352C | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CPT2-V368I | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-I883M | homozygous | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-R219K | homozygous | 0.393 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GSTM1-K173N | homozygous | 0.264 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GSTM1-S210T | het unknown | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | FAM58A-Q15Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TAS2R38-I296V | het unknown | 0.463 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.984 (probably damaging) |
| 1 | TAS2R38-A262V | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 1 | TAS2R38-A49P | het unknown | 0.431 | Unknown benign | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | FMO3-V502G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | AGTR2-R251C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | F5-D2222G | het unknown | 0.045 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M1764V | homozygous | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-P1404S | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-N817T | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M413T | het unknown | 0.058 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATG9B-A790V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-HFN491PFS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | GLA-T158N | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CCDC11-R231C | homozygous | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 1 | MAGEE2-E120* | homozygous | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1 | AP1S2-T35A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | FLNA-T429M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | OPN1LW-I111V | homozygous | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | OPN1LW-S116Y | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | OPN1LW-S180A | homozygous | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | WDR8-I331M | homozygous | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | HRNR-H2772R | het unknown | 0.436 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Y2746H | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Y517C | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.875 | MTRR-I49M | het unknown | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.875 | MTRR-S202L | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.875 | MTRR-K377R | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.875 | MTRR-H622Y | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | COMT-V158M | het unknown | 0.448 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ADD1-G460W | het unknown | 0.157 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.75 | ADD1-S617C | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | KRT14-R282H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | KRT14-A274D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | KRT14-Y248* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | KRT14-E215G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | KRT14-L96F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | BLMH-I443V | het unknown | 0.285 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-R61H | het unknown | 0.283 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-A383T | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.75 | BANK1-C650R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-P844L | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | TPSG1-T239I | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TPSG1-T75K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | RDH12-R161Q | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC4-R415Q | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | GATM-Q110H | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN1-G2618R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPG11-F463S | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLA2G4E-N371S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PLA2G4E-A39Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PLA2G4E-C5R | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | homozygous | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SAMD11-H78Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | TMED3-D86N | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | PRX-G1132R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-P1083R | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-I921M | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPK3-P1046S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.883 (probably damaging) |
| 0.5 | ALPK3-P1299L | het unknown | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK3-L1622P | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.895 (probably damaging) |
| 0.5 | AHNAK2-Q5554T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AHNAK2-P5397A | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.149 (benign) |
| 0.5 | AHNAK2-Y5184D | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-M4536L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.267 (possibly damaging) |
| 0.5 | AHNAK2-G3654E | het unknown | 0.587 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.204 (possibly damaging) |
| 0.5 | AHNAK2-I2485M | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | AHNAK2-G1404Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AHNAK2-P1397L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AHNAK2-L1392V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AHNAK2-T11Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TRPM1-A695P | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.934 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRPM1-S32N | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRPM1-M1T | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A1-V189I | homozygous | 0.303 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A1-Q237K | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EID2-E60A | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GPR56-S281R | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-M487T | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | homozygous | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-R64Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FAM59A-V579I | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RAI1-G90A | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAI1-P165T | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-T796N | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-V1206A | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S3118N | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO5B-G1321E | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-R918H | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-T126A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KDM6B-S308L | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KDM6B-P482S | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNRF4-A157S | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | ZNRF4-V159A | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNRF4-R163C | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF532-E761D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | ALOXE3-R678C | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPC1-I858V | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPC1-M642I | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SGSH-R456H | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SGSH-A291G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRIP1-S919P | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EME1-E69D | het unknown | 0.922 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EME1-K137KQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | EME1-A466P | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | SCN4A-S524G | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AXIN2-P455L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AXIN2-P50S | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | AATF-E174K | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | ACOX1-I312M | homozygous | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAPT-Y441H | homozygous | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USP6-W475R | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-R912Q | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | USP6-R1101W | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FBN3-P1958H | homozygous | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN3-L1904F | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN3-N1869K | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FBN3-V1326I | homozygous | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN3-R1083W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FBN3-V938I | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FBN3-D868N | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN3-D662N | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CALR3-V274I | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NFATC3-S269T | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | NQO1-P187S | homozygous | 0.197 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging) |
| 0.5 | RFXANK-E48D | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RFXANK-DE121GQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CDH16-H257Y | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | COG7-T605M | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SH2B1-T484A | homozygous | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | THAP8-K112R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | THAP8-R70H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHODH-K7Q | homozygous | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | KIAA0513-R100H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | KIAA0513-L248Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ALOX15-T560M | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.388 (possibly damaging) |
| 0.5 | ZNF700-F287C | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-R119Q | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.214 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNASEH2A-L202S | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RASAL3-R594C | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | CYBA-Y72H | het unknown | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CPNE7-F77L | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | FANCA-G809D | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-G501S | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-T266A | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-G1405S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTHFD1-K134R | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFD1-R653Q | homozygous | 0.376 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | CACNA1S-R1539C | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM71A-T11M | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAM71A-N253S | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FAM71A-N551D | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USH2A-I2169T | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | het unknown | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-M268T | homozygous | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-H402Y | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-E936D | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | XCL2-R29K | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | XCL2-H28D | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | FMO2-S195L | homozygous | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FMO2-E314G | homozygous | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYOC-R76K | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-I2418T | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-E2893G | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-Q4437R | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | NCF2-K181R | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTR-D919G | het unknown | 0.217 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BMPR1A-P2T | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LIPM-W18R | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | LIPA-T16P | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | CC2D2B-Q401L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PDE6C-S270T | homozygous | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANXA11-R230C | homozygous | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CDH23-S494N | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | het unknown | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARMC4-R787C | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ARMC4-R666Q | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P2575R | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1971T | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-G1840S | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | het unknown | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PPYR1-R240C | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging) |
| 0.5 | PPYR1-V276M | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UNC5B-I242V | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | PCDH15-D440A | homozygous | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-S19A | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALDH9A1-S221T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HSPA6-A150T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HSPA6-ND153SN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HSPA6-L198F | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | HSPA6-L276P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HSPA6-T297K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HSPA6-G447V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | HSPA6-R471H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HSPA6-D562E | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.15 (benign) |
| 0.5 | STIL-A86V | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ORC1-T466M | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.904 (probably damaging), Testable gene in GeneTests |
| 0.5 | ALG6-S306F | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTH-S403I | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LEPR-K109R | homozygous | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR65-N241D | homozygous | 0.521 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | WDR65-C345S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | CLCNKA-Y315F | homozygous | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-R27L | het unknown | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-K578E | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OTUD3-N321S | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | OTUD3-A333T | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL9A2-Q326R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A2-Q326R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-C108Y | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-N467K | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA4-H423R | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DBT-S384G | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCHH-K1902Q | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TCHH-E1537* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | TCHH-R1526P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TCHH-L1258V | homozygous | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TCHH-K980Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TCHH-L63R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FLG-R3738H | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Q3568G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FLG-V3179G | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y3105D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G2545R | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H2507Q | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-L2481S | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H2209R | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y2194H | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-K2192Q | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y2119H | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S2045T | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1891Q | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1699C | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S1482Y | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1376G | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E755K | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-P478S | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-T454A | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G444R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G332V | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-M223K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | IL6R-D358A | homozygous | 0.316 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | RHBG-G315R | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RHBG-H428R | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GBA-K144R | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-R140W | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCHHL1-Q656* | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CGN-R394W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CGN-R485Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | CGN-Q638E | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AMY2B-G319R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPN22-W620R | homozygous | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTPN22-E131Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CASQ2-V76M | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.551 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASQ2-T66A | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDE4DIP-R2052Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | PDE4DIP-D1910E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-R1867C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PDE4DIP-R1852W | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.522 (possibly damaging) |
| 0.5 | PDE4DIP-A1757T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PDE4DIP-H1598R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PDE4DIP-R1504Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PDE4DIP-K1454E | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.931 (probably damaging) |
| 0.5 | PDE4DIP-W1396R | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-K1359E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
| 0.5 | PDE4DIP-L1272F | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | PDE4DIP-S1205P | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-A1066T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.123 (benign) |
| 0.5 | PDE4DIP-F1013I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-C708R | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PDE4DIP-R681H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PDE4DIP-R622* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PDE4DIP-S536T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | PDE4DIP-H482R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-E410V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PDE4DIP-S275L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.419 (possibly damaging) |
| 0.5 | PDE4DIP-R25L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTGFRN-S277T | homozygous | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTGFRN-R430Q | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.869 (probably damaging) |
| 0.5 | PTGFRN-E493V | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.482 (possibly damaging) |
| 0.5 | PTGFRN-V837I | homozygous | 0.396 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-V417I | het unknown | 0.192 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SCD-M224L | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT78-T306I | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) |
| 0.5 | KRT78-G46R | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.679 (possibly damaging) |
| 0.5 | TRPV4-I571M | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPV4-A217S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HNF1A-G31D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HNF1A-S574G | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF84-K550R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-H493Y | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | homozygous | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MLL2-P2557L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GSG1-F39L | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-N551K | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R1398H | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-K751Q | het unknown | 0.319 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VDR-M1T | het unknown | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PABPC3-RL206HF | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PABPC3-M251I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PABPC3-K254Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PABPC3-R287G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PABPC3-Q292* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | PABPC3-V293G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PABPC3-M326Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PABPC3-F335Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PABPC3-E345* | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COCH-T352S | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FBXO34-I470N | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBXO34-L533P | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBXO34-G704V | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | SYNE2-I574T | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SIX6-H141N | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | JPH4-A502Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RPGRIP1-P96Q | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-K192E | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-F1070S | het unknown | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R2066C | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2153S | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | B3GALTL-E370K | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SUCLA2-D367N | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.338 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLYBL-I241V | het unknown | 0.765 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.5 | CLYBL-R259* | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TEP1-S1195P | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-K368R | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S116P | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IRS2-G1057D | homozygous | 0.233 | Unknown protective | Low clinical importance, uncertain | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | A2M-I1000V | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | A2M-N639D | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | A2M-R360Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | SLC6A5-G102S | homozygous | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-P102S | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-R35T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OR5A1-I52V | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | F2-T165M | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-A1369S | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UBQLNL-M429T | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | UBQLNL-W379G | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UBQLNL-Y274H | homozygous | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | UBQLNL-C171R | homozygous | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | HPS6-G211A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CALHM1-L86P | homozygous | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADRB1-S49G | het unknown | 0.137 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADRB1-G389R | homozygous | 0.681 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMBT1-P42T | het unknown | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | DMBT1-S52W | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.959 (probably damaging) |
| 0.5 | DMBT1-S54L | het unknown | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.84 (possibly damaging) |
| 0.5 | DMBT1-N322D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.916 (probably damaging) |
| 0.5 | TACC2-E719D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | TACC2-W1103R | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | TACC2-E1916K | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TACC2-A2732T | het unknown | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RAB3IL1-H323Y | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | TMEM123-V86F | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.275 (possibly damaging) |
| 0.5 | ACAT1-A5P | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests |
| 0.5 | NPAT-N999K | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | NPAT-V575I | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L878R | homozygous | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BIRC3-K260R | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TYR-S192Y | het unknown | 0.271 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TM7SF2-A119V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TM7SF2-T299I | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SSH3-R600H | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | GSTP1-I105V | homozygous | 0.360 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYO7A-S1666C | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IGHMBP2-L201S | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T879K | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-E928K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZNF225-T679S | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KCNU1-L374Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | KCNU1-Y383Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | KCNU1-W768R | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B7-Y268H | homozygous | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PKD2-E181Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD2-A190T | het unknown | 0.003 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCG2-G354R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ABCG2-V12M | het unknown | 0.045 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KLHDC10-S2L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.774 (possibly damaging) |
| 0.5 | CNGA1-D187N | homozygous | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CC2D2A-E376A | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TLR10-I369L | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TLR10-M326T | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | OR2F1-R122C | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | OR2F1-H137R | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.179 (benign) |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HYAL4-M1V | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | MANBA-V253I | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | COL1A2-P549A | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB1-S893A | homozygous | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROT-V25A | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CROT-R245* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NEIL3-P117R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | NEIL3-P443L | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEIL3-Q471H | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEIL3-G520R | homozygous | 0.949 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PVRIG-P311Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBXL13-Y565C | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.554 (possibly damaging) |
| 0.5 | FBXL13-I74M | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF133-M1I | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.965 (probably damaging) |
| 0.5 | UGT8-P226L | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | UGT8-I368M | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WFS1-V333I | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | homozygous | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EVC-Y258H | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-K261N | homozygous | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | homozygous | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPOX-V294I | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | HGD-Q80H | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNB-D1157N | homozygous | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNB-V1471M | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LPL-D36N | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-Q939K | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-A499V | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN5A-H558R | het unknown | 0.246 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNA2-T125A | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERC2-N542S | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.212 (possibly damaging) |
| 0.5 | GTF2E1-P366S | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | IQCB1-C434Y | homozygous | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-G461D | homozygous | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX747124-C9Y | het unknown | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AX747124-MY26NC | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AX747124-C51Shift | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX747124-R83C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MLL3-C1114R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MLL3-G845E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) | |
| 0.5 | MLL3-S772L | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.45 (possibly damaging) |
| 0.5 | MLL3-I707T | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-M689I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-L687F | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | PIGX-P114L | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EIF2B5-I587V | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NAT2-R197Q | het unknown | 0.282 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | homozygous | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NAT2-G286E | het unknown | 0.023 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CASR-T445A | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | CASR-A986S | het unknown | 0.109 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-V246A | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-I93V | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-V72M | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MCCC1-H464P | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PIK3R4-V448I | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | AGA-P193F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EGFR-R521K | het unknown | 0.203 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NHLRC1-P111L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R141Q | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-S182W | homozygous | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIM1-A371V | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SIM1-P352T | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ZNRD1-Q14H | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.441 (possibly damaging) |
| 0.5 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | SIRT5-E305G | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.861 (probably damaging) |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL23A1-T287A | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | COL23A1-R267W | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | COL23A1-G102R | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | F13A1-V35L | homozygous | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | REV3L-R1970H | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | REV3L-T1224I | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LCA5-G656D | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-L-I30V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-W144* | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | HLA-L-C172Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TNXB-T3250M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TNXB-E2892K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TNXB-R2597Q | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-V2127M | het unknown | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-S921A | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R650H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R511H | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-V203M | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUL7-Q813R | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL11A2-E276K | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSPA1L-E602K | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | VARS-P1008L | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | VARS-P51S | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | LMBRD1-D469E | homozygous | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRIM2-E181K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-D204G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-S259G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-L286P | het unknown | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-Y287C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-H289R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-N298Shift | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | PRIM2-C302R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-G304* | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PRIM2-V310D | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-T323A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-D342G | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-Y345C | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-R349C | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-G434D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-H445Q | het unknown | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-S464P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCHCR1-S865C | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCHCR1-R716Q | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCHCR1-R506Q | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CCHCR1-R506W | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCHCR1-L268Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CCHCR1-W78* | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | CCHCR1-E41* | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | LY6G6F-P34Q | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | LY6G6F-A107T | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | SLC35B2-L342V | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RSPH4A-R556H | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-N627H | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NSD1-V614L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NSD1-S726P | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TXNDC3-C208R | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERAP2-L669Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | LNPEP-V359I | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-K121R | homozygous | 0.199 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH5-I4450V | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T4220A | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L1007F | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | homozygous | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | C5orf42-H3094Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | C5orf42-T2755Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GLI3-P998L | homozygous | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APC-V1822D | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APC-G2502S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GM2A-I59V | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-M69V | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NIPAL4-R213G | homozygous | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MSX2-M129T | homozygous | 0.753 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-G8323A | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | homozygous | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-A1353V | homozygous | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH11-E34L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1482A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH11-N2641S | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPINK5-Q267R | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | homozygous | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | homozygous | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | homozygous | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SOD2-V16A | homozygous | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF654-I294T | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.038 (benign) |
| 0.5 | ZNF654-S374A | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | PLEC-E2709Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-A2242V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | het unknown | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAB6C-R115G | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | EDAR-V370A | het unknown | 0.011 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.485 (possibly damaging) |
| 0.5 | EIF2AK3-A704S | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APLF-S246* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | APLF-D259Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MPHOSPH10-E69A | het unknown | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.668 (possibly damaging) |
| 0.5 | MPHOSPH10-E229D | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MPHOSPH10-L425M | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | MPHOSPH10-E634K | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | ALMS1-R392C | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-G1414A | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I1875V | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I2070T | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2111R | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2284P | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2826S | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-N2856S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOGS-P293S | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOGS-D239N | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOGS-V62M | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCT-N1639S | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-E612EPLSPE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | LCT-I362V | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NEB-I6534V | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R2437Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-A698T | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-V368M | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALDH1B1-A86V | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALDH1B1-V176I | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ALDH1B1-V253M | homozygous | 0.922 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SMARCAL1-R114H | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEUROD1-T45A | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TMEM43-K168N | homozygous | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM43-M179T | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN3A-G1862C | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.893 (probably damaging) |
| 0.5 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL15A1-M204V | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL15A1-M422I | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL15A1-A442T | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TTN-R32018H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-T30910I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R29962H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I28155V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I26820T | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I25199V | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T24045M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R22371C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V19783I | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T18827I | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-N16125D | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R11967C | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I9278V | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R8194Q | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-N7559S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S7181N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A7111E | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-E6900A | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-D6218H | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S3678N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R3598K | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S3419N | het unknown | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V3261M | het unknown | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-M2610I | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R1572Q | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-L1443P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R328C | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FSHR-S680N | homozygous | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FSHR-A307T | homozygous | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RABEPK-P129Q | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC16A2-S107P | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UBA1-R447H | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPRH-K823E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTPRH-K781N | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.042 (benign) |
| 0.5 | PTPRH-D232N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNC3-D63G | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-V693M | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-P635S | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMPK-L423V | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM83E-P311L | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | FAM83E-T91A | homozygous | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-S66N | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DHDH-V247A | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-E294Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-K2366Q | homozygous | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R1745H | homozygous | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK094748-D110A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TTF1-V303A | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TTF1-A290S | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SETX-S2612G | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | homozygous | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMT1-V305I | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALK-D1529E | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | homozygous | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-S1081R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CELP-K177E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CELP-Q180* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | CELP-L184P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TPO-A373S | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TPO-S398T | homozygous | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | ARSE-G424S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NT5C1B-R187Q | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | NT5C1B-S176* | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | C2orf71-T580M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-K421R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMP9-A20V | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MMP9-Q279R | het unknown | 0.346 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MMP9-R574P | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRDM15-S1481P | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRDM15-T1376S | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | PRDM15-P176S | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ITGB2-S490L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | VPS13B-V931I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | VPS13B-I935V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OBSL1-R1767Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | het unknown | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SON-E1256G | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | SON-M1502I | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SON-R2416Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | SALL4-L507R | het unknown | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNQ2-Y755C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | KCNQ2-P744A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | KRTAP26-1-P188T | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | KRTAP26-1-S26Y | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | KRTAP27-1-C95Y | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NBN-E185Q | homozygous | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAB36-R303W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.896 (probably damaging) |
| 0.5 | GGH-A31T | homozygous | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GGH-C6R | homozygous | 0.228 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PNPLA3-C99G | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PNPLA3-I148M | homozygous | 0.196 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | PNPLA3-K434E | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SCO2-R20P | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADRB3-W64R | het unknown | 0.085 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RRS1-R191L | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRIOBP-S217N | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-W1377R | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.5 | EP300-I997V | homozygous | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-S1400P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FERMT1-R526K | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PANK2-G126A | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | D2HGDH-R15G | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.37 (possibly damaging), Testable gene in GeneTests |
| 0.5 | D2HGDH-R55Q | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | D2HGDH-V338I | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.053 (benign), Testable gene in GeneTests |
| 0.5 | UBE2C-S23R | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.463 (possibly damaging) |
| 0.5 | COL6A3-A3012P | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-R1395Q | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A1124V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL4A3-L141P | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FARP2-V643I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.05 (benign) |
| 0.5 | FARP2-S896F | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.375 | JUP-M697L | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | JUP-T21I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ZFYVE26-N1891S | het unknown | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | ZFYVE26-C1457Y | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.375 | ZFYVE26-M645V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | TSC1-K587R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | TSC1-M322T | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | MICA-E24* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.375 | MICA-W37G | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-E196K | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-G198S | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-S229G | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-R233W | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.375 | MICA-I236T | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-T238S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-R274Q | het unknown | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.375 | MICA-C329R | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MICA-P330L | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | GLI2-A1156S | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | GLI2-D1306N | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | GLI2-ML1444IF | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | COL17A1-M703V | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL17A1-T210M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NGF-A35V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | NOTCH2-A21T | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOCK8-A22V | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | DOCK8-P97T | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.25 | PRG4-R180W | het unknown | 0.299 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | PRG4-T604A | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRG4-C746S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRG4-D1123A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LOXL2-M570L | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.333 (possibly damaging) |
| 0.25 | LOXL2-M286Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RP1-R872H | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-A1670T | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-S1691P | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCLO-A4434S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PCLO-D2926DD | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PCLO-A2804T | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCLO-V2475I | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCLO-K2442Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PCLO-S814T | homozygous | 0.692 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP3A7-R409T | het unknown | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-N2721S | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PRUNE2-LQAVT2714Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRUNE2-S2618G | homozygous | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-S2511P | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-A2184T | homozygous | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-T1972A | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-H1708N | homozygous | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-C1506R | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-A1145Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PRUNE2-T1004M | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRUNE2-N817D | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COL24A1-D1120Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COL24A1-R641H | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.154 (benign) |
| 0.25 | COL24A1-P546S | homozygous | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.075 (benign) |
| 0.25 | COL24A1-A61V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | INADL-I400V | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | INADL-I870M | homozygous | 0.987 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | INADL-G1178S | homozygous | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | INADL-I1283Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | INADL-V1360L | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-T49S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-I81V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-C194* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PGLYRP4-G192V | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PGLYRP4-A63Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PGLYRP4-I13L | homozygous | 0.809 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ATP6V0A4-V2A | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MAPK15-Q120Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MAPK15-L424P | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FAAH-P129T | het unknown | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | MEOX2-I287L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MEOX2-Q84Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ERCC6-R1230P | het unknown | 0.070 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-G399D | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PTF1A-S263P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | C10orf113-D100H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-M1028V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | TG-D1312G | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-D1838N | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.25 | TG-W2501R | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.25 | SYTL3-G171Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SYTL3-P346S | homozygous | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HEATR1-N1694S | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HEATR1-D1570E | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.181 (benign) |
| 0.25 | HEATR1-S1559N | het unknown | 0.135 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HEATR1-I1102T | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HEATR1-D957G | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | HEATR1-A580T | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HEATR1-Q424R | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) |
| 0.25 | HEATR1-H348R | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SARDH-M648V | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SARDH-R614H | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.25 | IKBKAP-P1158L | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-C1072S | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HIVEP3-R2316* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | HIVEP3-H575R | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NR5A1-G146A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BAAT-R20Q | het unknown | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.25 | GATA4-S377G | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT6C-R182Q | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6C-S143N | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | UMPS-G213A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DGCR2-V473A | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DGCR2-I360Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH9-I1626V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG1-D429E | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CETP-V422I | het unknown | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T539I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-G704E | het unknown | 0.894 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T879A | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | het unknown | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-R1163C | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | PCNT-I1639V | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-Q2659H | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | het unknown | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | COX10-R159Q | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH8-W1692R | homozygous | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH8-Y311H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | LRRC50-L633S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659P | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CBR3-C4Y | het unknown | 0.368 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | ZNF598-A608T | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF598-Y50* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | EFCAB6-A1059V | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EFCAB6-N847Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DNAH12-G2893S | homozygous | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH12-K2633Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SERPINA1-E400D | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-V74M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BAG3-P407L | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PARP3-F102Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PARP3-H107R | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCR2-V64I | het unknown | 0.114 | Unknown protective | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | FANCI-A86V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-C742S | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MLC1-C171F | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARSA-T391S | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CSPG4-R1703H | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | CSPG4-R969* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CSPG4-T174A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MYO15A-C1977R | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO15A-Y2682F | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CTLA4-T17A | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | AK304151-S34L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK304151-F47L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ZNF317-Q19H | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ZNF317-Q19H | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | STXBP2-I526V | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | THADA-C1605Y | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.387 (possibly damaging) |
| 0.25 | THADA-T1187A | het unknown | 0.156 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.384 (possibly damaging) |
| 0.25 | LHCGR-N312S | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GCKR-L446P | het unknown | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NOTCH3-A2223V | het unknown | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WDR62-L850S | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | WDR62-Q1310L | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | WDR62-L1387I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | WDR62-L1390F | het unknown | 0.749 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NPHS1-E117K | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | ZNF28-M471T | het unknown | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF28-H180Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | F2RL3-R4* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | F2RL3-P64L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CD226-S307G | het unknown | 0.451 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LMAN1-M410L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.25 | LRP2-I4210L | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | LRP2-K4094E | het unknown | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-A2872T | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-R2012K | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.25 | ERBB2-I655V | het unknown | 0.168 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.18 (benign) |
| 0.25 | ERBB2-P1170A | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | CASP10-L522I | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP8-M1T | het unknown | 0.031 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | CASP8-K14R | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ABCB11-V444A | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TBX4-G6A | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests |
| 0.25 | C2orf63-V426I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C2orf63-E25* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | EIF5B-K45Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EIF5B-K522T | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FADS6-W152* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | FADS6-P15PTEPMEP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RGPD5-V1227A | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RGPD5-D234Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TSHR-E727D | het unknown | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | OPA1-S158N | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSD17B4-R106H | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.25 | FBN2-V965I | het unknown | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL13-Q144R | het unknown | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ALG8-N222S | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG9-V289I | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DLAT-A43V | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-V318A | het unknown | 0.502 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-D451N | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TAS2R7-M304I | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.964 (probably damaging) |
| 0.25 | TAS2R7-R214* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | VCAN-K1516R | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | WDR36-I264V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FAM55B-V103A | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 0.25 | FGFR4-V10I | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-P136L | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-G388R | het unknown | 0.241 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.25 | ALDH3B2-H361R | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ALDH3B2-S220G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ALDH3B2-H203R | homozygous | 0.935 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ALDH3B2-S52N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ALDH3B2-P5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | USH1C-E819D | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-G355R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDHR5-C702S | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDHR5-P521Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CDHR5-R357S | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ACADSB-R13K | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.25 | BDNF-V148M | het unknown | 0.138 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RAG1-H249R | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DSP-Y1512C | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN1-P753S | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPING1-V480M | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | TRIM15-S324N | het unknown | 0.181 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ARSB-V358M | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.25 | PRSS12-R240* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PRSS12-R55T | homozygous | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | CLN5-R2C | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLN5-K368R | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRCA2-T1609I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | BRCA2-V2466A | homozygous | 0.977 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CENPJ-S879A | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CENPJ-P85T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-V174A | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PDGFRA-S478P | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TLR6-S249P | het unknown | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C14orf135-V177I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C14orf135-C387Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NIN-G1320E | homozygous | 0.792 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NIN-Q1125P | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NIN-P1111A | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | NIN-S1030Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PAX9-A240P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TLR1-S602I | het unknown | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANK2-V2369A | het unknown | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | SH2B3-W262R | het unknown | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRT6B-I365V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | AMACR-E277K | het unknown | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GHR-I544L | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | CD3EAP-K259T | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CD3EAP-K373E | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CD3EAP-D394N | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CD3EAP-Q504K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | NR3C2-V180I | het unknown | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BBS12-R386Q | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-M239K | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0 | MEFV-R202Q | het unknown | 0.178 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | SHH-V13Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | FUT6-R303G | het unknown | 0.074 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.725 (possibly damaging) |
| 0 | TMPO-Y622Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,741,620,419 bases (95.9% of callable positions, 89.0% of total positions)
Coding region coverage: 32,048,155 bases (96.3% of all genes, 97.0% 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