huE3654F - GET-Evidence variant report

Variant report for huE3654F

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
2C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Homozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
3MYO1A-G662EModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0257483Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.1
4FLG-S761ShiftModerateUncertainUncertain pathogenic

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

Recessive, Carrier (Heterozygous)
0.0118052Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect.1
6SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
7PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
8MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
9COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
10rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
11AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
12MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
13WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
14BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Homozygous
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
15RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
16H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
17SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
18TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
19HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
20rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
21ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
22CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
23NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
24TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
25IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
26ABCG5-R50CLowLikelyLikely protective

Unknown, Heterozygous
0.0684142This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.1
27KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
28LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
29TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
30CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
31NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
32PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
33MLH1-I219VLowUncertainUncertain benign

Dominant, Homozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
34AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
35APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
36PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
37PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
38GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
39ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
40SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
41TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
42TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
43TERT-A279TLowUncertainUncertain benign

Unknown, Heterozygous
0.0200037Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita.1
44TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
45TXNDC3-I338TLowUncertainUncertain benign

Unknown, Heterozygous
0.0377604Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31914360 / 33212919 = 96.09%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5151515151515229766138955553-955753, 957585-957648, 957659, 957667, 957673-957675, 957696-957734, 957747-957794, 957799-957842, 970657-970664, 970671-970704, 976045-976052, 976062, 976071-976147, 976156-976260, 976553-976702, 976730-976758, 976867-976883, 976887, 976907-976927, 976940-976946, 976949-976963, 976966, 976972-976976, 976989-976992, 976995-976996, 977020-977058, 977080-977082, 977375-977387, 977411-977426, 977457, 977470, 977485, 977503, 978713-978727, 978744-978747, 978752-978765, 978771, 978783, 978820-978821, 978918-978922, 978925-978926, 978963-978970, 979013, 979023, 979068-979070, 979095-979099, 979203-979206, 979260, 979362-979399, 979505, 979516-979521, 979531-979537, 979550-979555, 979584-979586, 979714-979759, 979779-979781, 979790-979819, 980603-980604, 980619-980621, 980739-980740, 980777-980807, 980894-980903, 981153, 981158-981161, 981410, 981445-981450, 981453-981458, 981464-981468, 981777-981799, 981825-981829, 981843-981875, 981886-981922, 981926-981927, 981931, 981945-981993, 982004-982006, 982021-982037, 982075-982089, 982200-982231, 982249-982308, 982707-982710, 982718-982745, 982820-982834, 982958-982983, 983009, 983167-983191, 983246-983253, 983392-983425, 983440-983446, 983460-983465, 983478, 983497-983500, 983503, 983527-983579, 983586-983745, 984247-984341, 984351-984380, 984403-984436, 984616-984636, 984656-984737, 984748-984769, 984831, 984961-984986, 985011-985026, 985043-985073, 985105-985108, 985112-985118, 985129, 985166-985175, 985291-985358, 985378-985417, 985613-985626, 985660-985689, 985843, 985853-985878, 985903-985906, 985909-985913, 985920, 985944-985971, 986106-986139, 986176-986217, 986633-986641, 986664, 986668-986739, 986833-986876, 986939-986975, 986984-986993, 987022-987025, 987108-987117, 987167-987195, 989135, 989145, 989215-989255, 989263-989270, 989828-989848, 989851, 989877-989918, 990204-990213, 990226-990270, 990310-990332, 990347-990351
2GABRD10.8565121412803519513591950863-1950930, 1956788, 1956804, 1956967-1956968, 1957104, 1957114, 1959704-1959705, 1960553-1960583, 1961008-1961017, 1961025-1961049, 1961056-1961077, 1961184-1961201, 1961459-1961466, 1961654-1961658
3PEX1010.897043832823651019812337205-2337206, 2337931-2337934, 2337946, 2337950-2337952, 2337955-2337957, 2340170, 2343840-2343926
4NPHP410.9560850268628818842816038330-6038473, 6046223-6046263, 6046335-6046337
5ESPN10.7415204678362666325656485022, 6485029, 6485031-6485035, 6485038-6485051, 6485058-6485063, 6485065-6485066, 6485076-6485082, 6485099-6485163, 6485204-6485223, 6485261-6485294, 6488319-6488346, 6488378-6488393, 6488426-6488432, 6500384-6500432, 6500449-6500489, 6500689-6500717, 6500788, 6500830-6500868, 6500994-6500995, 6501044, 6501058-6501103, 6505779, 6505795, 6505817, 6505847-6505855, 6505897-6505920, 6508729-6508730, 6508821-6508857, 6508885, 6508922-6508928, 6508985, 6509033-6509086, 6509100-6509106, 6509139-6509151, 6511907-6511942, 6512106-6512133, 6517244-6517263, 6517286-6517292
6PLEKHG510.9673878958921310431896529188, 6529712-6529721, 6530842-6530851, 6531073-6531085, 6533414, 6534082-6534083, 6534149, 6534153-6534157, 6534532, 6534535-6534542, 6534545-6534550, 6534565, 6534631-6534640, 6535144-6535145, 6535179, 6535524-6535544, 6537692, 6556583-6556585, 6556599, 6556606, 6556611, 6557380-6557383
7PEX1410.9241622574955986113410684437-10684453, 10684456, 10689588-10689593, 10689687-10689689, 10689693, 10689728-10689762, 10689794-10689798, 10689801-10689813, 10690002-10690006
8TARDBP10.9887550200803214124511082287-11082293, 11082356-11082362
9MASP210.92236778262979160206111094885-11094891, 11097834-11097844, 11102939-11102942, 11102950-11102953, 11102964, 11103028-11103029, 11103417, 11103434-11103438, 11103463-11103477, 11103499-11103505, 11103522, 11103571, 11103579, 11103584-11103592, 11105471, 11105491-11105528, 11106775-11106790, 11106979-11107004, 11107151-11107152, 11107174-11107176, 11107260-11107264
10MTHFR10.998477929984783197111855382-11855383, 11855386
11PLOD110.9903846153846221218412024815-12024816, 12026314-12026322, 12026325, 12026348-12026349, 12030819, 12030824-12030827, 12034853-12034854
12CLCNKA10.82558139534884360206416352664, 16353043-16353044, 16353923-16353930, 16354391-16354397, 16354606-16354614, 16355259, 16355731-16355745, 16355793-16355794, 16356514-16356537, 16356556-16356570, 16356956-16356991, 16357031-16357035, 16357037-16357041, 16357048-16357063, 16357098-16357132, 16357144-16357169, 16358264-16358289, 16358698-16358702, 16358731-16358736, 16358756-16358786, 16358938-16358970, 16359665-16359690, 16360106-16360111, 16360134-16360153
13CLCNKB10.93023255813953144206416373044-16373050, 16373124, 16377024-16377030, 16377479-16377485, 16378279-16378281, 16378697-16378732, 16378759-16378784, 16378858-16378887, 16380240-16380255, 16381960-16381962, 16382174-16382176, 16383364-16383368
14ATP13A210.980242732147970354317313390-17313396, 17313598-17313624, 17313731, 17320273-17320274, 17322584, 17322915, 17322919, 17323547-17323557, 17326538-17326556
15PINK110.9747995418098544174620960239-20960264, 20960267, 20960288-20960292, 20960338, 20960385, 20960412-20960413, 20960421-20960428
16HSPG210.961748633879785041317622149870-22149906, 22149917-22149922, 22149931-22149937, 22149940-22149942, 22149945, 22149969, 22150125-22150139, 22150799-22150801, 22150807, 22150817-22150825, 22151043-22151056, 22151252-22151259, 22151262-22151272, 22154396-22154398, 22154632-22154645, 22154763-22154770, 22154863, 22155465-22155509, 22155517-22155546, 22155975, 22155980, 22156542-22156581, 22163406, 22165412-22165421, 22165464, 22167616-22167665, 22169915, 22169918, 22170757, 22172629, 22173927, 22175150, 22175483-22175490, 22182049-22182054, 22182058, 22182366-22182369, 22186156, 22186162-22186169, 22186414, 22186464-22186470, 22186477-22186478, 22191807-22191809, 22199218-22199224, 22199515-22199545, 22211156-22211160, 22211163-22211167, 22211906-22211928, 22214124, 22214133, 22263648-22263710
17WNT410.9261363636363678105622456294, 22469339-22469415
18FUCA110.9507494646680969140124189720, 24194424-24194430, 24194452, 24194568-24194571, 24194602, 24194627, 24194700, 24194714-24194756, 24194767-24194776
19SEPN110.88908872901679185166826126722-26126904, 26139279, 26139283
20YARS10.9930686830497811158733252570-33252578, 33252658-33252659
21KCNQ410.93582375478927134208841249766-41249839, 41249847-41249863, 41249887, 41249890-41249910, 41249915, 41249923-41249926, 41249932, 41249949-41249963
22LEPRE110.999547715965631221143232430
23POMGNT110.9853756933938529198346660578-46660582, 46661568, 46662408, 46662412, 46662429-46662431, 46662436-46662443, 46663476-46663485
24STIL10.998707008016555386747725993-47725997
25CPT210.9944360141628711197753676934-53676944
26PCSK910.9841269841269833207955521669-55521677, 55521761, 55521833-55521848, 55523782-55523788
27ALG610.9928104575163411153063877660-63877667, 63881626-63881628
28COL11A110.99725123694338155457103352557-103352571
29GSTM110.53424657534247306657110230498-110230531, 110230792-110230796, 110230807-110230813, 110230839-110230841, 110230854-110230858, 110231302, 110231691, 110231707-110231740, 110231886-110231947, 110232908-110232910, 110232913-110232918, 110232923-110232927, 110232953-110232988, 110233076-110233142, 110233170-110233172, 110235884-110235917
30AMPD110.99331550802139152244115215835-115215836, 115215881-115215893
31NOTCH210.99096548004315677416120539739-120539784, 120572608-120572610, 120611992-120612009
32FLG10.9915476776628910312186152276930-152276936, 152277902-152277908, 152278431-152278437, 152279406, 152281589, 152282110-152282116, 152283736-152283743, 152284709-152284715, 152285037-152285041, 152285650-152285689, 152286722-152286732, 152287870-152287871
33GBA10.9991645781119511197155186729
34GBA10.98137802607076301611155207980-155208009
35PKLR10.9936231884058111725155269912, 155269988-155269997
36LMNA10.998236331569661567156104996
37LMNA10.9994987468671711995156104996
38F510.9994007490636746675169510380, 169510502, 169510515, 169510524
39DARS210.9963880288957771938173819598-173819604
40NPHS210.9965277777777841152179544864, 179544868-179544870
41LAMC210.9983249581239563582183212400-183212401, 183212405-183212408
42ASPM10.99952079739314510434197070971-197070975
43PKP110.9990829894543822181201282545, 201282629
44CD4610.97916666666667251200207925558-207925582
45PSEN210.97253155159614371347227071406-227071407, 227071478-227071483, 227071491-227071519
46ADCK310.99382716049383121944227169789-227169799, 227170595
47GJC210.809090909090912521320228345662-228345668, 228345794-228345812, 228345826, 228345913-228345915, 228346005-228346050, 228346058-228346090, 228346099-228346106, 228346239, 228346262, 228346311-228346318, 228346336-228346404, 228346466-228346487, 228346594, 228346717-228346749
48ACTA110.9947089947089961134229568088-229568093
49FH10.9973907371167641533241669368-241669369, 241682964-241682965
50DCLRE1C100.9980759980764207914970092-14970095
51PTF1A100.928064842958467198723481675-23481678, 23481695, 23481704-23481713, 23481737-23481776, 23482095-23482110
52MYO3A100.999587713873432485126500872-26500873
53RET100.9769805680119677334543572707-43572779, 43600521-43600524
54EGR2100.99790356394133143164573471-64573473
55CDH23100.99741447891806261005673464774, 73464812, 73464847-73464860, 73472422-73472426, 73571165, 73572548, 73572552-73572553, 73575032
56LDB3100.9885531135531125218488476086-88476104, 88476181, 88476192, 88476282-88476285
57GLUD1100.9731663685152145167788854456, 88854459, 88854476-88854518
58LGI1100.999402628434891167495553009
59HPS6100.9987113402061932328103825380, 103825455-103825456
60CYP17A1100.99279633267845111527104592345-104592355
61HTRA1100.862092862092861991443124221176, 124221182-124221219, 124221226-124221243, 124221253-124221281, 124221290-124221311, 124221330-124221392, 124221416-124221436, 124221477-124221478, 124221491, 124221494, 124221508-124221510
62HRAS110.79473684210526117570532669, 532672-532683, 532716-532755, 533471-533479, 533600, 533786, 533802, 533892-533905, 533909, 534224-534260
63TALDO1110.95956607495069411014747482-747494, 747562-747566, 755972-755974, 763344-763349, 763408-763411, 763420-763422, 763437, 763873, 763896, 763900-763903
64SLC25A22110.83950617283951156972791948, 792051-792068, 792142-792152, 792433, 792553-792557, 792617-792619, 792647-792662, 792666-792677, 792698, 792887, 792901, 792965-792969, 792972-792973, 793548-793549, 793552-793555, 794493-794495, 794782-794805, 794822, 794877-794901, 794987-795006
65PNPLA2110.843564356435642371515819719-819735, 819746, 819756-819905, 821806, 823769, 823793, 824011-824038, 824314-824330, 824426-824436, 824547, 824554, 824557, 824663, 824673-824675, 824723, 824783, 824826
66CTSD110.925746569814379212391775349, 1775354, 1780751-1780779, 1785022-1785026, 1785034-1785089
67TNNI2110.9143897996357475491861633-1861634, 1861636-1861669, 1861759-1861760, 1861798, 1861875, 1861882, 1862055, 1862058, 1862061, 1862073, 1862081, 1862262
68TNNT3110.287001287001295547771946329-1946346, 1947925-1947936, 1947939, 1950350-1950373, 1951040-1951058, 1954951-1955067, 1955161-1955226, 1955562-1955563, 1955575-1955675, 1955788, 1955799, 1955813-1955885, 1956059-1956115, 1956138-1956144, 1958193, 1958220-1958233, 1959668-1959673, 1959689-1959722
69H19110.973856209150332810712017755, 2017766-2017770, 2017829-2017847, 2017865, 2017987, 2018007
70IGF2110.589310829817162927112154217-2154268, 2154297, 2154310, 2154320-2154365, 2154389-2154432, 2154760-2154764, 2154798-2154833, 2154840, 2154862-2154895, 2156686-2156695, 2156727-2156728, 2161372, 2161386-2161425, 2161437, 2161449-2161465, 2161488
71TH110.34285714285714103515752185477-2185507, 2185518-2185520, 2185528, 2185532, 2185543-2185585, 2185603-2185619, 2186488, 2186502-2186519, 2186546-2186575, 2186593-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188200, 2188207-2188256, 2188688-2188702, 2189096-2189163, 2189321-2189327, 2189344, 2189359-2189366, 2189727-2189768, 2189784, 2189796-2189798, 2189801-2189843, 2189852, 2190880-2190885, 2190923-2190952, 2190981-2191039, 2191044, 2191064-2191101, 2191920-2191970, 2191981-2192000
72KCNQ1110.8537666174298429720312466329-2466572, 2466592-2466622, 2466631-2466641, 2466670, 2466673-2466675, 2466701, 2604703-2604707, 2604711
73CDKN1C110.277602523659316879512905246-2905286, 2905320-2905323, 2905349-2905364, 2905900-2906423, 2906434-2906501, 2906514-2906546, 2906640
74HBD110.9842342342342374445255652-5255658
75SMPD1110.994198312236291118966411931-6411941
76ABCC8110.9943109987357827474617498297-17498323
77WT1110.9562419562419668155432456341-32456343, 32456586-32456589, 32456619-32456621, 32456648-32456652, 32456694, 32456698, 32456707-32456719, 32456723, 32456732-32456738, 32456743, 32456828-32456856
78PEX16110.9817483189241119104145937360-45937361, 45939274-45939290
79MYBPC3110.998431372549026382547372127-47372132
80NDUFS3110.99874213836478179547602505
81ROM1110.999053030303031105662381049
82SLC22A12110.9741275571600543166264360933-64360934, 64361230, 64361233, 64367153-64367172, 64367175-64367177, 64367240-64367243, 64367246, 64367266-64367273, 64367277-64367278, 64367322
83MEN1110.9924242424242414184864572615-64572621, 64577491, 64577538-64577539, 64577542-64577544, 64577563
84PC110.998020921685047353766637786-66637789, 66637797, 66638850-66638851
85CABP4110.985507246376811282867222950, 67222960, 67223060-67223061, 67223122-67223125, 67223893, 67225930-67225931, 67225989
86AIP110.601208459214539699367256755-67256786, 67256792-67256852, 67256862-67256926, 67257533-67257575, 67257588-67257589, 67257606-67257643, 67257667-67257685, 67257787-67257795, 67257823, 67257831, 67257837-67257843, 67257878, 67257896-67257907, 67257916-67257928, 67258259-67258275, 67258306, 67258331-67258364, 67258372-67258387, 67258402, 67258413-67258422, 67258441-67258452, 67258464
87NDUFS8110.946287519747243463367799643, 67799775-67799803, 67800411, 67800464, 67800642, 67800645
88TCIRG1110.83674288006418407249367808826, 67810110-67810111, 67810188-67810229, 67810265-67810266, 67810271, 67810289, 67810293, 67810311-67810330, 67810432, 67810462, 67810465, 67810845-67810880, 67810933, 67811038-67811082, 67811286, 67811310-67811311, 67811314-67811315, 67811322, 67811326, 67811370-67811374, 67811602-67811621, 67811648, 67811652-67811653, 67811718, 67811772-67811773, 67812531-67812536, 67815134, 67816381, 67816548-67816581, 67816628, 67817145, 67817150-67817157, 67817165-67817174, 67817181-67817233, 67817243-67817255, 67817460-67817485, 67817629-67817666, 67817713-67817721, 67818084-67818096
89LRP5110.9812293729372991484868080183-68080273
90IGHMBP2110.9885982562038934298268671477-68671486, 68696755, 68701355-68701359, 68704080, 68704083, 68704087, 68704344-68704348, 68704526-68704535
91MYO7A110.756618531889291618664876841690-76841698, 76853765-76853789, 76853793-76853798, 76853822, 76853848, 76853852, 76853861, 76853864, 76858844-76858921, 76858971-76858996, 76867001-76867008, 76867117, 76867734-76867735, 76868012, 76868018-76868021, 76868028-76868029, 76868380, 76869323, 76869446, 76869453, 76870546, 76871275, 76873242-76873246, 76873345-76873346, 76873349-76873354, 76873357, 76873367, 76873943, 76874012-76874019, 76877177, 76883797, 76883816-76883825, 76883839, 76883845, 76883852-76883856, 76883884-76883905, 76885802-76885855, 76885866-76885873, 76885878, 76885902-76885943, 76886442-76886479, 76886496-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892439, 76892448-76892635, 76893002-76893200, 76893469-76893575, 76893582-76893645, 76894113-76894144, 76894152-76894202, 76895651-76895670, 76895759-76895760, 76900413, 76900499, 76901107-76901115, 76901147-76901152, 76901157-76901166, 76901180-76901184, 76901807-76901812
92FZD4110.9838909541511826161486666096-86666121
93TRPC6110.9982117310443552796101359760-101359764
94DRD2110.998498498498521332113283314-113283315
95APOA1110.988805970149259804116706610-116706617, 116706726
96FXYD2110.8835616438356251438117693028-117693030, 117693038, 117693192-117693194, 117693198-117693199, 117693207-117693208, 117693246-117693255, 117693286-117693306, 117693333-117693339, 117695379, 117695382
97TECTA110.9993812838360446465120979935-120979936, 120996275, 120996286
98WNK1120.999233716475111305977682
99WNK1120.9997202405930927149970297, 994811
100CACNA1C120.998475842097241065612622131-2622133, 2622136-2622137, 2622141-2622144, 2676941
101VWF120.991708126036487084426058308, 6122647-6122650, 6125328-6125344, 6125722-6125728, 6127919, 6131925-6131932, 6131955-6131982, 6132006, 6132009-6132010, 6132030
102TPI1120.968247506976731-6976748, 6976763-6976768
103DNM1L120.995929443690649221132866239-32866247
104LRRK2120.999736286919832758440761446-40761447
105COL2A1120.9932795698924730446448369791-48369792, 48372422-48372426, 48373330, 48373844-48373845, 48374434, 48374741-48374751, 48375170, 48376291, 48376889, 48377870-48377874
106MLL2120.985795112555682361661449422623-49422625, 49424177, 49424468-49424473, 49425082, 49425788, 49425824-49425826, 49426160-49426163, 49426589-49426647, 49426671-49426755, 49426792-49426793, 49426804, 49426906-49426908, 49427266-49427268, 49427320, 49431516-49431527, 49431536-49431557, 49431587-49431589, 49431748-49431755, 49431825-49431827, 49431903-49431904, 49432572, 49432629-49432630, 49433278-49433281, 49434033-49434038
107TUBA1A120.945175438596492545649522259-49522276, 49522341-49522347
108AQP2120.99509803921569481650349331-50349334
109KRT81120.9808959156785229151852681460-52681466, 52682999-52683005, 52684044-52684048, 52684053, 52684058, 52684899-52684906
110KRT86120.9787816563997331146152696044-52696051, 52696898-52696913, 52697952, 52699548, 52702189-52702193
111KRT6B120.93982300884956102169552841341, 52843376-52843382, 52844243, 52844246, 52844265, 52845515-52845534, 52845568-52845604, 52845662-52845687, 52845798-52845805
112KRT6C120.9681415929203554169552865042, 52865903, 52865906, 52865918, 52865925, 52867105, 52867187-52867193, 52867256-52867263, 52867321-52867346, 52867457-52867463
113KRT6A120.9427728613569397169552886553-52886559, 52886619-52886669, 52886708-52886714, 52886772-52886796, 52886908-52886914
114KRT5120.998871968415122177352908900-52908901
115AAAS120.995734308348577164153701653-53701656, 53703001, 53703026, 53708164
116RPS26120.99712643678161134856436209
117GNS120.994575045207969165965152979-65152987
118CEP290120.9981182795698914744088519091-88519101, 88522723, 88534804-88534805
119TRPV4120.99617737003058102616110221440, 110224516, 110230615-110230618, 110240823-110240826
120ATXN2120.859208523592095553942112036608-112036834, 112036860-112036969, 112036981, 112036987-112036988, 112036991-112036997, 112037000-112037106, 112037114, 112037129-112037178, 112037208-112037212, 112037215-112037223, 112037258-112037292, 112037298
121HNF1A120.9994725738396611896121416580
122HPD120.9923857868020391182122287661-122287668, 122295335
123SACS130.9995633187772961374023908427-23908432
124B3GALTL130.99398797595199149731774257-31774265
125FREM2130.999579390115674951039261568-39261570, 39261574
126SUCLA2130.9705459770114941139248570978-48571018
127ZIC2130.90681676047531491599100634397-100634414, 100634589-100634598, 100635008-100635010, 100637673-100637681, 100637721-100637748, 100637757-100637784, 100637790, 100637805-100637852, 100637933-100637936
128PCCA130.9995427526291712187101101528
129COL4A1130.999800399201615010110959344
130F7130.340074906367048811335113760156-113760219, 113765004-113765009, 113765019-113765020, 113765023, 113765034-113765091, 113765094, 113765104-113765129, 113768066, 113768086-113768090, 113768184-113768215, 113768249-113768270, 113769974-113770112, 113771150, 113771154-113771155, 113771165-113771187, 113771796-113771808, 113771885-113771910, 113772727-113772997, 113773008-113773011, 113773040, 113773081-113773083, 113773086, 113773090, 113773115-113773283, 113773307-113773315
131F10130.95841854124063611467113777170-113777176, 113777182, 113777206-113777221, 113798266-113798271, 113798277, 113798305-113798311, 113803304-113803306, 113803539, 113803589, 113803598, 113803621, 113803686, 113803694, 113803698-113803711
132GRK1130.96867612293144531692114321976, 114322093, 114324014-114324030, 114324121, 114325866-114325872, 114325946-114325971
133TEP1140.9965753424657527788420841303-20841306, 20844310-20844313, 20849771-20849777, 20851761-20851772
134PABPN1140.99782844733985292123790880, 23790901
135MYH6140.999484536082473582023869543-23869545
136FOXG1140.86462585034014199147029236624-29236626, 29236643-29236647, 29236670, 29236700-29236723, 29236756-29236805, 29236812, 29236815-29236907, 29236909, 29236929-29236949
137NKX2-1140.9784411276948626120636986876-36986901
138FANCM140.999837319017411614745623987
139C14orf104140.9952267303102612251450101017, 50101220-50101227, 50101269-50101271
140SYNE2140.9999517467670312072464443281
141ZFYVE26140.99986876640421762068241758
142VSX2140.99631675874774108674706461-74706464
143FLVCR2140.9468690702087384158176045496-76045529, 76045627-76045634, 76045712-76045718, 76045839-76045862, 76045893-76045899, 76045958, 76045962-76045964
144ESRRB140.9914865749836313152776964650-76964662
145POMT2140.9915667998224619225377786895-77786913
146AMN140.306167400881069451362103389030, 103389036-103389038, 103389047-103389054, 103390136-103390140, 103394763, 103394768, 103394784-103394792, 103394798-103394807, 103394826-103394850, 103395095-103395102, 103395115-103395152, 103395166-103395194, 103395205-103395300, 103395458-103395473, 103395483-103395595, 103395765-103395824, 103395833-103395852, 103395873, 103395992-103395995, 103395998, 103396003-103396005, 103396009-103396014, 103396037-103396074, 103396261-103396423, 103396502-103396664, 103396755-103396776, 103396797-103396830, 103396915-103396934, 103396947-103396962, 103396987-103397017
147INF2140.73210053750105167818, 105167830, 105167945-105167991, 105169522-105169532, 105169643, 105169672, 105169753-105169758, 105169761-105169773, 105170253, 105170265-105170271, 105170274, 105170279, 105172398-105172400, 105172403, 105172420, 105172497, 105173284-105173294, 105173336-105173344, 105173357, 105173368, 105173371, 105173590-105173631, 105173675-105173690, 105173734-105173735, 105173753-105173802, 105173811-105173817, 105173859, 105173863-105173869, 105173874-105173881, 105173885, 105173904-105174155, 105174168-105174249, 105174269, 105174304-105174339, 105174791, 105174799, 105174808, 105174859-105174860, 105174892-105174913, 105175057, 105176025, 105176468, 105176521-105176525, 105177274-105177275, 105177321-105177327, 105177437-105177477, 105177483-105177523, 105178006-105178036, 105178822-105178829, 105178834, 105179282-105179315, 105179586-105179639, 105179831-105179838, 105180604-105180605, 105180767-105180805, 105180949, 105180952, 105180966, 105180969, 105180999-105181035, 105181044-105181076, 105181130, 105181134, 105181639
148NIPA1150.8202020202020217899023086234-23086411
149UBE3A150.999619482496191262825616729
150CHST14150.9778956675508425113140763414-40763432, 40763454, 40763501, 40763517, 40763527-40763529
151STRC150.9864864864864972532843896303-43896312, 43900150-43900156, 43907745-43907751, 43910437-43910443, 43910863-43910903
152STRC150.996410256410267195044007207-44007213
153DUOX2150.999784807402631464745394001
154FBN1150.999535747446614861648760191-48760194
155CLN6150.99252136752137793668521869-68521875
156NR2E3150.992753623188418110472103857-72103864
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158PSTPIP1150.0927258193445241135125177310489-77310589, 77310798-77310811, 77310821-77310872, 77317625-77317657, 77317839-77317928, 77320200-77320223, 77320895-77320993, 77321870-77321915, 77322843-77322845, 77322859-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
159RPS17150.9828431372549740882823387-82823393
160RPS17150.98039215686275840883207729-83207736
161POLG150.99919354838713372089876828-89876830
162MESP2150.9631490787269744119490319820, 90319859-90319873, 90320036, 90320108-90320114, 90320125, 90320146, 90320149, 90320158-90320161, 90320164-90320173, 90320230-90320231, 90320243
163BLM150.9830747531734872425491312792, 91312795-91312800, 91337405-91337406, 91337444-91337466, 91337528-91337550, 91337576-91337587, 91341465, 91347480-91347483
164IGF1R150.9956140350877218410499192864-99192866, 99192878-99192892
165HBZ160.8344988344988371429203966, 204000, 204070-204095, 204271-204305, 204386-204393
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248SEPT9170.91425326519023151176175484918-75484929, 75486886-75486888, 75494605-75494740
249GAA170.9898565932144129285978078699-78078721, 78081474-78081479
250SGSH170.9622266401590557150978184256-78184267, 78184340-78184345, 78184459-78184461, 78184674-78184680, 78185949-78185953, 78188862-78188864, 78194067-78194087
251ACTG1170.68705673758865353112879477716-79477718, 79477757-79477758, 79477768, 79477954, 79477974-79477979, 79477992, 79478005-79478007, 79478019-79478021, 79478064-79478086, 79478112-79478113, 79478246-79478351, 79478448-79478472, 79478495-79478529, 79478542-79478564, 79478570-79478608, 79478930-79478935, 79478944-79478950, 79478961-79478991, 79478994, 79479016, 79479273, 79479313-79479343, 79479366-79479367
252FSCN2170.113590263691681311147979495558-79495583, 79495592-79495631, 79495654-79495672, 79495684-79495714, 79495728-79495909, 79495924-79495943, 79495953-79496193, 79496203-79496379, 79502078-79502111, 79502149-79502204, 79502219-79502234, 79503172-79503216, 79503235-79503293, 79503648-79503735, 79503745-79503815, 79503901-79504106
253LPIN2180.992196209587512126912922113-2922116, 2922122, 2924499-2924505, 2925310-2925314, 2951114-2951117
254AFG3L2180.9949874686716812239412370854, 12377071-12377081
255LAMA3180.99790041991602211000221269648-21269662, 21269712-21269717
256MYO5B180.9980169460969911554747364149-47364155, 47721150-47721153
257CCBE1180.9606879606879648122157134018-57134063, 57134096, 57134107
258TNFRSF11A180.9751485683414446185159992586-59992604, 59992606-59992624, 59992630-59992637
259CTDP1180.9819819819819852288677439974, 77439977-77439980, 77439984-77439993, 77440028-77440063, 77440247
260ELANE190.2226368159204625804852329-852343, 852393-852395, 852876-853032, 853262-853403, 855564-855576, 855583-855680, 855693-855753, 855967-856039, 856056-856058, 856062-856081, 856104-856106, 856114, 856120, 856130-856164
261KISS1R190.95822890559733501197917652, 918643-918668, 919964-919971, 920301-920314, 920338
262STK11190.4124423963133676513021207045-1207046, 1218416-1218461, 1218470-1218481, 1219323-1219341, 1219350, 1219371-1219377, 1219388-1219412, 1220372-1220412, 1220427-1220428, 1220441-1220504, 1220580-1220627, 1220634-1220639, 1220648-1220682, 1220692-1220716, 1221212-1221264, 1221273-1221288, 1221314-1221339, 1221957-1222004, 1222984, 1223018-1223079, 1223095, 1223107, 1223114, 1223125-1223171, 1226458-1226546, 1226560-1226646
263NDUFS7190.450155763239883536421383926-1383941, 1387810-1387813, 1387816, 1387820, 1387826, 1387833, 1387839, 1388524-1388527, 1388559-1388588, 1388888-1388924, 1388934-1388935, 1390870-1390884, 1390916, 1390921-1390927, 1390990, 1390996-1391008, 1391036-1391049, 1391120-1391156, 1393241-1393271, 1393278-1393318, 1395393-1395487
264GAMT190.425925925925934658101398675-1398818, 1398835-1398866, 1398875, 1398878, 1398882-1398895, 1398903-1398917, 1398930-1398946, 1398968, 1398971-1398973, 1398981-1398996, 1399004-1399008, 1399022-1399025, 1399140, 1399194, 1399530-1399532, 1399548-1399555, 1399559-1399563, 1399792-1399795, 1399803-1399866, 1399905-1399937, 1401311-1401317, 1401321-1401351, 1401370, 1401382, 1401394, 1401397-1401433, 1401447-1401448, 1401453-1401465
265RAX2190.472072072072072935553770619, 3770624, 3770666-3770709, 3770757-3770774, 3770794, 3770836-3770926, 3770939-3770943, 3770949-3770953, 3771526, 3771567-3771605, 3771623-3771686, 3771708-3771730
266MAP2K2190.8694929343308415712034090597-4090598, 4090634-4090679, 4097314-4097318, 4097323-4097325, 4097329, 4097334-4097337, 4099228-4099230, 4101130, 4123781-4123872
267NDUFA11190.96713615023474144265903627-5903640
268C3190.987780448717956149926707091-6707094, 6707154, 6707215-6707219, 6709709-6709713, 6709722, 6709785-6709795, 6710734-6710735, 6714014-6714037, 6714197-6714204
269INSR190.984574596288266441497132169-7132171, 7132229, 7132326-7132328, 7152764-7152789, 7152818-7152824, 7184337-7184344, 7184347, 7184508-7184509, 7293861-7293873
270PNPLA6190.97966867469888139847606920-7606927, 7614978-7614987, 7615286, 7615509-7615512, 7615880-7615903, 7615920, 7615923, 7615926, 7616248-7616257, 7616279-7616299
271STXBP2190.994388327721661017827702070-7702072, 7705681-7705683, 7708059-7708062
272TYK2190.87121212121212459356410463127-10463156, 10463209-10463213, 10463613, 10463617-10463625, 10463661-10463667, 10463709-10463717, 10463722-10463724, 10463751, 10464204-10464205, 10464229, 10464234, 10464241-10464242, 10464246-10464257, 10464284-10464285, 10464719-10464765, 10464794-10464812, 10464869-10464875, 10467311-10467312, 10468440-10468441, 10468474-10468519, 10468579-10468586, 10468685-10468709, 10468786, 10468803-10468814, 10469878-10469879, 10469890, 10469975, 10475440, 10475708, 10476197, 10476212-10476213, 10476220, 10476225-10476226, 10476285-10476286, 10476383-10476395, 10476397-10476408, 10476441-10476445, 10476449, 10488890-10488917, 10488924-10488959, 10488979-10489074
273DNM2190.997321086873337261310923042-10923048
274LDLR190.9899341850561426258311224046, 11224247-11224259, 11224263-11224265, 11224295-11224302, 11224311
275PRKCSH190.998109640831763158711558341-11558343
276MAN2B1190.95849802371542126303612763195, 12767813, 12767821, 12767827-12767829, 12767845-12767870, 12768284-12768305, 12768312-12768315, 12768345, 12769051-12769089, 12769276-12769283, 12769286-12769293, 12769313-12769324
277GCDH190.998481397114652131713006876-13006877
278CACNA1A190.94628373886451404752113318277-13318328, 13318356-13318387, 13318395-13318420, 13318498-13318524, 13318534-13318540, 13318549-13318609, 13318622-13318716, 13318742-13318761, 13318802-13318835, 13319572-13319604, 13319692-13319697, 13335485-13335488, 13335538-13335544
279NOTCH3190.98507034165949104696615302247-15302262, 15302836, 15311615-15311701
280JAK3190.9721481481481594337517940917-17940935, 17940938, 17949099-17949100, 17953159, 17953225-17953231, 17953240-17953275, 17953347-17953350, 17953363, 17953837-17953838, 17953841-17953843, 17954210-17954211, 17954698-17954709, 17955189-17955192
281SLC5A5190.9818840579710135193217983361-17983368, 17984986-17985012
282IL12RB1190.89492207139266209198918179248, 18179305-18179328, 18180502-18180503, 18184371, 18186584-18186603, 18186628-18186630, 18186633-18186648, 18187107-18187108, 18188326-18188331, 18188448-18188465, 18191720-18191736, 18191766-18191770, 18191773-18191776, 18191783-18191807, 18193066, 18197570-18197633
283COMP190.72383465259455628227418893752, 18893761, 18893869-18893909, 18895088-18895131, 18896308-18896338, 18896488, 18896493, 18896497-18896499, 18896529-18896564, 18896597, 18896604-18896623, 18896627, 18896814-18896847, 18896926-18896939, 18898300-18898326, 18899043, 18899047, 18899074-18899099, 18899106-18899128, 18899240, 18899248-18899252, 18899301-18899302, 18899401-18899428, 18899432, 18899443, 18899455-18899474, 18899484-18899486, 18899489, 18899538, 18899545, 18899548-18899559, 18899677, 18899990-18900005, 18900049-18900092, 18900104-18900106, 18900768, 18900776, 18900779-18900784, 18900788-18900789, 18900793, 18900816-18900855, 18900864-18900882, 18900916-18900923, 18901659-18901680, 18901699-18901725, 18902012-18902048, 18902062-18902078
284CEBPA190.64438254410399383107733792388-33792393, 33792480-33792484, 33792607-33792658, 33792691-33792695, 33792716-33792739, 33792751-33792784, 33792801-33792802, 33792805, 33792814-33792869, 33792896-33792933, 33792973, 33792979-33793041, 33793052-33793074, 33793137-33793154, 33793195, 33793210-33793237, 33793248-33793250, 33793279-33793284, 33793288-33793292, 33793295, 33793298, 33793311-33793320
285SCN1B190.959107806691453380735521725-35521757
286MAG190.9755449229133446188135790492, 35790595-35790598, 35790649, 35790714-35790740, 35791083, 35791086, 35791104-35791113, 35791158
287RYR1190.962624859429785651511738931417, 38931490, 39055618-39055630, 39055675-39055742, 39055745, 39055759-39055853, 39055870-39055925, 39055951-39055955, 39055963-39055991, 39056002-39056016, 39056026, 39056050, 39056053-39056080, 39056089-39056095, 39056126-39056182, 39056205-39056289, 39056297-39056299, 39056312-39056315, 39056324, 39056348-39056360, 39056363-39056366, 39061301, 39075613-39075660, 39075696-39075699, 39075707-39075726, 39076609, 39076614-39076616
288ACTN4190.92872807017544195273639138386-39138388, 39138467-39138493, 39138505-39138521, 39138534-39138547, 39214975-39214979, 39215118-39215131, 39216511, 39218647-39218649, 39219670, 39219771-39219794, 39219921-39219955, 39219976, 39219991, 39220017-39220065
289DLL3190.9946149703823410185739993560, 39993566-39993569, 39994815, 39997825-39997828
290PRX190.999772001823991438640909646
291TGFB1190.996589940323964117341837106, 41854269-41854270, 41858922
292BCKDHA190.92152466367713105133841925050-41925055, 41925171, 41929008-41929057, 41930447-41930494
293ATP1A3190.9912996193583532367842470744-42470752, 42470912, 42470968, 42470975, 42470979, 42471050, 42471321-42471324, 42471327-42471329, 42480568-42480578
294BCAM190.957074721780681188745312382-45312452, 45323962-45323970, 45324075
295BLOC1S3190.99835796387521160945683101
296ERCC2190.999561979851071228345873470
297SIX5190.90900900900901202222046268793-46268800, 46268973, 46268983, 46269117-46269121, 46269208-46269216, 46269870-46269877, 46269941-46269943, 46269975, 46270071-46270075, 46270154, 46270159, 46270164-46270168, 46270200-46270202, 46270213, 46271471-46271478, 46271573-46271580, 46271783, 46271808-46271820, 46271846-46271872, 46271901-46271902, 46271909, 46271912-46271916, 46271938-46271972, 46272031-46272060, 46272073-46272092
298DMPK190.9825396825396833189046274317-46274318, 46281447-46281451, 46282712-46282729, 46285603-46285610
299FKRP190.9798387096774230148847259062, 47259065-47259066, 47259253, 47259347-47259357, 47259640-47259641, 47259649, 47259666-47259677
300DBP190.6635991820040932997849134140-49134159, 49134187-49134227, 49136900, 49136903-49136907, 49138837-49138870, 49138896-49138956, 49138958-49138985, 49139002-49139025, 49139057, 49139069-49139116, 49139139-49139156, 49139168-49139209, 49140209-49140214
301BCAT2190.997455470737913117949303288, 49303466-49303467
302GYS1190.92547425474255165221449472664, 49489114, 49494560, 49494575-49494583, 49494633-49494674, 49494706-49494740, 49496255-49496330
303MED25190.9652406417112378224450321599-50321631, 50335399-50335409, 50339177-50339194, 50339544-50339559
304PNKP190.999361430395911156650370431
305MYH14190.98199967272132110611150753930-50753933, 50762421, 50764732-50764744, 50764780-50764826, 50764866-50764890, 50766631, 50770211-50770227, 50770255-50770256
306KCNC3190.79287598944591471227450823524-50823546, 50826314-50826352, 50826382-50826397, 50826439, 50826444, 50826474-50826479, 50826527-50826554, 50831484-50831491, 50831531-50831534, 50831547, 50831580-50831585, 50831681-50831684, 50831710-50831742, 50831767-50831801, 50831883-50831898, 50831947-50831951, 50831985-50832048, 50832085-50832126, 50832152, 50832202-50832339
307NLRP12190.96076585059636125318654301605, 54304520-54304524, 54304596-54304597, 54304628-54304651, 54308560-54308563, 54308670-54308704, 54310831-54310837, 54310898-54310906, 54312841-54312850, 54312871, 54312874-54312882, 54312886, 54312899, 54312906-54312909, 54313631, 54313670-54313672, 54313983-54313985, 54314505-54314509
308PRPF31190.34333333333333985150054621659-54621665, 54621681-54621742, 54621747, 54621759-54621783, 54621830-54621831, 54625264, 54625313-54625320, 54625886-54625892, 54625944-54625973, 54626903-54626912, 54626918-54626925, 54627128-54627174, 54627198, 54627233, 54627258-54627260, 54627264, 54627271-54627283, 54627878-54627902, 54627928-54627958, 54627979-54628035, 54629903-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863
309TSEN34190.948553054662384893354695330-54695332, 54695358-54695402
310TNNT1190.7959442332065916178955644283-55644307, 55645435, 55645473, 55645499, 55645506, 55645510-55645518, 55645522, 55649340, 55649343, 55649355, 55649435-55649441, 55652251-55652328, 55652598-55652602, 55652629-55652630, 55658049-55658075
311TNNI3190.886699507389166960955665458, 55665491-55665501, 55665549, 55665572, 55667610-55667631, 55667650-55667651, 55667654-55667655, 55667658-55667660, 55668458-55668483
312TPO20.9543183440399712828021520655-1520672, 1520682-1520730, 1520744, 1544379, 1544387-1544411, 1544427-1544430, 1544452, 1544460-1544467, 1546226-1546246
313KLF1120.9850552306692723153910183844-10183858, 10183878-10183885
314LPIN120.997007108118228267311911793-11911800
315MYCN20.9928315412186410139516082306-16082308, 16082953-16082959
316POMC20.978855721393031780425384420-25384436
317HADHA20.9882198952879627229226414415-26414441
318OTOF20.9934934934934939599426697382, 26697411, 26699864-26699869, 26705339, 26707344, 26739362-26739386, 26741974-26741977
319ALK20.999794365617931486329432685
320SPAST20.997298757428425185132289010, 32289077-32289079, 32289218
321CYP1B120.985906862745123163238301585, 38302199-38302205, 38302209, 38302225, 38302229, 38302233, 38302265, 38302409, 38302416-38302424
322SOS120.9965017491254414400239285827-39285840
323ABCG820.9856577645895229202244099140-44099147, 44099408, 44099422-44099423, 44100989-44100996, 44101102-44101108, 44101592-44101593, 44102364
324SIX320.997997997998299945169639-45169640
325MSH620.9892236100906244408348010461-48010474, 48010526-48010546, 48010571-48010579
326DYSF20.99984276729561636071839816
327SPR20.927480916030535778673114583-73114622, 73114778-73114780, 73114784, 73114787-73114799
328ALMS120.9994401791426771250473613032-73613034, 73679586, 73747037, 73786254, 73828342
329MOGS20.9657915672235586251474688858-74688863, 74688873-74688874, 74689271-74689272, 74690036-74690042, 74692263-74692303, 74692311-74692324, 74692348-74692361
330HTRA220.997821350762533137774757250-74757252
331GGCX20.987703118137928227785787991, 85788014-85788023, 85788102-85788108, 85788517-85788526
332REEP120.9983498349835160686564629
333EIF2AK320.998507908087145335188926730-88926732, 88926779-88926780
334TMEM12720.974895397489541871796931076-96931093
335RANBP220.951937984496124659675109347230-109347254, 109352023-109352052, 109357110-109357116, 109363178-109363220, 109365376, 109367720-109367744, 109367868-109367874, 109368074-109368111, 109369546-109369548, 109370344-109370363, 109370395-109370402, 109371495-109371521, 109378557, 109382635-109382673, 109382700-109382706, 109383137-109383143, 109383253-109383301, 109383354-109383376, 109383635-109383682, 109383761-109383808, 109384167, 109384469, 109384561-109384567
336PAX820.9992609016999311353113994206
337GLI220.938038227263182954761121708868-121708885, 121708908-121708922, 121708959, 121708967, 121708992-121708998, 121712898-121712929, 121712964-121712969, 121712996-121713000, 121726304, 121728154-121728155, 121728176-121728177, 121728181-121728182, 121729543-121729544, 121729592-121729639, 121745976-121745996, 121746081-121746088, 121746145-121746151, 121746312-121746352, 121746378-121746385, 121746499-121746503, 121746539-121746588, 121746600-121746605, 121747674-121747680
338CFC120.9107142857142960672131280363-131280385, 131280746, 131280779, 131280804-131280838
339LCT20.99723374827109165784136558199, 136558235, 136562359, 136566125, 136566522, 136566533-136566541, 136570418, 136570425
340NEB20.99989986983078219974152486053, 152499717
341SCN2A20.9998338318378216018166237674
342SCN1A20.99533099883275285997166848838-166848865
343SCN9A20.999494438827135934167083096-167083098
344HOXD1320.9970930232558131032176957711-176957713
345PRKRA20.997876857749472942179301044, 179315715
346DFNB5920.96317280453258391059179318251, 179318298-179318325, 179319062-179319064, 179319076-179319078, 179319206-179319209
347TTN20.9997406432048526100248179432140-179432144, 179455823, 179499242, 179510663-179510665, 179514902-179514917
348CERKL20.97686053783615371599182468645-182468681
349HSPD120.9959349593495971722198351835-198351841
350BMPR220.9987167147898643117203378482, 203384826-203384828
351NDUFS120.9972527472527562184207017191-207017196
352PNKD20.98963730569948121158219204788-219204791, 219205487-219205494
353WNT10A20.9992025518341311254219757870
354OBSL120.98910560534177625691220416359-220416365, 220416846, 220417327-220417333, 220417616, 220435632-220435633, 220435636-220435637, 220435692-220435694, 220435733-220435768, 220435952-220435954
355CHRND20.97619047619048371554233390932, 233390937-233390956, 233390962-233390963, 233393664, 233394649-233394661
356AGXT20.88719253604751331179241808288, 241808299-241808364, 241808399-241808400, 241808588-241808624, 241808681, 241810096-241810098, 241810116, 241813416-241813422, 241816963-241816970, 241817535-241817541
357D2HGDH20.870370370370372031566242689706-242689708, 242695402-242695429, 242707125-242707138, 242707156, 242707187-242707259, 242707272-242707354, 242707384
358AVP200.85656565656566714953063338-3063357, 3063360-3063363, 3063389-3063409, 3063630-3063655
359PANK2200.96263864565096417133869873-3869879, 3870021-3870022, 3870093-3870104, 3870212-3870244, 3870283-3870292
360PRNP200.9986876640419917624680112
361JAG1200.998632759092155365710653358-10653362
362SNTA1200.92555994729908113151832031117-32031131, 32031158, 32031162-32031177, 32031258, 32031309-32031362, 32031386, 32031394-32031410, 32031419-32031426
363GDF5200.9887118193891117150634025498-34025514
364SAMHD1200.999468367889421188135545397
365ADA200.995421245421255109243257771, 43280216-43280219
366CTSA200.995991983967946149744520238-44520243
367SALL4200.997469955724238316250406951-50406958
368GNAS200.956639566395663273857415184-57415187, 57415224, 57415230-57415238, 57415249, 57415807-57415823
369GNAS200.9938985228002619311457429069, 57429076-57429080, 57429199-57429208, 57429470, 57429628, 57429639
370COL9A3200.90267639902676200205561448417-61448494, 61448948-61448987, 61453488-61453501, 61455810-61455812, 61456320, 61456337, 61456340-61456365, 61457169-61457170, 61457577-61457578, 61458119-61458125, 61461869-61461874, 61461905-61461924
371CHRNA4200.234607218683651442188461978106-61978107, 61978133-61978135, 61978140, 61978164-61978184, 61978193-61978215, 61981006-61981023, 61981039-61981098, 61981104-61981108, 61981118-61981144, 61981156-61981197, 61981215-61981316, 61981327-61981452, 61981461-61981582, 61981592-61981634, 61981645, 61981656-61981687, 61981726-61981771, 61981777-61981783, 61981791, 61981820-61981984, 61982003-61982038, 61982043-61982059, 61982074-61982117, 61982124-61982126, 61982152-61982208, 61982302, 61982305-61982309, 61982331-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
372KCNQ2200.6590301641848893261962037997-62038027, 62038046-62038081, 62038189-62038195, 62038257, 62038262, 62038269-62038281, 62038291-62038293, 62038314-62038361, 62038375-62038378, 62038394-62038451, 62038485, 62038544-62038580, 62038587-62038590, 62038605-62038622, 62038653-62038659, 62039785-62039790, 62039862, 62039877-62039878, 62044854, 62046267-62046277, 62046303, 62046318-62046321, 62046346-62046349, 62059762, 62065175, 62065179-62065184, 62070951-62070981, 62071007-62071046, 62071054, 62073800-62073802, 62073840, 62076027-62076056, 62076073, 62076081, 62076106-62076118, 62076122, 62076129-62076187, 62076615-62076621, 62076628-62076673, 62076710-62076717, 62078114-62078161, 62103521-62103816
373SOX18200.35670995670996743115562679531-62679569, 62679584-62679587, 62679594, 62679615, 62679717, 62679745-62679773, 62679810, 62679824, 62679827, 62679831, 62679834-62679837, 62679845, 62679863-62679868, 62679892-62679912, 62679929-62679981, 62680022-62680032, 62680045-62680135, 62680152-62680190, 62680196-62680199, 62680202-62680210, 62680233-62680266, 62680274-62680294, 62680304-62680315, 62680512-62680869
374IFNGR2210.9664694280078934101434775861-34775894
375RCAN1210.98287220026351375935987060, 35987168, 35987202-35987205, 35987208-35987210, 35987253, 35987256-35987257, 35987309
376RUNX1210.9993069993071144336259306
377TMPRSS3210.9626373626373651136543795838-43795878, 43796667, 43805532-43805540
378AIRE210.40537240537241974163845705890-45706005, 45706012-45706021, 45706440-45706455, 45706475-45706516, 45706578, 45706581-45706601, 45706604, 45706861-45706884, 45706886-45706893, 45706922-45706944, 45706963, 45706974, 45707010-45707016, 45707404-45707441, 45708228-45708237, 45708263-45708307, 45708317-45708327, 45709548-45709549, 45709577-45709603, 45709623-45709664, 45709671-45709685, 45709879-45709912, 45709951, 45710978-45710992, 45711058-45711085, 45712274-45712284, 45712876-45712908, 45712983-45712992, 45713030-45713058, 45713672-45713793, 45714284-45714381, 45716266-45716328, 45717542-45717610
379ITGB2210.85930735930736325231046306776-46306786, 46306792, 46306795-46306797, 46306800, 46306806, 46306814-46306817, 46308616, 46308671-46308690, 46308702-46308720, 46308730-46308757, 46308766-46308767, 46308781-46308786, 46309192, 46309302-46309311, 46309315-46309324, 46309380-46309387, 46309399-46309410, 46309928, 46309969, 46309991, 46309996, 46310010-46310022, 46310123, 46311747-46311750, 46311758, 46311765, 46311781-46311785, 46311792-46311793, 46311798, 46311813, 46311835-46311836, 46313367-46313394, 46313442-46313448, 46320260-46320271, 46320374-46320380, 46326841-46326844, 46326878, 46326939-46326982, 46327009-46327010, 46330217-46330261, 46330666-46330667
380COL18A1210.558404558404562325526546875450-46875489, 46875669-46875670, 46875675-46875680, 46875702-46875716, 46875733, 46875736, 46875764, 46875810-46875883, 46875916-46875951, 46875968, 46876032, 46876056-46876069, 46876073, 46876120, 46876123, 46876129-46876134, 46876166-46876199, 46876222-46876235, 46876274-46876277, 46876288-46876297, 46876305-46876313, 46876369-46876400, 46876415, 46876425-46876480, 46876487-46876510, 46876517-46876586, 46876607-46876698, 46876713-46876719, 46876735, 46876738-46876785, 46888180, 46888189, 46888222, 46888236-46888260, 46888297, 46888326-46888339, 46888380-46888381, 46888385-46888391, 46888512-46888556, 46888564-46888569, 46888634-46888639, 46888653-46888658, 46888661-46888662, 46893882-46893885, 46896321, 46896338-46896348, 46896354-46896383, 46897789, 46897875, 46899843-46899878, 46900038, 46900644-46900649, 46900656-46900665, 46900694-46900698, 46906777-46906796, 46906805-46906852, 46906866-46906868, 46906882-46906887, 46906904-46906906, 46907361-46907376, 46908352, 46909400, 46909408-46909434, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912475, 46912601-46912627, 46913077-46913139, 46913415-46913453, 46913470-46913489, 46914467, 46914470-46914471, 46914476-46914477, 46914485, 46914776-46914829, 46915272-46915313, 46915328, 46915335-46915346, 46916414-46916417, 46916441-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924337, 46924362-46924452, 46924464-46924470, 46925048-46925106, 46925127-46925187, 46925272, 46925291-46925336, 46925752-46925779, 46925793-46925820, 46925848-46925880, 46927475-46927501, 46927505-46927506, 46929270-46929278, 46929291-46929309, 46929317, 46929336-46929355, 46929408-46929415, 46929422, 46929425-46929433, 46929467, 46929483-46929503, 46929986-46929987, 46930006-46930068, 46930088-46930152, 46931025-46931040, 46931066-46931113, 46932298-46932312
381COL6A1210.7207644962747862308747401765-47401861, 47402548-47402574, 47402583-47402584, 47402588-47402590, 47402604-47402677, 47404191-47404383, 47406460-47406461, 47406467-47406484, 47406497, 47406513-47406519, 47406544-47406599, 47406858-47406938, 47406949-47406951, 47406963-47406986, 47407069-47407072, 47407413-47407433, 47407524-47407568, 47408999-47409006, 47409034-47409043, 47409666-47409669, 47409689, 47410172-47410198, 47410292-47410336, 47410714-47410740, 47410931, 47412111-47412114, 47414140, 47417614-47417615, 47418834-47418852, 47422311-47422315, 47422532-47422572, 47423313, 47423494-47423498, 47423505, 47423508, 47423512
382COL6A2210.78202614379085667306047531393-47531394, 47531435-47531463, 47531493, 47531918-47531940, 47532282, 47532286-47532300, 47532445-47532448, 47536572, 47536576-47536577, 47537788-47537795, 47538573-47538575, 47538960, 47538970-47538984, 47539702-47539724, 47539736-47539753, 47540429-47540442, 47540975-47540982, 47541000-47541012, 47541472, 47541524, 47542022-47542036, 47542050, 47542058, 47542410-47542411, 47542796-47542802, 47542823-47542851, 47545181, 47545521-47545522, 47545528, 47545703-47545722, 47545755, 47545765-47545768, 47545817-47545820, 47545823, 47545826, 47545859-47545863, 47545872-47545879, 47545882, 47545965, 47546110-47546128, 47551870-47551896, 47551928-47551953, 47551969-47551970, 47551974, 47551980-47551981, 47551990-47552023, 47552057, 47552064-47552088, 47552097-47552138, 47552148, 47552153, 47552164-47552189, 47552201-47552227, 47552244-47552267, 47552282, 47552297-47552309, 47552333-47552396, 47552418-47552451, 47552458-47552466
383COL6A2210.3479532163742722334247552183-47552189, 47552201-47552227, 47552244-47552267, 47552282, 47552297-47552309, 47552333-47552396, 47552418-47552451, 47552458-47552501, 47552516-47552524
384FTCD210.142066420664211395162647556904-47556987, 47557153-47557162, 47557196-47557241, 47558422-47558448, 47558452, 47558469, 47558472-47558474, 47558478, 47558485-47558530, 47558552-47558560, 47558794-47558797, 47558818-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570067, 47570075-47570164, 47570302-47570356, 47570383-47570439, 47571472-47571651, 47571806-47571861, 47571871-47571894, 47572821-47572835, 47572847-47572949, 47574063-47574081, 47574087-47574093, 47574110-47574169, 47574175-47574204, 47574223-47574246, 47575384-47575413, 47575417, 47575425, 47575430, 47575434
385PCNT210.988013185495951201001147744174-47744196, 47766117, 47786623, 47786644, 47786647, 47801736, 47831443-47831456, 47831893, 47836552, 47836593, 47836712-47836725, 47847537-47847538, 47848364-47848366, 47848403-47848412, 47848492-47848504, 47850118-47850136, 47851753, 47852100-47852104, 47855985-47855991, 47856043
386PRODH220.90072102052135179180318901018, 18904414, 18908875, 18908902, 18923529-18923611, 18923623-18923626, 18923658-18923692, 18923725-18923728, 18923743-18923745, 18923755-18923800
387GP1BB220.08212560386473457062119711098-19711101, 19711377-19711520, 19711543-19711932, 19711956-19711987
388TBX1220.68145161290323474148819748428-19748599, 19748608-19748641, 19748662-19748705, 19748756-19748762, 19753433-19753480, 19753498, 19753501, 19753507-19753509, 19753516-19753517, 19753522-19753525, 19753912-19754049, 19754225-19754232, 19754285, 19754293-19754302, 19754306
389SMARCB1220.955958549222851115824129432-24129438, 24175820-24175863
390CHEK2220.9727427597955748176129083937-29083965, 29085163-29085171, 29091837-29091844, 29126408-29126409
391TCN2220.9852024922118419128431011719, 31018955-31018972
392DRG1220.99818840579712110431796679-31796680
393MYH9220.9942206357300734588336688095-36688096, 36696965-36696967, 36700165, 36702046-36702066, 36712646-36712652
394TRIOBP220.89729501267963729709838111791, 38111845, 38111904, 38119745, 38119749-38119757, 38119763, 38119766-38119767, 38119856-38119905, 38120010-38120016, 38120030-38120068, 38120079-38120085, 38120150-38120185, 38120196, 38120226-38120263, 38120304-38120346, 38120373-38120379, 38120392-38120432, 38120444-38120486, 38120521-38120566, 38120593-38120599, 38120707, 38120811-38120837, 38120863-38120869, 38121564, 38121984, 38122028, 38122122, 38122232, 38122356, 38122448-38122451, 38122455, 38122466, 38129328-38129344, 38129398, 38129401, 38130406-38130426, 38130472, 38130480-38130496, 38130507-38130539, 38130563, 38130589-38130593, 38130614-38130618, 38130657-38130673, 38130701, 38130704-38130733, 38130746, 38130835, 38130902, 38130906, 38130909, 38130912-38130954, 38130998-38131008, 38131014-38131020, 38131076-38131109, 38131164-38131171, 38131176-38131184, 38131221, 38131230, 38131238-38131240, 38131248, 38131338-38131358, 38131424, 38136929, 38136940, 38147779, 38147783-38147785
395SOX10220.997858672376873140138379566-38379567, 38379571
396PLA2G6220.09611451942740344248938508274-38508312, 38508511-38508584, 38509494-38509588, 38509600, 38509606-38509608, 38509611-38509699, 38509708-38509766, 38509788-38509869
397PLA2G6220.69475423378769739242138508168-38508312, 38508511-38508584, 38509494-38509588, 38509600, 38509606-38509608, 38509611-38509661, 38511534-38511569, 38511577-38511688, 38512082-38512112, 38512122-38512124, 38512147-38512184, 38512194-38512218, 38516766-38516783, 38516807-38516817, 38516889, 38516894, 38516915-38516916, 38519102-38519113, 38519142-38519148, 38519196-38519244, 38519260-38519265, 38522439, 38524356-38524362, 38524369-38524370, 38525559, 38530998-38531004
398TNFRSF13C220.3693693693693735055542321371-42321381, 42321429-42321436, 42321530-42321532, 42322105-42322118, 42322127, 42322147-42322335, 42322642-42322765
399CYB5R3220.984547461368651490643045305-43045318
400ATXN10220.99369747899169142846067949-46067955, 46067961, 46068054
401TRMU220.90758293838863117126646731666-46731686, 46731724-46731734, 46731740, 46746188-46746192, 46746283-46746294, 46746349-46746351, 46748197-46748210, 46748214-46748217, 46749698, 46751366, 46751372-46751384, 46751396, 46751438, 46751472-46751485, 46751905, 46751961-46751969, 46752849-46752853
402ALG12220.83640081799591240146750297988, 50297991, 50297999-50298016, 50301419-50301425, 50301556-50301568, 50302892-50302935, 50302984-50302991, 50303622-50303671, 50303722-50303724, 50303727-50303736, 50304082-50304096, 50304112-50304119, 50304162-50304189, 50304212, 50304249-50304253, 50307044-50307050, 50307279, 50307322-50307334, 50307345-50307346, 50307359, 50307372-50307375
403MLC1220.74779541446208286113450500012-50500057, 50500065-50500071, 50500077, 50502463-50502627, 50506890-50506938, 50508964-50508978, 50512750, 50515843, 50518789
404SCO2220.986267166042451180150962092, 50962176, 50962527-50962529, 50962578-50962582, 50962670
405TYMP220.48792270531401742144950964199-50964245, 50964255-50964347, 50964430-50964570, 50964675-50964725, 50964739-50964764, 50964794-50964799, 50964802, 50964811-50964866, 50964868, 50964872-50964884, 50964893-50964905, 50965005-50965016, 50965023-50965088, 50965112-50965160, 50965634-50965640, 50967596-50967624, 50967640-50967663, 50967677, 50967725-50967759, 50967945-50967948, 50967994-50968023, 50968037, 50968051-50968052, 50968059-50968060, 50968064, 50968108-50968138
406ARSA220.9927821522309711152451063667, 51063672, 51063675-51063680, 51063818, 51063821, 51066186
407SHANK3220.664569031273841759524451113070-51113132, 51113476-51113653, 51113664-51113679, 51115050-51115121, 51117013-51117121, 51117197-51117272, 51117283-51117348, 51117447-51117487, 51117497, 51117500, 51117510-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133225-51133257, 51133291-51133333, 51133369-51133380, 51133385, 51133437-51133476, 51135671-51135682, 51135699-51135719, 51135951-51136143, 51137118-51137120, 51143236-51143237, 51143276-51143278, 51144500-51144543, 51158628, 51158724-51158740, 51158760-51158791, 51158799-51158894, 51158928-51158931, 51158960-51158963, 51158967, 51159006-51159016, 51159022-51159031, 51159066, 51159074-51159076, 51159155-51159161, 51159172-51159173, 51159247-51159264, 51159325, 51159439, 51159463-51159466, 51159933, 51160821-51160822, 51169280, 51169289-51169290, 51169309-51169315, 51169385-51169387, 51169391, 51169407-51169442, 51169559, 51169562, 51169571-51169578, 51169592-51169640, 51169658, 51169674-51169686, 51169700-51169722
408FANCD230.9902626811594243441610088266, 10088299, 10088308, 10088340-10088346, 10107165-10107171, 10107584-10107590, 10114941-10114947, 10123030-10123031, 10123034-10123039, 10140462-10140465
409VHL30.904984423676016164210183626-10183644, 10183678-10183706, 10183723, 10183726-10183737
410CRTAP30.9701492537313436120633155635, 33155834-33155868
411SCN5A30.9971132620139217588938616794-38616805, 38616812-38616814, 38616828, 38616831
412TMIE30.803921568627459045946742921-46742930, 46742935-46742936, 46742966-46743023, 46743040, 46743056-46743070, 46750721-46750724
413TMIE30.853503184713386947146742978-46743023, 46743040, 46743056-46743070, 46750721-46750724, 46751074-46751076
414COL7A130.97849462365591190883548602590-48602593, 48602598, 48607329-48607336, 48610617, 48612666, 48612673, 48613721-48613722, 48616644, 48617075, 48617089, 48619365-48619368, 48621345-48621350, 48621386, 48623021-48623026, 48625233-48625244, 48625258, 48625265-48625272, 48625794, 48626372, 48626801, 48626826-48626868, 48627040-48627062, 48627073-48627108, 48627119-48627120, 48627135-48627151, 48627716-48627722
415SLC25A2030.976821192052982190648936173-48936191, 48936223-48936224
416LAMB230.999444135630913539749169123-49169124, 49169134
417AMT30.994224422442247121249456785, 49459581, 49459845, 49459880-49459883
418GNAT130.9620132953466340105350231533-50231572
419HYAL130.9885321100917415130850338146-50338147, 50339519, 50339622-50339631, 50339826, 50340031
420TNNC130.99794238683128148652485421
421TKT30.9807692307692336187253289852-53289887
422FLNB30.99974388526062780957994400-57994401
423PDHB30.998148148148152108058416399, 58416402
424ATXN730.91085271317829253283863898306-63898555, 63898567-63898569
425ARL13B30.90986790986791116128793761914, 93761917-93761923, 93761946-93761975, 93761983-93762015, 93762031-93762074, 93762084
426CPOX30.9890109890109915136598312141-98312154, 98312214
427NPHP330.98822940145254473993132438549-132438550, 132438624-132438637, 132441068-132441080, 132441120-132441137
428FOXL230.95667550839965491131138664603, 138664612, 138664757, 138664809-138664818, 138664841-138664847, 138664865-138664893
429ALG330.95292331055429621317183960402-183960407, 183961761-183961767, 183966607, 183966620-183966626, 183966643-183966681, 183966715-183966716
430CPN230.97985347985348331638194061906, 194061959-194061974, 194062088-194062091, 194062196-194062197, 194062237, 194062293, 194062317, 194062866-194062872
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432IDUA40.3965341488277311841962980873-981017, 981029, 981626-981650, 981683, 981698, 981706, 994418, 994435, 994460-994484, 994676-994682, 994729-994752, 994766-994777, 995339-995349, 995476-995518, 995534, 995550, 995554, 995561, 995577-995580, 995610-995635, 995641-995669, 995777-995825, 995843-995846, 995851-995874, 995902-995931, 995940-995949, 996057-996071, 996087-996110, 996155-996268, 996520-996732, 996824-996945, 997133-997258, 997337-997362, 997372-997375, 997378-997388, 997808, 997870-997871, 997896, 998048-998057, 998062, 998075-998095, 998102-998106, 998126-998132, 998152, 998170-998171
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434SH3BP240.976305869682284418572819970, 2819974-2819976, 2820047, 2820050-2820066, 2820092-2820104, 2831387, 2835520-2835527
435HTT40.9568352953653640794293076596-3076603, 3076604-3076769, 3076771-3076772, 3076779, 3076789-3076792, 3076808-3076809, 3201606, 3208331-3208335, 3209043, 3210583-3210618, 3213808-3213812, 3213815, 3213832, 3215742-3215746, 3224194, 3225250, 3231747, 3231750-3231755, 3235048-3235053, 3237024, 3240190-3240199, 3240217, 3240293-3240328, 3240334-3240336, 3240545-3240561, 3240630-3240633, 3240652-3240653, 3240657, 3240665-3240668, 3240672, 3240704-3240705, 3241575, 3241689, 3241717-3241786
436DOK740.5828382838283863215153465103-3465104, 3465132-3465153, 3465233-3465242, 3465250-3465277, 3475169-3475170, 3478069-3478133, 3478142-3478157, 3478189-3478191, 3478215, 3487290, 3487293, 3487346, 3491500, 3494486-3494496, 3494573-3494583, 3494610-3494621, 3494629-3494638, 3494641-3494652, 3494665-3494706, 3494713-3494859, 3494881-3494888, 3494908, 3494916, 3494953-3494998, 3495015-3495192
437DOK740.385786802030463635913494489-3494496, 3494573-3494583, 3494610-3494621, 3494629-3494638, 3494641-3494652, 3494665-3494706, 3494713-3494859, 3494881-3494888, 3494908, 3494916, 3494953-3494998, 3495015-3495079
438EVC40.973816717019137829795713108-5713134, 5713167-5713212, 5733231, 5733246, 5754633-5754635
439PKD240.9907120743034127290788928897-88928902, 88928910-88928920, 88928928, 88928953-88928958, 88929050-88929052
440MTTP40.9996275605214212685100530012
441CISD240.9117647058823536408103808506-103808522, 103808569-103808587
442CFI40.98801369863014211752110723104-110723124
443CTSO40.990683229813669966156874963-156874971
444GLRB40.9993306559571611494158041708
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446SLC6A1950.4829396325459398519051201766-1201967, 1208861-1208867, 1208878-1208922, 1208942-1208952, 1208971, 1208977-1209001, 1210559-1210696, 1212461, 1212472-1212475, 1212484-1212528, 1212555-1212584, 1213578-1213688, 1214068-1214180, 1216673-1216676, 1216704-1216718, 1216725-1216734, 1216744, 1216775, 1216794-1216801, 1216973-1216979, 1216995, 1217039-1217041, 1217046, 1219027-1219052, 1219078-1219114, 1219188-1219222, 1219620-1219634, 1219661-1219708, 1219721-1219760
447TERT50.67725801706384109733991253844-1253861, 1253922, 1253930-1253932, 1254483-1254487, 1254542, 1254562-1254566, 1258713-1258743, 1264553-1264593, 1264699, 1266585-1266586, 1266589-1266617, 1268635-1268697, 1268716, 1268728-1268748, 1271251-1271319, 1272300-1272379, 1272389-1272395, 1278784, 1278796, 1278799-1278811, 1278889-1278890, 1279406-1279415, 1279430-1279485, 1279492-1279497, 1279500, 1279505-1279516, 1279527-1279533, 1279543-1279549, 1279557-1279560, 1279563, 1279572-1279585, 1280277-1280344, 1280351-1280403, 1280412-1280443, 1293707-1293708, 1293803-1293809, 1293889, 1293984-1294001, 1294180-1294184, 1294240, 1294288-1294298, 1294317-1294340, 1294405-1294421, 1294471-1294477, 1294506-1294508, 1294542-1294546, 1294564-1294614, 1294635-1294704, 1294714, 1294756-1294781, 1294886-1294915, 1294924-1294975, 1294995-1295023, 1295034-1295104
448SLC6A350.977455716586154218631409229-1409235, 1409923-1409928, 1422101-1422129
449SDHA50.9938837920489323271593246, 1593266
450NDUFS650.82666666666667653751801532-1801588, 1801594-1801601
451NIPBL50.999286987522286841537036492, 37048669-37048673
452GHR50.9655712050078266191742629140-42629205
453ERCC850.999160369437451119160200657
454SMN250.99774011299435288569362949, 69372353
455SMN250.99887005649718188570238373
456RASA150.999363867684482314486669980-86669981
457GPR9850.99947148670789101892189971944-89971953
458LMNB150.932424758659851191761126113201-126113208, 126113233-126113248, 126113393-126113435, 126113442-126113488, 126113538-126113541, 126113545
459SLC22A550.99223416965352131674131705676-131705682, 131705875-131705878, 131705881-131705882
460MYOT50.97394789579158391497137221851-137221878, 137221893-137221902, 137222993
461DIAPH150.9992144540455633819140953564-140953566
462TCOF150.97819100091827954356149737375-149737406, 149737417, 149748279, 149748375-149748380, 149751669, 149751672, 149751701, 149754345, 149755089-149755092, 149755463-149755466, 149758905-149758911, 149759096, 149759255-149759285, 149759294-149759295, 149769542, 149771712
463NIPAL450.97430406852248361401156887205-156887239, 156887362
464MSX250.9564676616915435804174151703, 174151707-174151735, 174151773, 174151825-174151826, 174151876, 174151885
465F1250.9003436426116858582176829368, 176829371, 176829379, 176829402, 176829631-176829652, 176830255-176830274, 176830317-176830328
466F1250.727813852813855031848176829368, 176829371, 176829379, 176829402, 176829631-176829652, 176830255-176830274, 176830317-176830328, 176830482-176830523, 176830530-176830576, 176830596-176830603, 176830860-176830918, 176830933-176830974, 176830993-176831013, 176831023-176831091, 176831221-176831246, 176831305-176831311, 176831357-176831376, 176831506-176831513, 176831541-176831543, 176831567-176831588, 176831606-176831646, 176831826, 176832055-176832081, 176832987, 176832995
467GRM650.915717539863332222634178409999-178410000, 178413647, 178413660, 178413673, 178413685-178413702, 178413859-178413860, 178415937, 178416136, 178421471-178421494, 178421550, 178421583-178421596, 178421660-178421704, 178421718-178421724, 178421740-178421773, 178421804, 178421877-178421945
468SQSTM150.916099773242631111323179247983-179247986, 179248014-179248105, 179248128-179248141, 179250947
469FLT450.2785923753665729524092180038370-180038376, 180038475-180038479, 180041091-180041105, 180043380-180043382, 180043384-180043391, 180043433-180043472, 180043927-180043937, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047286, 180047306-180047308, 180047609-180047648, 180047665-180047715, 180047881-180047993, 180048001-180048002, 180048006-180048007, 180048106-180048120, 180048137-180048197, 180048210-180048252, 180048542-180048573, 180048595-180048795, 180048825-180048842, 180048853-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
470FOXC160.8387484957882126816621610724, 1610761-1610785, 1610788-1610789, 1610802-1610826, 1610851-1610858, 1610924-1610929, 1611100, 1611103, 1611184-1611199, 1611327-1611348, 1611455-1611468, 1611503, 1611515, 1611519-1611523, 1611552-1611586, 1611651-1611678, 1611689-1611718, 1611780-1611821, 1612142-1612146
471TUBB2B60.928998505231699513383224998-3225041, 3225215-3225222, 3225443-3225444, 3225468-3225489, 3225715, 3225782-3225798, 3226002
472ATXN160.997549019607846244816327865-16327867, 16327916-16327918
473ZFP5760.997517070142774161129640283, 29640322-29640324
474HLA-H60.965333333333332675029855849, 29855856-29855858, 29855862-29855864, 29856303, 29856311-29856314, 29856318, 29856330, 29856397, 29856406, 29856424-29856427, 29856445, 29856679, 29856686, 29856693, 29856711, 29856718
475TNXB60.94401244167963108192931976890, 31977092, 31977122, 31977388-31977394, 31977525-31977534, 31977646, 31977863, 31977871, 31977995-31978001, 31978498-31978517, 31978597-31978599, 31978951, 31979038, 31979420-31979423, 31979444-31979467, 31979502-31979526
476CYP21A260.9341397849462498148832006215-32006217, 32006317, 32006337, 32006971-32006977, 32008666-32008703, 32008732-32008768, 32008869-32008879
477TNXB60.988294445753791491272932009206, 32009550, 32009621-32009630, 32009857, 32010108-32010129, 32010594-32010608, 32010729-32010735, 32011088, 32011232-32011251, 32012271-32012314, 32012356-32012362, 32013968-32013969, 32025883-32025885, 32025918, 32025966-32025970, 32029180-32029182, 32029186, 32029205, 32032668, 32032892-32032894
478HLA-DQA160.981770833333331476832609952, 32609969, 32609974, 32610009, 32610532-32610541
479HLA-DQB160.8218829516539414078632629224-32629234, 32629955, 32632575-32632670, 32632687-32632689, 32632700-32632709, 32632714, 32632718, 32632721, 32632727-32632730, 32632733-32632742, 32632745, 32634306
480SYNGAP160.979662698412782403233388042-33388108, 33411507-33411521
481MOCS160.78806907378336405191139883822-39883827, 39893422-39893537, 39893546-39893589, 39895079-39895317
482PRPH260.996157540826134104142672158-42672161
483PEX660.9942235813795417294342934379, 42935247, 42935260, 42935270-42935276, 42936149, 42946381, 42946478, 42946483, 42946641, 42946660-42946661
484RSPH960.8712394705174510783143612847-43612914, 43612992-43613012, 43613044-43613061
485RUNX260.9559386973180169156645390442-45390469, 45390483-45390523
486RIMS160.999803110848591507972892369
487SLC17A560.9852150537634422148874345126-74345147
488OSTM160.96716417910448331005108395754-108395758, 108395820-108395847
489GJA160.9939077458659771149121768922-121768928
490ENPP160.9809215262779532778132129176, 132129179, 132129207-132129222, 132129249-132129273, 132129284-132129293
491SYNE160.99988633780405326394152623093-152623095
492TBP60.98627450980392141020170871031-170871034, 170871037, 170871043-170871046, 170871064, 170871067, 170871070, 170871073, 170871076
493LFNG70.4438596491228163411402559496-2559927, 2564329-2564360, 2564878, 2564883, 2564886-2564893, 2564947, 2565048-2565063, 2565104, 2565112-2565114, 2565117, 2565127, 2565153-2565161, 2565175-2565178, 2565187-2565188, 2565191, 2565339-2565391, 2565884, 2565905, 2565908-2565910, 2565915, 2565935, 2566013-2566039, 2566477, 2566481-2566507, 2566540, 2566543, 2566823-2566825, 2566839
494PMS270.9339513325608317125896013099, 6013150-6013157, 6017219-6017220, 6027170-6027177, 6029436-6029474, 6038778, 6042123-6042146, 6043321-6043329, 6045523-6045535, 6045568-6045592, 6045629-6045662, 6048628-6048634
495TWIST170.7881773399014812960919156619-19156637, 19156686-19156691, 19156700-19156708, 19156752-19156761, 19156797, 19156811-19156871, 19156901-19156923
496DNAH1170.9997789566755131357221582969-21582971
497KLHL770.999432140829071176123164712
498HOXA1370.77463581833762263116727239146, 27239169-27239170, 27239199-27239210, 27239259-27239284, 27239317-27239344, 27239361-27239367, 27239370, 27239376-27239377, 27239380-27239381, 27239384, 27239393-27239418, 27239421-27239463, 27239494, 27239501-27239585, 27239592-27239612, 27239655-27239659
499PGAM270.958005249343833276244104440, 44104455-44104457, 44104564-44104565, 44104569-44104571, 44104577, 44104724, 44104727-44104737, 44104832-44104840, 44104917
500GCK70.998572448251252140144191874-44191875
501CCM270.91086142322097119133545039939-45039962, 45113077-45113106, 45113152-45113153, 45113869, 45113896-45113898, 45113904-45113914, 45113917-45113927, 45113991-45113992, 45115406-45115428, 45115508-45115512, 45115593-45115598, 45115631
502GRB1070.994957983193289178550742235-50742243
503EGFR70.9942196531791921363355086992-55087004, 55087032-55087037, 55087041-55087042
504GUSB70.996421267893667195665439665-65439671
505ASL70.84516129032258216139565546830, 65546842-65546844, 65546981, 65547424, 65548069-65548073, 65548114-65548130, 65551752-65551758, 65553816-65553821, 65553838, 65553862-65553873, 65553878, 65553885-65553888, 65553903-65553908, 65554079-65554123, 65554125-65554127, 65554292-65554303, 65554612-65554615, 65554620-65554627, 65554670-65554682, 65556993-65557011, 65557582, 65557603, 65557607-65557619, 65557647, 65557773-65557796, 65557855-65557860, 65557894
506KCTD770.906896551724148187066094115-66094195
507NCF170.900606060606068282572637917, 72639944-72639963, 72639983-72639989, 72640033-72640039, 72643624, 72644230-72644259, 72645864, 72648736-72648750
508FKBP670.9989837398374198472742434
509ELN70.94942528735632110217573442518-73442545, 73442555-73442574, 73442577-73442579, 73442599, 73466254-73466302, 73477677, 73477958-73477964, 73480278
510NCF170.9207161125319793117374193662-74193678, 74202416-74202432, 74202903-74202919, 74202973-74203011, 74203460, 74203466-74203467
511POR70.68575624082232642204375608769-75608773, 75608782-75608784, 75609677-75609683, 75610366-75610381, 75610439-75610440, 75611612-75611634, 75612911-75612918, 75613059-75613091, 75613148-75613174, 75614095, 75614121-75614147, 75614165-75614220, 75614234-75614276, 75614376-75614422, 75614429-75614460, 75614470-75614482, 75614486-75614488, 75614491-75614494, 75614502-75614503, 75614923-75614966, 75614987-75615041, 75615075-75615077, 75615100-75615110, 75615133-75615167, 75615241-75615316, 75615326-75615329, 75615375-75615386, 75615496-75615512, 75615704-75615725, 75615749-75615759
512HSPB170.98705501618123861875932265-75932272
513AKAP970.99829409757762201172491630298-91630299, 91699440-91699451, 91706250-91706255
514TFR270.9987531172069832406100238695, 100238698, 100238702
515CFTR70.972766148998421214443117188713-117188753, 117188760-117188800, 117188842-117188877, 117235019-117235021
516IMPDH170.98722222222222231800128045871-128045874, 128049810-128049819, 128049884-128049892
517FLNC70.979579359256541678178128470692-128470706, 128470724, 128470728-128470734, 128470822-128470903, 128470918, 128471005-128471015, 128471019-128471029, 128471037-128471043, 128477252, 128477256-128477264, 128477273-128477277, 128477302-128477311, 128477574, 128477767-128477770, 128480611, 128480647
518ATP6V0A470.9972255251684572523138437403-138437409
519BRAF70.9960886571056192301140624404, 140624407-140624408, 140624411-140624414, 140624419, 140624423
520KCNH270.947701149425291823480150642464-150642468, 150642499-150642501, 150644718-150644740, 150645553, 150647484, 150648789, 150648906-150648910, 150648915-150648923, 150655150, 150655156, 150655197, 150655201, 150655208-150655210, 150655215-150655217, 150655230-150655232, 150655267, 150655446, 150655550, 150655553-150655554, 150655587-150655590, 150671854-150671887, 150671904, 150671924, 150674926-150675001
521SHH70.579553635709145841389155595594-155595912, 155595918-155595950, 155595953, 155595977-155595984, 155596007-155596073, 155596076, 155596092, 155596100-155596126, 155596133, 155596146-155596167, 155596173, 155596206-155596217, 155596245-155596249, 155596289-155596290, 155596295, 155596303, 155596312, 155596335-155596376, 155599039-155599046, 155599087, 155599112-155599141
522MNX170.534825870646775611206156798251-156798268, 156798297-156798302, 156798415-156798464, 156798548-156798551, 156799262-156799269, 156802434-156802436, 156802470, 156802475-156802481, 156802517-156802520, 156802527-156802529, 156802534-156802547, 156802572-156802574, 156802579-156802584, 156802603-156803036
523MCPH180.994816586921851325086289095-6289107
524GATA480.998495109104592132911566229-11566230
525SFTPC80.90235690235695859422021029-22021043, 22021402-22021426, 22021461-22021470, 22021474-22021480, 22021554
526CHRNA280.996855345911955159027321218-27321222
527ADAM980.999593495934961246038854657
528THAP180.99221183800623564242693220, 42698176-42698178, 42698210
529HGSNAT80.9659329140461265190842995640-42995651, 42995654-42995655, 42995661-42995662, 42995669-42995671, 42995674-42995695, 42995707-42995730
530CA280.99616858237548378386376331-86376333
531TMEM6780.998995983935743298894827555-94827557
532GDF680.999269005847951136897157223
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554LMX1B90.97765862377122251119129376846-129376867, 129377668-129377670
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556ENG90.9984825493171531977130616597, 130616623, 130616627
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579TSPAN7X0.99866666666667175038420807
580BCORX0.9956340167046323526839930236, 39930240-39930242, 39930250-39930254, 39930304, 39931903-39931907, 39931910, 39932050-39932054, 39932296, 39933275
581NYXX0.9854771784232421144641333277-41333279, 41333284-41333290, 41333337-41333347
582MAOAX0.996212121212126158443571980-43571982, 43572041-43572043
583CACNA1FX0.9976407145264614593449061659-49061663, 49067106-49067110, 49067118, 49076225-49076227
584ARX0.9721317408613877276366765155-66765231
585EDAX0.9880952380952414117669247790-69247803
586TAF1X0.9924322421682543568270586184-70586225, 70586332
587ATRXX0.999064045995457747977041468-77041474
588BRWD3X0.9950083194675527540980064942-80064961, 80064964-80064970
589ZNF711X0.997375328083996228684525775-84525780
590PCDH19X0.9948578342407717330699663355, 99663562-99663577
591XIAPX0.97523427041499371494123040945-123040981
592OCRLX0.9988913525498932706128674441-128674442, 128674447
593ZIC3X0.9943019943019981404136648985-136648987, 136649382, 136651142-136651143, 136651201-136651202
594FAM58AX0.9714285714285721735152864475-152864480, 152864483-152864493, 152864512-152864515
595SLC6A8X0.895702306079661991908152954030-152954088, 152954104-152954226, 152954234-152954236, 152954253, 152959470-152959472, 152959697-152959698, 152959701, 152959840-152959846
596ABCD1X0.9977658623771252238152991258-152991262
597AVPR2X0.97043010752688331116153171010-153171012, 153171404-153171409, 153171480-153171482, 153171485-153171492, 153171748-153171759, 153171765
598MECP2X0.95925183700735611497153363062-153363122
599OPN1MWX0.849315068493151651095153453337-153453343, 153453443-153453450, 153453474-153453496, 153455583-153455601, 153455668-153455674, 153457286-153457309, 153458979-153459010, 153459039-153459083
600OPN1MWX0.860273972602741531095153490455-153490461, 153490561-153490568, 153490592-153490614, 153492701-153492719, 153492786-153492792, 153494404-153494427, 153496109-153496128, 153496157-153496201
601FLNAX0.8721047331319210167944153577217, 153577398, 153577401-153577403, 153577802-153577804, 153577812-153577814, 153577921-153577922, 153577926, 153578069-153578074, 153578228-153578231, 153578523-153578558, 153579281-153579290, 153579993-153579999, 153580253, 153580262-153580265, 153580315-153580351, 153580590, 153580637-153580638, 153580641, 153580765-153580775, 153580928-153580931, 153580937-153580944, 153581031-153581035, 153581038-153581042, 153581369-153581376, 153581423-153581429, 153581477, 153581508-153581509, 153581666, 153581714, 153581723, 153581738, 153581741, 153581750-153581757, 153581773-153581816, 153582851, 153583066-153583072, 153583209, 153583292-153583312, 153583407-153583410, 153585634, 153585816-153585829, 153585914-153585936, 153585940, 153585952, 153586577-153586582, 153586609-153586617, 153586635, 153586643-153586646, 153586826-153586839, 153587364-153587406, 153587627-153587672, 153587755, 153587864, 153587976-153588011, 153588154, 153588162, 153588165-153588167, 153588183, 153588202-153588204, 153588400-153588403, 153588419-153588420, 153588451-153588486, 153588519-153588523, 153588569, 153588607-153588611, 153588616, 153588627, 153588816, 153588850, 153588855-153588864, 153589682-153589756, 153589773, 153589814, 153589841, 153590051, 153590127-153590152, 153590347-153590349, 153590406, 153590436-153590452, 153590480-153590487, 153590611-153590630, 153590826, 153590829-153590832, 153590880, 153590936-153590938, 153591029-153591045, 153591065-153591073, 153591082, 153591089, 153591107, 153592412-153592424, 153592531-153592533, 153592949, 153593023, 153593209, 153593504-153593530, 153593627, 153594392, 153594407, 153594467, 153594511-153594521, 153594825-153594831, 153594937, 153594945-153594948, 153595114, 153595788, 153595798-153595800, 153595869, 153596026-153596037, 153596043, 153596084-153596089, 153596258, 153596276, 153596341, 153596345-153596351, 153596458, 153599241-153599252, 153599279, 153599284, 153599357, 153599360-153599363, 153599381-153599504, 153599521-153599535, 153599540-153599549, 153599552-153599554, 153599562, 153599588
602EMDX0.9307189542483753765153608062-153608113, 153608610
603TAZX0.8681875792142104789153640181-153640199, 153640202-153640203, 153640225-153640258, 153640273-153640289, 153640441-153640466, 153640546-153640551
604GDI1X0.97767857142857301344153665602-153665631
605G6PDX0.97008547008547491638153760249-153760260, 153760275-153760305, 153762696-153762701
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4C3-P314Lhomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
4C3-R102Ghomozygous0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MYO1A-G662Ehet unknown0.026Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
2SP110-M523Thomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2BRCA2-N372Hhomozygous0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-S2697Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ABCG8-D19Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A4481Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1.5FLG-S761Shifthet unknown0.008Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.5BARD1-C557Shet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.464 (possibly damaging)
1.5BARD1-V507Mhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
1.5BARD1-R378Shet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CEP290-R1746Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.871 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GALC-D248Nhomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GALC-A21Phomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
1CELA1-Q243Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CELA1-R44Whet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CELA1-Q10Hhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.463 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT5-D197Ehomozygous0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1SLC22A1-R61Chet unknown0.057Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M408Vhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M420Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ALX4-P102Shomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-A141Thomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HLA-DQB1-Q253Hhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R252Hhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R162Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-T60Shet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1UMOD-V458Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PKD2-R28Phomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PAX3-T315Khet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP2B6-R487Chomozygous0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COMP-N386Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1ABCG5-R50Chet unknown0.068Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1NR_027251-H75ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP1B1-N453Shomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-P491Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GAA-V816Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GAA-T927Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT39-L383Mhomozygous0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
1KRT39-T341Mhomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.158 (benign)
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-I81VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-C194*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1CHAT-L243Fhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MCPH1-P288Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
1MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CACNA1S-L1800Shet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-G258Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-G158Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M2148Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-V367Ahet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-S11Phet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75ANKK1-Q38Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625CDK5RAP2-R415Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-I2486Mhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-V2214Ihomozygous0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-C1468Yhomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-S920Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPATCH8-C1161Whet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NSF-V361Mhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5NSF-T476Mhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.513 (possibly damaging)
0.5BRCA1-S1634Ghomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5MSH6-G39Ahet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MSH6-G39Ahet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PPOX-R304Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5APOH-W335Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5APOH-R154Hhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5APOH-I141Thet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZSCAN10-L654Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETV3L-M318Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.761 (possibly damaging)
0.5ETV3L-G263Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.759 (possibly damaging)
0.5MYH2-V970Ihet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.315 (possibly damaging), Testable gene in GeneTests
0.5MYH8-R1784Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5HYDIN-K4411Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-H4269Yhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4041Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T3115Rhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-K2143Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-M15Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5DARS2-G338Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB1-V952Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC135-D51Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5CCDC135-C186Shet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC135-P433Lhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC135-C766Rhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AQP8-A212Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.313 (possibly damaging)
0.5AQP8-A260Phet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC50-D387Ehet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-L481Mhomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRPL38-D371Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5MRPL38-R99Whet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ATP6V1B1-T30Ihomozygous0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNN-A70Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TNN-R79Ghet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNN-W807Rhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.104 (benign)
0.5TNN-P930Lhet unknown0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5TNN-T941Mhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5FMO3-E158Khomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-V6Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC4A5-H253Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYBBP1A-F35Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYBBP1A-Q8Ehet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC38A10-E676Dhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5SLC38A10-K559Rhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.813 (possibly damaging)
0.5ST6GALNAC1-I424Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.221 (possibly damaging)
0.5ST6GALNAC1-V80Ahet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RIMS3-G234Shet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5NAPSA-A310Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAPSA-I40Thet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTAFR-N114Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-T245Mhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P52Lhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-A373Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5HS1BP3-A388Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5HS1BP3-P348Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5HS1BP3-V260Mhomozygous0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF154-R192*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-K421Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FCGBP-P4788Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-E2640Ahet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-R2467Hhet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATP4A-V265Ahet unknown0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP4A-P240Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRIN3B-R404Whomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5GRIN3B-W414Rhomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-G466Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-T577Mhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GRIN3B-Q1006Ehomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5TOR1AIP1-M146Thet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOR1AIP1-P276Rhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5TOR1AIP1-Q293Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-I393Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R372Qhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.528 (possibly damaging)
0.5CROCC-P511Shet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
0.5CROCC-D586Hhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TXNDC2-P231Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5TXNDC2-P234Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TXNDC2-A461Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5PGLYRP4-G192Vhomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PGLYRP4-Q92Rhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.719 (possibly damaging)
0.5PGLYRP4-I13Lhomozygous0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCSK4-T267Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5THADA-C1605Yhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.5THADA-T1187Ahomozygous0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.5ZNF792-N425Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLF1-F182Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.815 (possibly damaging)
0.5KLF1-S102Phet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5H6PD-D151Ahet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.5H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ICAM1-V330Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ICAM1-K469Ehomozygous0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMCN1-T1056Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5FAM181B-R367Phet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM181B-P340Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5FAM181B-S251Rhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.774 (possibly damaging)
0.5FAM181B-V186Lhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1462-S1002Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.474 (possibly damaging)
0.5KIAA1462-R957Ghet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KIAA1462-G46Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA1462-E24Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAT3-R894Qhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAT3-Q1726Rhomozygous0.796Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5FAT3-I2755Vhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT3-V3518Lhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT3-S3812Ghet unknown0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FXYD4-C63Yhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RIN1-R238Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5SSH3-R600Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5TMEM123-V86Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5ATM-D1853Nhomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-P1542Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL2A1-G1405Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADCY6-R138Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWF-V1565Lhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.038 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-S317Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5B4GALNT3-G59Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT3-R992Hhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1975Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5YIF1A-P37Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCC2-I1036Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNMBP-C1413Whet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.566 (possibly damaging)
0.5DNMBP-M831Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.987 (probably damaging)
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-L281Phet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDHR1-P812Shet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LIPA-T16Phomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5PDE6C-S270Thomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUZD1-I285Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ACADSB-R13Khomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.5NELL1-R82Qhomozygous0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NELL1-R354Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BDNF-V148Mhomozygous0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPS5-L417Mhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRIM22-D155Nhet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5TRIM22-R242Thet unknown0.511Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIM22-R321Khet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIFM2-R253Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.862 (probably damaging)
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2T3-T202Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR2T3-M204Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFHR2-C72Yhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P982Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-Y1638Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D5547Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-I6547Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAD51L1-L172Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.721 (possibly damaging)
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP8-D443Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5CHRNA3-R37Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EFTUD1-V1010Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.246 (possibly damaging)
0.5EFTUD1-P881Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EFTUD1-E478Dhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK3-Q602Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5ALPK3-P1299Lhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFA-T171Ihet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NM_032802-N126Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SCG3-S125Nhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.655 (possibly damaging), Testable gene in GeneTests
0.5VPS13C-S2913Nhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-I1132Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5VPS13C-R974Khomozygous0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-R153Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SOS2-A208Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NVL-V404Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR5-L769Fhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging)
0.5TLR5-F616Lhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5PRSS38-M204Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRSS38-I224Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5KRT6B-I365Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6C-V481Ihomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RRP15-K149Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5NCOR2-P2008Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NCOR2-A2007Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TBC1D4-T1147Mhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.06 (benign)
0.5TBC1D4-V819Ihomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBC1D4-P619Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USH2A-R5031Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-P3893Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R3317Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R244Whet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZAP70-I342Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR133-S523Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GOLGA3-K1185Rhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5GOLGA3-P264Lhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5GOLGA3-G70Ehet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPATCH2-M474Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5BCKDHA-P39Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GPX5-L85Phet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFP57-R313Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F13A1-V35Lhomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NQO2-L47Fhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NQO2-G58Dhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TCOF1-A665Phet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HK3-Q600Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5HK3-Q578Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5PSORS1C1-E34Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5EFHC1-R294Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EFHC1-I619Lhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5KIAA1586-F75Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5COL9A1-S339Phomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CAPN11-L142Phet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CAPN11-V266Mhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CAPN11-S728Nhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1064Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT8-P226Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5UGT8-I368Mhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5PRSS12-R55Thomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5MMAA-Q363Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS12-R386Qhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CLNK-P31Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5UGT2A1-L197Shet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.791 (possibly damaging)
0.5UGT2A1-Y192*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UGT2A1-Y188Hhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5UGT2A1-R75Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FGA-T331Ahomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RGPD4-D761Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RGPD4-Q1169Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-H1002Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-H1002Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-I1647Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM144-I239Fhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SDHA-D38Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-L72Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IFNA1-V10Ahet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5INVS-S242Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5IPPK-L376Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5PLEC-A3171Vhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-S2791Phet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-H1459Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A641Vhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JRK-L543Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-R499Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-T30Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MATN2-V932Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5VPS13B-V2559Ahet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IKBKAP-I830Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OPHN1-V39Ihet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
0.5ATP7A-V767Lhet unknown0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBMX-Y357Hhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RBMX-R324Phet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5RBMX-P301Shifthet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5H2BFWT-R123Hhomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.5H2BFWT-R87Whet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-V829Lhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-P17Lhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SETX-S2612Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH1-K2160Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOTCH1-R1279Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTF1-V303Ahet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE7A-G50Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I338Thet unknown0.038Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5THSD7A-R841Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5THSD7A-D771Ehet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5THSD7A-N583Dhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknown0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLG-D472Nhomozygous0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELN-G581Rhet unknown0.073Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R356Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-L329Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADAM3A-N302Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-S296Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R215GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-F185Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GGH-T151Ihet unknown0.083Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RP1-R872Hhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-A1670Thomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-S1691Phomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACHE-H353Nhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FLNC-R1241Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5TTN-R32283Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R328Chet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR5H14-M59Vhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR5H14-G64Rhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5OR5H14-Y189Chet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N2632Dhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5LRP2-G669Dhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5G6PC2-Y207Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RETNLB-S5Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.342 (possibly damaging)
0.5GUCA1C-A119Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GUCA1C-V72Ihet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A14-L238Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A14-V284Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-S292Ghomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGFBP5-R138Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOL6-N173Khet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BMPR2-S775Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-H1300Rhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5ABCB11-M677Vhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NRIP1-V645Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TNIP2-A396Vhet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5TNIP2-E255Khet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNIP2-R73Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5TNIP2-S7Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5UMPS-G213Ahomozygous0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RANBP2-D2031Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RANBP2-R2039Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNK2-R1086Hhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYLK2-P144Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5OTOR-M1Thet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.946 (probably damaging)
0.5ABHD12-A349Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.453 (possibly damaging)
0.5PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-S3091Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.312 (possibly damaging), Testable gene in GeneTests
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FAM194A-R549Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM194A-L426Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5KIAA1671-P818Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375B3GALTL-G369Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.375ROR2-D935Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-T656Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-R544Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375SFTPC-M10Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LHCGR-N291Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25TBRG4-P57Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TBRG4-A22Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25TBRG4-R8*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TGFB1-P10Lhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF571-L573Hhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25ZNF571-Q534*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF571-E252Dhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.25ZNF571-Q189Hhet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25PALM2-AKAP2-K513Qhet unknown0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PALM2-AKAP2-K513Qhet unknown0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PALM2-AKAP2-L792Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITPRIPL1-T455Mhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITPRIPL1-T537Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATRX-Q929Ehet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-A21Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACBD3-E187Dhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACBD3-P126*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL4-A193Phomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL4-G758Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-F182Shet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKRD43-R124Phet unknown0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ANKRD43-Y386*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ANKRD43-F545Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLN5-K368Rhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR1-R80Thet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH2B1-AAA672Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GSG2-R77*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GSG2-R82Chet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GSG2-G204Dhet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GSG2-I328Thet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GSG2-V378Ahet unknown0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH3TC1-C390Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SH3TC1-L437Phomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CWH43-L533Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CWH43-H689Nhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MTTP-R46Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-I128Thomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMC3-D1098Nhet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMC3-S1044*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TMC3-C892Yhet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C4orf37-R192*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C4orf37-I178Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C4orf37-Y125Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG1-D429Ehet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25FAM55B-N351Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTDP1-S61Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25PRODH-R521Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25LIME1-T111Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LIME1-P211Lhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KDM4B-K710Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KDM4B-Q1087*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GALR1-V48Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GALR1-S334Nhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MST1-R653Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TBC1D16-P204Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TBC1D16-Q193Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-C296Rhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-F202Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCN2-I23Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25TCN2-F252Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCN2-R259Phomozygous0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCN2-S348Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0SIAE-M89Vhet unknown0.040Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0SALL4-Q225Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0SLC4A1-E40Khet unknown0.012Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0CEP152-L734Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0INPP5E-S265Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0PEX1-I696Mhet unknown0.027Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,741,370,802 bases (96.8% of callable positions, 90.7% of total positions)

Coding region coverage: 31,914,360 bases (96.1% of all genes, 96.8% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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