hu904B18 - GET-Evidence variant report

Variant report for hu904B18

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1LRP5-V667MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0413646This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.1
2SIAE-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
3COL4A1-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
4MTRR-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
5APOA5-S19WLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0646151This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.1
6rs5186LowLikelyLikely 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
7LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.110367In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. 1
8ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
9HFE-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
10TP53-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
11ELAC2-A541TLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.0276074This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".1
12ACAD8-S171CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.018312This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.1
13SP110-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
14H6PD-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
15WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
16ADRB2-T164ILowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.0109686This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs.1
17rs1544410LowUncertainUncertain 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
18PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
19CFH-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
20KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
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
21TYR-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
22NEFL-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
23RYR2-G1885ELowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0179176Hypothesized to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S. However, this variant is quite common (2.4% in Europeans), as is G1886S (3.1% in Europeans), and about 1 in 700 are compound heterozygous. This is highly discordant with a disease prevalence of 1 in 2500 to 5000, and notably G1886S is reported in ClinVar as benign. We should consider the original hypothesis disproven.1
24PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
25CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
26LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
27TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
28GJB3-R32WLowUncertainUncertain benign

Unknown, Heterozygous
0.022309Probably benign. Although Polyphen 2 predicts it be damaging and some publications suggested it might have a functional effect, others report it to be a fairly common polymorphism and functional studies failed to find a difference between it and wild type.1
29LRRK2-N2081DLowUncertainUncertain benign

Unknown, Heterozygous
0.0135738Reported as a rare, nonpathogenic variant.1
30PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
31PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
32FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
33FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
34APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
35PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
36PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
37TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
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
38SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
39SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
40RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
41TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30512862 / 33282720 = 91.68%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.1467904855001652376138955553-955753, 957581-957621, 957628-957832, 970657-970704, 976045-976150, 976168-976260, 976553-976777, 976858-976963, 976986-976994, 977010-977082, 977340-977358, 977366-977405, 977419-977432, 977449, 977455-977532, 977539-977542, 978619-978837, 978918-979112, 979203-979403, 979489-979552, 979560-979603, 979612-979630, 979714-979800, 979807-979810, 979818-979819, 980541-980631, 980742, 980757-980789, 980800-980811, 980823-980870, 980884, 981113-981126, 981157-981256, 981344-981466, 981540-981543, 981546-981555, 981562-981565, 981568, 981579-981645, 981777-981896, 981902-981998, 982018-982053, 982061-982115, 982200-982337, 982707-982775, 982794-982814, 982953-983009, 983035-983037, 983060-983067, 983169-983229, 983236-983275, 983392-983486, 983494-983745, 984247-984439, 984616-984804, 984946-984953, 984964-984990, 985002-985026, 985038-985146, 985156-985174, 985283-985369, 985371-985373, 985378-985406, 985412-985417, 985613-985622, 985630-985709, 985837-985880, 985893-985920, 985943-985951, 985961-985971, 986106-986138, 986153-986217, 986633-986749, 986833-986976, 986992-987007, 987108-987173, 987195, 989141-989146, 989153, 989194, 989243, 989252, 989287, 989291-989318, 989327-989357, 989828-989854, 989877-989884, 989889-989921, 990204-990257, 990263-990312, 990323-990326, 990338-990350
2GABRD10.3451066961000789013591950863-1950930, 1956381-1956388, 1956445-1956465, 1956773-1956840, 1956957-1956992, 1957008, 1957037, 1957042-1957043, 1957046-1957105, 1957112-1957162, 1957174-1957177, 1959023-1959031, 1959044-1959093, 1959602-1959630, 1959662, 1959677-1959681, 1959686-1959688, 1959695-1959704, 1959707-1959709, 1960550-1960607, 1960625-1960652, 1960660-1960705, 1960990-1961010, 1961026-1961028, 1961037, 1961064-1961075, 1961128-1961197, 1961422-1961472, 1961489-1961513, 1961524-1961535, 1961539, 1961554-1961620, 1961631, 1961634, 1961659-1961721
3PEX1010.77370030581042229812337923-2337947, 2337967-2337968, 2338160-2338162, 2338283-2338331, 2339997-2340035, 2340143-2340150, 2340193-2340209, 2343843, 2343847-2343875, 2343884, 2343889-2343918, 2343924-2343941
4NPHP410.9551506657323119242815923974, 5934695, 5935056-5935069, 5935111-5935119, 5937262, 5950940, 5950946, 6027408-6027423, 6029156-6029157, 6029282-6029283, 6038330-6038473
5ESPN10.63547758284693525656485016-6485309, 6488319-6488336, 6488374-6488401, 6488426-6488449, 6488459-6488479, 6500317, 6500337, 6500352-6500355, 6500383-6500403, 6500414-6500488, 6500686-6500807, 6500825-6500868, 6501024-6501026, 6501029-6501033, 6501036-6501047, 6501078, 6501081, 6501096, 6501118, 6505839-6505884, 6505888-6505891, 6505918-6505946, 6508701-6508739, 6508760-6508793, 6508843-6508861, 6508868-6508896, 6509059-6509062, 6511904-6511928, 6511953-6511976, 6520201-6520205
6PLEKHG510.8701787394167541431896527960-6528005, 6528099, 6528106, 6528121, 6528136, 6528185-6528191, 6528242-6528260, 6528529-6528530, 6529417, 6529700-6529717, 6530344-6530345, 6530352, 6530823-6530871, 6530903-6530941, 6531079-6531081, 6531085-6531087, 6531099-6531126, 6531589, 6531595, 6531599-6531607, 6531612, 6532616-6532642, 6532659, 6534129, 6534199-6534222, 6534539, 6534551-6534571, 6534576-6534578, 6534622-6534638, 6535139-6535170, 6535198, 6535534-6535536, 6535540-6535546, 6536011-6536013, 6536028, 6556593-6556626, 6557380-6557383
7KIF1B10.9951063429324326531310292462, 10292466, 10351162, 10357011-10357033
8PEX1410.9197530864197591113410684420-10684452, 10687411-10687413, 10687420, 10689593-10689596, 10689732-10689738, 10689763-10689799, 10690039-10690044
9TARDBP10.9678714859437840124511082261, 11082299-11082305, 11082339-11082362, 11082530, 11082630-11082636
10MASP210.60844250363901807206111090810, 11090820, 11094885-11094902, 11094916-11094922, 11097750-11097753, 11097772, 11097776-11097782, 11097791-11097820, 11097859-11097868, 11102932-11102982, 11102995-11103079, 11103396-11103399, 11103412, 11103424-11103592, 11105465-11105531, 11105540-11105596, 11106613-11106615, 11106629-11106682, 11106689-11106705, 11106730-11106771, 11106787-11106790, 11106948-11107035, 11107045, 11107079-11107101, 11107120-11107176, 11107260-11107264
11MTHFR10.9903602232369419197111853968, 11853988-11853995, 11854036, 11854107-11854113, 11854593-11854594
12PLOD110.89835164835165222218411994837-11994879, 12009913, 12010496-12010515, 12010533-12010539, 12012755, 12012759-12012768, 12014906-12014907, 12023644-12023645, 12023662, 12023670, 12023674, 12024339, 12024342, 12024836-12024842, 12025624-12025650, 12026308-12026350, 12026355, 12027071, 12027074-12027075, 12027084, 12030752, 12030756, 12030767, 12030823-12030829, 12030835-12030873
13MFN210.9885664028144226227412064652, 12064665, 12064883-12064888, 12066736-12066750, 12067159-12067161
14CTRC10.983890954151181380715766998-15767010
15CLCNKA10.76259689922481490206416349115-16349122, 16350375, 16352705-16352711, 16353225-16353227, 16353241, 16353888-16353891, 16354316-16354318, 16354380-16354400, 16354598, 16354604, 16355320-16355335, 16355621-16355638, 16355676-16355685, 16356293-16356295, 16356467-16356470, 16356482-16356528, 16356551-16356568, 16356956-16357064, 16357098-16357143, 16357149-16357169, 16358311-16358338, 16358698-16358707, 16358722-16358747, 16358753-16358784, 16358938-16358957, 16358987-16358992, 16359015-16359021, 16359708-16359713, 16360141-16360153
16CLCNKB10.8546511627907300206416372072-16372076, 16373154-16373155, 16374523, 16374838, 16375059-16375064, 16377389, 16377423-16377435, 16378270-16378308, 16378693-16378702, 16378737-16378753, 16378759-16378799, 16378813-16378882, 16378905-16378906, 16380134-16380158, 16380177-16380180, 16380213-16380227, 16380235, 16380243, 16380265-16380267, 16381981-16381987, 16382170-16382185, 16382202-16382209, 16382998, 16383364-16383374
17ATP13A210.91109229466554315354317312738, 17312743-17312745, 17312749-17312758, 17312802-17312828, 17313304, 17313330-17313340, 17313374-17313397, 17313435, 17313559, 17313562, 17313588-17313648, 17313660, 17313674-17313689, 17314820, 17314945, 17318299-17318300, 17318618, 17318738-17318756, 17318802, 17318807, 17318811, 17319011-17319013, 17320275, 17322490, 17322495-17322496, 17322501, 17322554-17322577, 17322630-17322645, 17322788-17322791, 17322909, 17323544, 17323566, 17323591-17323637, 17326523-17326529, 17326533-17326535, 17326572-17326579, 17326609, 17326618-17326623, 17328533, 17328536-17328537
18ALDH4A110.9497635933806185169219203997, 19204073-19204085, 19208246-19208248, 19209630, 19209690-19209692, 19209773-19209775, 19209800-19209801, 19209898-19209922, 19216592-19216599, 19228962-19228986, 19228990
19ALPL10.52380952380952750157521887119-21887158, 21887190-21887210, 21887217-21887238, 21887590-21887597, 21887606, 21887635-21887646, 21887665-21887705, 21889603-21889645, 21889667-21889677, 21889690-21889744, 21889753, 21889756, 21889765, 21889768-21889777, 21890548-21890596, 21890603-21890651, 21890677-21890700, 21890706-21890709, 21894607-21894682, 21894695, 21894725-21894726, 21894728, 21894735, 21896805-21896821, 21896847-21896867, 21900159, 21900171-21900189, 21900199-21900212, 21900218-21900285, 21902231-21902242, 21902332-21902350, 21902353, 21902375, 21902378-21902383, 21902392, 21903877, 21903897-21903912, 21903935-21903942, 21904026-21904040, 21904052-21904107
20HSPG210.9536278081366111317622149832-22149834, 22149843, 22149847, 22149860-22149922, 22149928, 22149963-22149969, 22150135-22150137, 22150164-22150200, 22150639-22150667, 22150822-22150824, 22150838-22150847, 22151037-22151041, 22151068-22151108, 22151227-22151232, 22154391-22154400, 22154540-22154545, 22154548, 22154616-22154638, 22154783-22154803, 22154837, 22154840-22154842, 22155331, 22155335-22155337, 22155395, 22155502-22155518, 22156079-22156097, 22156534, 22168116-22168118, 22168584-22168586, 22169918-22169929, 22174570-22174572, 22186335-22186338, 22186385-22186391, 22186403, 22186414-22186424, 22186707, 22191395-22191399, 22191452-22191454, 22191797, 22192263-22192265, 22198686-22198704, 22198815, 22199250-22199253, 22199503-22199543, 22200425-22200432, 22202191, 22202525, 22206714-22206716, 22206860-22206861, 22206963, 22206968-22206973, 22207149-22207155, 22207243-22207304, 22211084-22211100, 22217108, 22263648-22263710
21WNT410.9071969696969798105622456132, 22456165-22456184, 22469339-22469415
22RPL1110.99068901303538553724019171-24019174, 24019177
23HMGCL10.964212678936613597824134721, 24134761-24134790, 24137241-24137243, 24151904
24FUCA110.84796573875803213140124180980, 24194388-24194390, 24194418-24194467, 24194494-24194524, 24194572, 24194607, 24194613-24194667, 24194678-24194680, 24194684-24194748, 24194760-24194762
25SEPN110.89028776978417183166826126722-26126904
26YARS10.9666036546943953158733251963-33251965, 33256779-33256797, 33256820, 33256823-33256851, 33263417
27HPCA10.920962199312714658233359390-33359435
28ZMPSTE2410.9803921568627528142840737579-40737581, 40737638-40737652, 40737698-40737701, 40747094-40747096, 40747172, 40747177-40747178
29COL9A210.999516908212561207040770037
30KCNQ410.92816091954023150208841249766-41249785, 41249798-41249821, 41249849-41249899, 41249930-41249941, 41250027-41250030, 41284249-41284255, 41284275-41284306
31CLDN1910.893333333333337267543201556-43201594, 43201633, 43203930, 43203940-43203943, 43203956-43203979, 43204112, 43204154, 43205596
32LEPRE110.9696969696969767221143232187, 43232222-43232228, 43232331-43232336, 43232339, 43232392-43232411, 43232424, 43232448-43232456, 43232506-43232527
33SLC2A110.9864773495605120147943395635, 43396414, 43424305-43424322
34EIF2B310.998528329654162135945316647, 45392311
35UROD10.9574275362318847110445478846-45478887, 45479390, 45479453, 45479682, 45480621, 45480675
36POMGNT110.86888552697932260198346659261-46659263, 46660229-46660241, 46660247, 46660251-46660281, 46660566, 46660578-46660590, 46660593, 46661520-46661569, 46662405-46662407, 46662417, 46662441-46662483, 46662509-46662521, 46662688-46662734, 46662755-46662756, 46663447-46663484
37STIL10.999482803206622386747748110, 47765798
38CPT210.996459281740017197753679083-53679089
39DHCR2410.964539007092255155155331060, 55331063-55331064, 55337059, 55340807-55340822, 55352578-55352604, 55352785-55352792
40PCSK910.9634439634439676207955505553-55505555, 55521666-55521669, 55521681-55521684, 55521709-55521767, 55524233, 55524236-55524239, 55524269
41ALG610.9901960784313715153063836713-63836726, 63894696
42LEPR10.999428244711262349866036441, 66067536
43ABCA410.99985341542071682294476388
44DPYD10.9844054580896748307898187066-98187070, 98187105-98187129, 98187158-98187172, 98187207-98187209
45COL11A110.99633498259117205457103352428-103352432, 103363726-103363732, 103364267-103364269, 103435778-103435781, 103488310
46GSTM110.78386605783866142657110230500-110230531, 110230798, 110230854-110230855, 110231714, 110231721, 110231724, 110231727, 110231893-110231947, 110232907-110232913, 110232979-110232988, 110233076-110233091, 110233111-110233113, 110233119-110233129, 110233138
47VANGL110.996825396825451575116227962-116227966
48HSD3B210.97319034852547301119119964930-119964959
49NOTCH210.9911003236246667416120539668, 120539778-120539784, 120547962-120547968, 120548025, 120548055, 120572544-120572550, 120611948-120611968, 120611989-120612009
50PRPF310.99463937621832112052150317000-150317010
51FLG10.57377318234039519412186152276085, 152276123-152276129, 152276171-152276210, 152276243-152276272, 152276318, 152276462, 152276556-152276591, 152276598, 152276623-152276629, 152276668-152276678, 152276710-152276731, 152276881-152276916, 152276971-152276973, 152276976, 152276994, 152277013-152277024, 152277062, 152277095-152277127, 152277159-152277163, 152277261, 152277268, 152277307-152277339, 152277359, 152277374, 152277388-152277397, 152277402, 152277425-152277470, 152277510, 152277513, 152277562, 152277621-152277646, 152277800-152277845, 152278016, 152278049, 152278144-152278158, 152278182, 152278185, 152278189, 152278198-152278201, 152278239, 152278247, 152278254-152278255, 152278258-152278260, 152278401-152278437, 152278482-152278487, 152278573, 152278612-152278618, 152278658, 152278681, 152279116-152279129, 152279171, 152279209-152279235, 152279371-152279417, 152279435-152279442, 152279445, 152279449-152279460, 152279468-152279489, 152279505-152279537, 152279557-152279590, 152279599-152279663, 152279695-152279715, 152279740-152279757, 152279806-152279807, 152279841, 152279870-152279915, 152279928-152279977, 152279992-152280031, 152280044-152280097, 152280143-152280187, 152280209-152280212, 152280247-152280296, 152280304-152280310, 152280334, 152280341, 152280346-152280347, 152280351, 152280361-152280406, 152280420-152280426, 152280468, 152280486, 152280489, 152280522-152280562, 152280570-152280614, 152280647-152280677, 152280697-152280722, 152280729-152280762, 152280845-152280870, 152280886-152280935, 152280967-152281015, 152281059-152281069, 152281088-152281165, 152281179-152281180, 152281199, 152281257-152281335, 152281346-152281464, 152281472-152281509, 152281520-152281530, 152281556-152281631, 152281681-152281714, 152281726, 152281736-152281738, 152281745-152281775, 152281800-152281842, 152281862-152281875, 152281908-152281970, 152281984-152282044, 152282050-152282051, 152282054, 152282068, 152282078-152282140, 152282146, 152282153-152282155, 152282159-152282163, 152282209, 152282218-152282309, 152282322, 152282331-152282357, 152282365-152282449, 152282464-152282508, 152282529-152282603, 152282612-152282637, 152282663-152282682, 152282733, 152282739, 152282751-152282753, 152282758-152282760, 152282765-152282776, 152282845-152282882, 152282928-152282959, 152282995-152283049, 152283065, 152283070, 152283089-152283120, 152283158, 152283189, 152283199-152283309, 152283330-152283334, 152283350, 152283374-152283421, 152283452-152283473, 152283481-152283549, 152283565-152283581, 152283590-152283638, 152283683-152283710, 152283739, 152283776-152283788, 152283796-152283826, 152283834-152283871, 152283882, 152283894-152283947, 152283969-152283978, 152283982-152283984, 152284007-152284013, 152284031-152284102, 152284110-152284151, 152284158-152284212, 152284226-152284408, 152284415-152284453, 152284493, 152284496-152284500, 152284509, 152284514-152284516, 152284521-152284525, 152284557, 152284571-152284615, 152284626-152284658, 152284698-152284722, 152284749-152284779, 152284811-152284857, 152284879, 152284928-152284968, 152284981-152285060, 152285088-152285156, 152285166-152285255, 152285262-152285282, 152285291-152285321, 152285335-152285377, 152285396-152285428, 152285468-152285504, 152285556-152285602, 152285616, 152285621, 152285625, 152285642-152285690, 152285704-152285756, 152285816, 152285833-152285883, 152285892, 152285927-152286074, 152286101, 152286117-152286150, 152286161-152286179, 152286182, 152286187-152286198, 152286250, 152286266, 152286282-152286290, 152286295-152286301, 152286307-152286336, 152286361-152286401, 152286406, 152286428-152286462, 152286487-152286491, 152286498, 152286536-152286541, 152286550, 152286593-152286595, 152286627, 152286677-152286701, 152286705, 152286741-152286750, 152286755-152286761, 152286769-152286784, 152286787, 152286804, 152286808-152286890, 152286911-152286912, 152286915, 152286939, 152286946-152286968, 152286982-152287070, 152287127, 152287153-152287155, 152287212-152287223, 152287796, 152287841-152287846, 152287860-152287902, 152287905-152287907
52CHRNB210.99072233267064141509154544389-154544399, 154544403-154544404, 154544567
53GBA10.9941520467836371197155184413-155184419
54PKLR10.98550724637681251725155269978-155270000, 155271168-155271169
55LMNA10.998236331569661567156105069
56LMNA10.98947368421053211995156104730-156104732, 156105069, 156108319-156108327, 156108335, 156108374-156108380
57SEMA4A10.98206474190726412286156131145-156131149, 156131216-156131251
58NTRK110.99205353408616192391156830727-156830733, 156830736-156830747
59DARS210.937048503611971221938173794448, 173794475, 173797516, 173802559-173802569, 173802617-173802620, 173802625-173802628, 173803611-173803639, 173806078-173806079, 173806095-173806143, 173808588, 173810004-173810005, 173810015-173810021, 173814367-173814372, 173822668-173822671
60SERPINC110.9935483870967791395173873121, 173878907-173878908, 173878914-173878916, 173878968, 173879945, 173879949
61NPHS210.992187591152179544839-179544847
62RNASEL10.9982030548068342226182545439-182545441, 182555604
63CFH10.98079004329004713696196682865-196682890, 196684883-196684884, 196716353-196716395
64CFHR110.998992950654581993196801078
65CACNA1S10.9996442547136325622201022644-201022645
66PKP110.9967904630903372181201282420-201282424, 201282477, 201294215
67TNNT210.996621621621623888201338954, 201338957, 201338962
68USH2A10.99987186879364215609215916557, 216040499
69PSEN210.999257609502611347227071599
70ADCK310.79063786008234071944227152701-227152737, 227152787-227152819, 227152823, 227152885, 227152913-227152929, 227152935, 227152939, 227153088-227153092, 227153098, 227153421-227153428, 227169728, 227169762-227169805, 227169828-227169850, 227170379-227170398, 227170459-227170464, 227170595-227170599, 227170656-227170690, 227170704, 227170716-227170731, 227171272-227171306, 227171320-227171330, 227171467, 227171501-227171526, 227171795-227171805, 227171842-227171843, 227171880-227171921, 227171930-227171936, 227172603-227172604, 227174378-227174384, 227174432-227174438
71GJC210.243181818181829991320228345460-228345475, 228345501-228345529, 228345533, 228345537, 228345546-228345581, 228345599, 228345621, 228345636-228345670, 228345677-228345731, 228345760, 228345764-228345803, 228345809-228345870, 228345882-228345937, 228345947-228345948, 228345954-228345955, 228345960-228345971, 228345976-228345983, 228345991-228346102, 228346129-228346187, 228346222-228346269, 228346277-228346514, 228346526-228346659, 228346667-228346684, 228346691, 228346696-228346698, 228346711-228346733, 228346746, 228346773, 228346777-228346779
72ACTA110.94179894179894661134229567295-229567303, 229567593, 229567768-229567773, 229567827, 229567832-229567833, 229567878-229567885, 229568035-229568059, 229568083-229568087, 229568127-229568133, 229568177-229568178
73LYST10.994125898649836711406235938320-235938322, 235944296, 235966359-235966364, 235967804-235967809, 235969143-235969144, 235969216-235969219, 235971923-235971927, 235972178-235972193, 235972242-235972244, 235972284-235972287, 235972502-235972507, 235972510, 235972591-235972592, 235973361-235973367, 235976307
74ACTN210.9985102420856642685236850017-236850020
75RYR210.998456790123462314904237205829-237205848, 237433892-237433894
76NLRP310.97492767598843783111247582208-247582236, 247587363-247587366, 247587731, 247587752, 247587805, 247587897-247587901, 247588000-247588008, 247588091-247588092, 247588407-247588424, 247588571, 247592976-247592982
77NET1100.99274148520381317915454751-5454763
78IL2RA100.98656898656899118196063454-6063464
79GATA3100.983520599250942213358097710, 8100452, 8100458, 8100626-8100627, 8100721-8100736, 8100745
80OPTN100.995386389850068173413151260-13151267
81DCLRE1C100.9990379990382207914981867-14981868
82CUBN100.99770051508462251087216946014-16946021, 17142055-17142071
83PTF1A100.4630192502532953098723481460-23481477, 23481503-23481549, 23481609-23481800, 23481839-23481960, 23481976-23481979, 23481983, 23481994-23481995, 23482003-23482004, 23482011-23482054, 23482098, 23482101-23482122, 23482132-23482182, 23482220-23482243
84MYO3A100.99567099567121485126500850-26500852, 26500868-26500885
85PDSS1100.991185897435911124827009197-27009207
86MASTL100.996966249525988263727469973-27469979, 27469988
87RET100.9787742899850571334543572707-43572777
88ERCC6100.93083444890674310448250669410-50669416, 50708732-50708742, 50732162, 50732333-50732354, 50732364, 50732466, 50732667, 50732707-50732724, 50732793-50732819, 50736468-50736473, 50736476-50736478, 50736485-50736487, 50736499-50736500, 50736505, 50736562-50736571, 50738766-50738814, 50740637-50740654, 50740663-50740668, 50740738-50740773, 50740800-50740842, 50740874-50740876, 50740880, 50740925-50740929, 50740932-50740966
89CHAT100.9915442812639119224750822242-50822243, 50822344, 50822355-50822358, 50822366, 50822370-50822380
90PCDH15100.9979623025980612588955587188, 55755513, 55780001-55780004, 55782730, 56138623-56138627
91EGR2100.999301187980431143164573356
92NODAL100.97796934865923104472201233-72201248, 72201326-72201327, 72201338-72201341, 72201345
93PCBD1100.9968253968254131572648290
94CDH23100.987271280827371281005673406336-73406337, 73447452-73447455, 73455273, 73461917-73461939, 73461954-73461955, 73462330-73462333, 73464730, 73464753-73464816, 73464866-73464885, 73468880, 73468912, 73468948, 73468967-73468968, 73571713, 73571719
95VCL100.9897209985315735340575758035-75758062, 75758110-75758116
96LDB3100.89423076923077231218488441432-88441438, 88441515-88441520, 88466288-88466297, 88466317, 88466358-88466401, 88469676-88469702, 88476084-88476099, 88476146, 88476151, 88476187-88476201, 88476209-88476214, 88476235-88476262, 88476282-88476307, 88476321-88476347, 88476362, 88476444-88476445, 88476463-88476471, 88476486-88476487, 88476501, 88477893
97BMPR1A100.995622263914957159988683143-88683149
98GLUD1100.86821705426357221167788834308-88834323, 88836362-88836368, 88854085-88854088, 88854100, 88854264-88854270, 88854279-88854317, 88854345-88854390, 88854409-88854433, 88854451-88854526
99LIPA100.993333333333338120090974602-90974608, 90974618
100PLCE1100.9946446663771937690996005924, 96006029, 96006051, 96006059-96006063, 96006143-96006159, 96006363-96006370, 96022348, 96076375-96076377
101HPS1100.97150997150997602106100177367-100177379, 100177389, 100177402-100177427, 100177483, 100177952-100177956, 100185615-100185617, 100186982, 100186987, 100189548-100189556
102COX15100.9935117599351281233101491764-101491771
103PAX2100.9961508852963851299102510618-102510622
104FBXW4100.9967715899919341239103454294, 103454358-103454360
105HPS6100.759879725085915592328103825232-103825253, 103825278-103825298, 103825343-103825405, 103825408-103825418, 103825439-103825466, 103825472-103825507, 103825542-103825572, 103825605-103825634, 103825675-103825712, 103825725-103825778, 103825787, 103825798, 103825809-103825811, 103825844-103825887, 103826037-103826063, 103826110-103826138, 103826207-103826235, 103826275-103826279, 103826311-103826325, 103826368-103826369, 103826372-103826380, 103826423-103826429, 103826511-103826516, 103826543-103826555, 103826683-103826685, 103826766-103826773, 103826950-103826951, 103826992-103827000, 103827417-103827419, 103827422-103827430
106COL17A1100.99043168669337434494105793049, 105793805-105793809, 105793828, 105793861, 105793916, 105793986-105793987, 105794030-105794032, 105794037, 105794066-105794070, 105794390-105794391, 105794394-105794398, 105798194, 105816812, 105816897-105816902, 105816908, 105816913-105816917, 105816928-105816929
107HABP2100.992509363295884534115334124-115334127
108HABP2100.99049316696376161683115312884, 115312888-115312897, 115334124-115334127, 115341859
109EMX2100.7931488801054157759119302784-119302814, 119302826-119302833, 119302861, 119302918-119302963, 119302999-119303044, 119303104, 119303120-119303142, 119305252
110BAG3100.9947916666666791728121411307-121411315
111HTRA1100.782397782397783141443124221169-124221309, 124221328-124221392, 124221417-124221461, 124221472-124221501, 124221595-124221627
112ACADSB100.9992301770592811299124813281
113OAT100.98030303030303261320126086532, 126089495, 126091520-126091523, 126091526, 126091546, 126097193-126097199, 126097312-126097322
114HRAS110.068421052631579531570532636-532683, 532690-532701, 532711-532755, 533453-533612, 533766-533881, 533892, 533902-533944, 534212-534281, 534287-534322
115TALDO1110.701183431952663031014747482-747578, 755879-755886, 755978-756002, 758967-758976, 763344-763357, 763384-763441, 763510-763516, 763519, 763756-763760, 763770-763781, 763858-763864, 763870, 763900-763919, 763930-763944, 764288-764302, 764331-764338
116SLC25A22110.30349794238683677972791915-791984, 792002-792010, 792014, 792020-792053, 792172-792217, 792304-792309, 792316-792347, 792385-792401, 792425-792432, 792436-792438, 792448-792458, 792553-792727, 792870-792956, 792962-792975, 792982-792988, 793529-793540, 793556, 793568-793576, 793588, 793617-793619, 794464-794480, 794776-794841, 794862-794868, 794874-794885, 794890-794901, 794987-795003
117PNPLA2110.441584158415848461515819719-819905, 821632, 821639, 821705-821740, 821805-821823, 821834-821835, 821958-821969, 821972, 821997-822023, 822469-822471, 822597, 823527-823529, 823535, 823542, 823575-823587, 823694-823715, 823723-823748, 823770, 823773, 823781-823783, 823826-823852, 823998-824039, 824055-824093, 824099-824109, 824114-824117, 824128-824130, 824315-824350, 824388-824433, 824523-824564, 824579, 824586-824605, 824614-824617, 824627-824651, 824659-824708, 824720-824768, 824774-824859
118CTSD110.3478611783696580812391774733-1774832, 1774870-1774872, 1774896-1774897, 1774900, 1775033-1775076, 1775091, 1775106-1775131, 1775224-1775368, 1776136-1776144, 1778557-1778585, 1778613-1778618, 1778623-1778625, 1778654-1778685, 1778739, 1778757-1778786, 1780215-1780317, 1780746-1780787, 1780818-1780821, 1780827, 1780836-1780845, 1780850-1780869, 1782539-1782543, 1782559-1782560, 1782567, 1782571-1782638, 1782647-1782698, 1785022-1785089
119TNNI2110.464480874316942945491861454-1861461, 1861468, 1861633-1861674, 1861760, 1861789, 1861793-1861800, 1861811, 1861819-1861840, 1861860-1861872, 1861885-1861886, 1862049-1862064, 1862071-1862110, 1862277-1862288, 1862295-1862305, 1862310-1862311, 1862338-1862349, 1862361-1862389, 1862405-1862437, 1862686-1862699, 1862709-1862714, 1862722, 1862763-1862781
120TNNT3110.010296010296017697771944110-1944121, 1944278-1944291, 1944785-1944802, 1946329-1946346, 1947925-1947939, 1950350-1950373, 1951040-1951055, 1953699-1953744, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955885, 1956059-1956149, 1958193-1958233, 1959668-1959722
121H19110.9953314659197510712017840, 2017995-2017996, 2018000, 2018350
122IGF2110.216596343178625577112154217-2154281, 2154297-2154453, 2154747-2154748, 2154754-2154895, 2156599-2156645, 2156654-2156694, 2156728-2156759, 2161375, 2161412-2161419, 2161434-2161495
123TH110.35111111111111102215752185463, 2185469-2185476, 2185499-2185512, 2185537-2185564, 2185586-2185593, 2185616-2185622, 2186462-2186595, 2186898-2186931, 2186941-2186979, 2187232-2187260, 2187279-2187288, 2187710-2187779, 2187863-2187886, 2187918-2187998, 2188117-2188154, 2188181-2188262, 2188665-2188709, 2189096-2189106, 2189119-2189149, 2189155-2189163, 2189399, 2189727-2189750, 2189779-2189838, 2189848, 2189850-2189851, 2189862-2189895, 2190880-2190890, 2190947-2191077, 2191920-2191974
124KCNQ1110.6883308714918863320312466329-2466368, 2466376-2466714, 2591858-2591866, 2591927-2591930, 2591968-2591984, 2592555-2592593, 2593243-2593307, 2593323-2593339, 2594076-2594078, 2594116-2594164, 2594176-2594183, 2594191, 2594205-2594216, 2604665-2604676, 2604687, 2604692, 2604767-2604769, 2606474, 2606536, 2608806-2608808, 2608817, 2608844, 2608888-2608891, 2610037, 2610078
125CDKN1C110.0977917981072558589512905254-2905290, 2905300, 2905308-2905311, 2905315-2905316, 2905337-2905364, 2905900-2906660, 2906693-2906717
126SMPD1110.99683544303797618966411936-6411941
127SBF2110.994414414414413155509809231-9809233, 9810688-9810691, 9812120-9812129, 9817465, 9838462-9838468, 9838526-9838530, 9838537
128KCNJ11110.9445865302642865117317408511-17408533, 17409058-17409077, 17409091-17409092, 17409320-17409326, 17409597-17409609
129ABCC8110.9922039612305137474617415863-17415865, 17474747-17474749, 17498268-17498276, 17498280-17498285, 17498288-17498296, 17498301-17498307
130LDHA110.99199199199199899918422384-18422390, 18422491
131SLC6A5110.9958228905597310239420623017, 20623156, 20623162, 20623166-20623169, 20658761-20658763
132WT1110.9427284427284489155432449502-32449505, 32449509, 32456585-32456590, 32456595-32456597, 32456619-32456621, 32456626-32456638, 32456675-32456679, 32456681, 32456717-32456760, 32456812, 32456816, 32456820, 32456857-32456861, 32456866
133PDHX110.9893758300132816150635016588, 35016626-35016640
134ALX4110.987864077669915123644286609, 44331284-44331290, 44331567-44331573
135SLC35C1110.875132105645827410-45827441, 45827530-45827531, 45827583-45827590, 45827609-45827642, 45827822, 45827837-45827838, 45827865-45827871, 45827878-45827887, 45832332-45832333, 45832413, 45832473, 45832571, 45832574, 45832588, 45832759-45832768, 45832776, 45832780-45832785, 45832793-45832797, 45832825-45832831
136PEX16110.89913544668588105104145931658-45931685, 45935954, 45935969-45935993, 45937365-45937378, 45939256-45939286, 45939293-45939298
137F2110.5553772070626831186946740801-46740859, 46741254-46741267, 46741281, 46741285, 46741294-46741295, 46741298, 46741318, 46741325-46741349, 46741369-46741412, 46742073-46742085, 46742340-46742355, 46744730-46744751, 46744767-46744830, 46744932-46744935, 46744957-46744983, 46744997-46745024, 46745028, 46745044-46745052, 46747409-46747445, 46747453-46747509, 46747546-46747655, 46747685, 46747717-46747723, 46748051-46748065, 46748073-46748074, 46748088-46748133, 46748168-46748176, 46748268, 46748283-46748303, 46748348-46748349, 46748352-46748370, 46748373, 46748383-46748387, 46749553-46749590, 46749614-46749618, 46749625, 46749633, 46749667-46749685, 46749712-46749713, 46750225-46750256, 46750335-46750339, 46750346-46750379, 46750949-46750950, 46751029-46751031, 46751057-46751059, 46751084-46751093, 46751101-46751111
138DDB2110.995327102803746128447236785-47236787, 47236798-47236800
139MADD110.99939320388353494447350634-47350636
140MYBPC3110.684967320261441205382547353422-47353430, 47353623-47353626, 47353629, 47353676-47353715, 47353723-47353743, 47354129-47354187, 47354365-47354386, 47354511-47354517, 47354522, 47354748-47354766, 47354786, 47354820-47354826, 47354829-47354836, 47354869-47354870, 47354880-47354884, 47355110, 47355137-47355142, 47355183-47355188, 47355285, 47355489, 47355520-47355527, 47356718-47356724, 47357491-47357523, 47357526, 47357551-47357562, 47359101-47359103, 47359109-47359112, 47359252, 47359258-47359265, 47360094-47360157, 47360165-47360203, 47360229-47360230, 47361221, 47362724, 47362734, 47362749-47362761, 47362791-47362795, 47363620, 47364429-47364435, 47364462-47364486, 47364609-47364627, 47364641-47364650, 47365070-47365074, 47365091, 47365096, 47365109, 47365170-47365172, 47367772-47367775, 47367779-47367789, 47367799-47367824, 47367846-47367852, 47367884-47367890, 47367908-47367921, 47368178-47368179, 47368191-47368195, 47368973-47368974, 47368976-47369026, 47369202-47369205, 47369231, 47369408-47369445, 47370026-47370059, 47370077-47370081, 47371348-47371359, 47371398-47371458, 47371465-47371473, 47371572-47371663, 47372053-47372154, 47372164, 47372790-47372840, 47372855-47372889, 47372906, 47372941-47372987, 47372996-47373056, 47374174-47374198
141SLC39A13110.998207885304662111647436429, 47436439
142RAPSN110.9887005649717514123947459592-47459593, 47460454, 47463228, 47463247-47463248, 47470346, 47470410-47470416
143NDUFS3110.99748427672956279547600823-47600824
144GIF110.998405103668262125459599268-59599269
145SDHAF2110.972055888223551450161205244, 61213526-61213538
146BEST1110.996587030716726175861719346-61719347, 61723284-61723287
147BSCL2110.9841612670986322138962469984-62470005
148SLC22A12110.47713598074609869166264359047-64359060, 64359066-64359115, 64359143-64359193, 64359205-64359208, 64359213-64359216, 64359253-64359302, 64359315-64359323, 64359350-64359356, 64359362-64359410, 64359423, 64359426-64359430, 64360271-64360316, 64360334, 64360347-64360352, 64360877-64360907, 64360942-64360946, 64360981-64361023, 64361029-64361031, 64361107-64361109, 64361120-64361126, 64361164-64361210, 64361221-64361224, 64365988-64366049, 64366062, 64366280-64366302, 64366310, 64366333-64366373, 64367148-64367300, 64367325, 64367333-64367347, 64367357-64367362, 64367839-64367849, 64367890, 64367904, 64367908-64367927, 64367939-64367947, 64368207-64368228, 64368246-64368288, 64368312-64368322, 64368410, 64368962-64368968
149PYGM110.91261368129696221252964518037, 64518821, 64518888-64518889, 64520560, 64520568-64520572, 64520640-64520646, 64520999, 64521009-64521061, 64521104, 64521139, 64521353, 64521370, 64521380-64521425, 64521442, 64521472, 64521491-64521497, 64521725-64521763, 64525769-64525814, 64527145, 64527156-64527160
150MEN1110.91558441558442156184864571841-64571843, 64571989, 64572066-64572071, 64572208, 64572230-64572260, 64572547, 64572557, 64572590, 64572595-64572614, 64572621, 64573225, 64577240-64577258, 64577341-64577348, 64577506-64577546, 64577561-64577581
151EFEMP2110.9737237237237235133265639771-65639805
152BBS1110.999438832772171178266299463
153SPTBN2110.9018541753799704717366453461, 66453492, 66454987, 66455012, 66455347, 66455735-66455737, 66456170, 66457312, 66457615-66457621, 66457675-66457677, 66457735, 66457746-66457747, 66460700, 66460717, 66460728, 66461645-66461646, 66461651-66461660, 66461666, 66463748-66463759, 66463821, 66463857, 66467999-66468027, 66468078-66468146, 66468199-66468227, 66468281-66468308, 66468316-66468324, 66468343, 66468394, 66468397-66468399, 66468402-66468490, 66468538, 66468700, 66468734, 66468753, 66469137-66469157, 66472070-66472083, 66472116-66472118, 66472246-66472247, 66472254-66472263, 66472274-66472278, 66472361-66472363, 66472367, 66472376-66472378, 66472571-66472577, 66472625-66472641, 66472679-66472680, 66472689, 66472707-66472716, 66472741, 66472748-66472763, 66472807, 66472832-66472861, 66472892-66472895, 66472906, 66472925, 66472936, 66473289-66473299, 66475031, 66475037, 66475114-66475134, 66475155-66475163, 66475215-66475236, 66475243-66475289, 66475612-66475686, 66476373-66476385, 66476407-66476412, 66478170, 66478178-66478186, 66478222-66478228, 66481169-66481172, 66481787-66481792, 66482834, 66483348
154PC110.81283573649986662353766616743, 66616778, 66616781, 66617114, 66617117, 66617224-66617257, 66617314-66617330, 66617427-66617443, 66617527, 66617578, 66617705, 66617717, 66617736, 66617754-66617782, 66617910-66617911, 66617923-66617925, 66618204-66618236, 66618272-66618304, 66618370-66618383, 66618386-66618394, 66618532-66618568, 66618603, 66618619, 66618623, 66618658-66618681, 66619281, 66619397-66619417, 66619918-66619919, 66619936, 66619976, 66620011-66620012, 66620017, 66620039-66620043, 66620046-66620050, 66620064-66620065, 66620070-66620081, 66620092-66620097, 66620101-66620116, 66620124-66620125, 66620244, 66620253, 66631284-66631296, 66631303-66631348, 66633674, 66633679, 66633687, 66633694-66633709, 66633721, 66633774-66633777, 66633780-66633793, 66633800, 66636419-66636435, 66637810, 66637822, 66637832, 66637837, 66637865-66637883, 66638348-66638363, 66638533, 66638573-66638574, 66638578-66638579, 66638583-66638585, 66638599-66638639, 66638651, 66638786-66638795, 66638885-66638913, 66638926-66638951, 66639181-66639198, 66639219-66639220, 66639232-66639240, 66639248-66639251, 66639495-66639502, 66639514-66639515, 66639622-66639627
155CABP4110.886473429951699482867222959-67222999, 67223087-67223088, 67223100, 67223117, 67223120-67223136, 67223228, 67223231, 67223667-67223689, 67223819, 67223880, 67223909, 67225912, 67225949-67225951
156AIP110.2084592145015178699367254477-67254543, 67254554, 67254562, 67254596, 67254606-67254610, 67254630, 67254646-67254656, 67256738-67256776, 67256784-67256790, 67256799-67256926, 67257509-67257685, 67257787-67257928, 67258259-67258464
157NDUFV1110.994982078853057139567374531-67374537
158NDUFS8110.8056872037914712363367799768-67799772, 67800390, 67800452-67800475, 67800608-67800610, 67800642-67800643, 67800670-67800709, 67800728-67800734, 67803720-67803729, 67803825-67803839, 67803929-67803944
159TCIRG1110.84917769755315376249367809277-67809278, 67810110-67810119, 67810143-67810149, 67810161, 67810172-67810186, 67810227, 67810256-67810297, 67810303, 67810457, 67810463, 67810471-67810473, 67810484-67810486, 67810934-67810962, 67811289-67811319, 67811355-67811374, 67811599-67811612, 67811648-67811663, 67811709-67811721, 67811754-67811761, 67811792-67811794, 67812520-67812540, 67815237-67815239, 67816399-67816400, 67816548-67816553, 67816557-67816563, 67816628-67816629, 67816652-67816654, 67816758-67816761, 67817140-67817141, 67817188, 67817215-67817244, 67817462-67817487, 67817624-67817639, 67817664-67817678, 67817713-67817721, 67818124-67818131
160LRP5110.87355610561056613484868080183-68080273, 68131215-68131222, 68131249-68131284, 68131299-68131404, 68133039-68133044, 68133088-68133133, 68153784, 68153794-68153825, 68153918-68153948, 68154033-68154048, 68154102, 68154115, 68170954, 68171025-68171031, 68171096-68171097, 68171102, 68174092, 68177382-68177406, 68177558, 68181268, 68201216-68201221, 68204416-68204458, 68205933-68205934, 68207260-68207273, 68207286, 68207305, 68207334, 68207347-68207350, 68207362-68207366, 68207383-68207384, 68213950-68213953, 68213965, 68213980, 68216304-68216320, 68216347-68216364, 68216412-68216430, 68216438, 68216450-68216470, 68216478, 68216502-68216538
161IGHMBP2110.70791415157612871298268671421-68671502, 68673557-68673577, 68673627-68673655, 68673700, 68676023-68676035, 68676039, 68678908-68678914, 68678931-68678934, 68678962, 68678972, 68678978, 68679014-68679056, 68682337, 68682370-68682424, 68682459-68682467, 68682476, 68682487-68682491, 68696651-68696652, 68696661-68696664, 68696676-68696700, 68696746, 68696764, 68700767-68700786, 68700814-68700815, 68700850-68700860, 68700912-68700923, 68700926, 68700937-68700946, 68701263-68701303, 68701329-68701339, 68701351, 68701932-68701946, 68701981, 68702812-68702831, 68703732-68703776, 68703791-68703799, 68703876-68703904, 68703932-68703968, 68703996-68704024, 68704041-68704086, 68704116-68704135, 68704147-68704149, 68704153-68704156, 68704197-68704220, 68704249-68704283, 68704331-68704381, 68704398-68704412, 68704417, 68704428, 68704446-68704459, 68704478-68704485, 68704489-68704505, 68704534-68704542, 68705747-68705755, 68705800-68705801, 68707180-68707189
162DHCR7110.80952380952381272142871146421-71146456, 71146465-71146505, 71146538-71146547, 71146564-71146596, 71146638-71146666, 71146685-71146694, 71146699-71146702, 71146717-71146724, 71146730-71146731, 71146790-71146803, 71146827-71146868, 71148912-71148925, 71149941-71149944, 71149981-71149987, 71150055-71150066, 71155170-71155175
163MYO7A110.736010830324911755664876841681-76841685, 76841693, 76841697-76841698, 76853863, 76858844-76858857, 76858891-76858896, 76867788-76867804, 76867969-76867982, 76868012-76868038, 76868427, 76869417-76869418, 76869421, 76873357-76873363, 76874015-76874022, 76883794-76883797, 76883826-76883931, 76885802-76885960, 76886418-76886419, 76886433-76886510, 76888595-76888602, 76888626-76888674, 76888683, 76888686, 76890091-76890175, 76890781-76890850, 76890860-76890999, 76891420-76891527, 76892426-76892489, 76892497-76892507, 76892522-76892566, 76892583-76892635, 76892997-76893104, 76893114-76893200, 76893469-76893580, 76893602-76893645, 76894113-76894179, 76894192-76894200, 76895714-76895731, 76895745-76895760, 76900393-76900400, 76900404-76900410, 76900421, 76900437, 76900440-76900441, 76900449-76900450, 76901065-76901070, 76901084-76901085, 76901090-76901091, 76901101, 76901128, 76901157-76901184, 76901790-76901842, 76901899-76901901, 76901907-76901915, 76903103-76903109, 76903120-76903150, 76903170-76903200, 76903214, 76903224-76903225, 76903258, 76903268, 76903288, 76909540-76909542
164TYR110.998742138364782159088961066-88961067
165MTMR2110.99637681159427193295657108-95657114
166DYNC2H1110.9865585168018517412945102980377, 102984332-102984371, 102984383, 102987342-102987346, 102988360-102988361, 102988547-102988551, 102991509-102991527, 102991722-102991724, 102996015, 102996018, 103014092-103014095, 103014098, 103027213, 103029407-103029436, 103029506-103029524, 103029692-103029694, 103031759-103031773, 103043821-103043822, 103043826-103043827, 103043830-103043831, 103043937, 103043940-103043943, 103043967-103043971, 103044011-103044015, 103044021, 103044027
167ATM110.99258532330171689171108155090-108155098, 108158441-108158442, 108160433-108160441, 108160502-108160504, 108164040-108164058, 108164160-108164173, 108172506-108172516, 108178700
168ALG9110.9978213507625341836111742119-111742122
169DLAT110.9969135802469161944111931815-111931820
170PTS110.997716894977171438112097227
171DRD2110.998498498498521332113281449-113281450
172APOA1110.8917910447761287804116706603, 116706722-116706735, 116706774-116706775, 116706788-116706821, 116706870-116706893, 116707739-116707748, 116708100-116708101
173TECTA110.9907192575406606465120989161-120989162, 120989188, 120989338, 121030963, 121032805, 121032811-121032816, 121032833, 121032840-121032846, 121032874-121032880, 121032898, 121032908, 121032929, 121032934, 121032939-121032947, 121032978, 121032989, 121032992-121032999, 121033043, 121036071-121036072, 121036076-121036077, 121037287-121037290, 121037301
174ROBO3110.970199471280941244161124735529, 124735561-124735630, 124738882-124738895, 124738920-124738947, 124738993-124738996, 124739367-124739373
175ACAD8110.97195512820513351248134130977-134130980, 134131678-134131680, 134132477-134132484, 134134802-134134821
176WNK1120.98908938313051787149862833-862834, 862837, 862887-862896, 862984-862997, 863148-863154, 863161-863204
177CACNA2D4120.99970708845929134141988986
178CACNA1C120.985215668343249765612692082-2692084, 2716191-2716197, 2717679-2717690, 2717750, 2717756-2717760, 2717805-2717812, 2717816, 2760871-2760875, 2783711, 2786362-2786364, 2788722-2788724, 2788732-2788750, 2788886-2788896, 2791765, 2791781, 2795364-2795370, 2797838-2797846
179VWF120.9757166548211320584426125338-6125344, 6125722-6125729, 6127532-6127538, 6127655-6127661, 6128064-6128087, 6128257-6128263, 6128297-6128303, 6128339-6128365, 6128449-6128451, 6128476-6128508, 6128554-6128560, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166140, 6184531
180SCNN1A120.980795610425244221876458351-6458363, 6458369-6458374, 6472668-6472685, 6472861-6472864, 6483716
181TPI1120.92607506976731-6976735, 6976750-6976778, 6976813-6976830, 6976838-6976845
182CDKN1B120.886097152428816859712870797, 12870845-12870851, 12870883-12870897, 12870933-12870970, 12871093-12871099
183ABCC9120.9972043010752713465021962814-21962818, 21962821-21962826, 21962858-21962859
184KRAS120.98421052631579957025380200-25380208
185PKP2120.92840095465394180251433049443-33049504, 33049512-33049598, 33049626-33049643, 33049649-33049661
186LRRK2120.9947257383966240758440646741-40646760, 40653359, 40761518-40761536
187IRAK4120.9551699204627662138344166760, 44171466-44171471, 44171496-44171499, 44177526-44177527, 44180209-44180210, 44180256-44180273, 44180298, 44180304-44180315, 44180328-44180343
188VDR120.999221183800621128448251345
189COL2A1120.96706989247312147446448369137-48369147, 48372132, 48372423-48372471, 48372525, 48372530, 48373294-48373332, 48373817-48373827, 48373832, 48373844-48373845, 48374365, 48375900-48375904, 48375917, 48376659-48376665, 48377511-48377514, 48377517-48377519, 48377870-48377875, 48378362, 48380211-48380212, 48398080
190MLL2120.992476224870591251661449424469, 49426602-49426665, 49426728-49426729, 49426855-49426859, 49426914, 49427266-49427268, 49427271-49427273, 49427284, 49427287, 49427313-49427327, 49427661-49427664, 49431294, 49431297-49431314, 49431517, 49431522, 49431820, 49434074, 49434080-49434081
191DHH120.9638958858102443119149488165-49488207
192TUBA1A120.6491228070175416045649522206-49522222, 49522258-49522290, 49522303-49522320, 49522383-49522414, 49522431-49522472, 49522572-49522588, 49522605
193ACVRL1120.92592592592593112151252306883-52306905, 52307356-52307402, 52307446-52307465, 52307516, 52308349-52308357, 52309940-52309943, 52314620-52314627
194KRT81120.9920948616600812151852680212, 52684040-52684041, 52685096, 52685100-52685101, 52685106-52685107, 52685184-52685187
195KRT86120.9931553730321710146152696908-52696917
196KRT83120.999325236167341148252713128
197KRT6B120.9516224188790682169552841158-52841187, 52844240-52844249, 52845598-52845614, 52845662-52845686
198KRT6C120.93864306784661104169552863035-52863049, 52863536, 52865879-52865928, 52866006, 52867242-52867273, 52867324, 52867339-52867342
199KRT6A120.9663716814159357169552885462-52885479, 52886708-52886738, 52886772-52886778, 52886911
200KRT5120.9830795262267330177352908743-52908767, 52908907-52908911
201ITGA7120.99941622883832342656086651-56086652
202RDH5120.968652037617553095756115054-56115076, 56115229, 56115233-56115236, 56115511-56115512
203RPS26120.99712643678161134856436209
204MYO1A120.999361430395912313257424844, 57431767
205TSFM120.974437627811862597858176590-58176614
206GNS120.9939722724532910165965141666-65141667, 65152978-65152984, 65152994
207LEMD3120.999634502923981273665639527
208CEP290120.9965053763440926744088472957, 88472960, 88522723, 88523545-88523553, 88532932, 88532938, 88534733-88534736, 88534750-88534757
209HAL120.9721377912867355197496370208-96370227, 96370406, 96370412-96370414, 96371781-96371787, 96374348-96374349, 96380845-96380866
210TMPO120.9908872901678719208598909886-98909895, 98909900-98909907, 98921720
211MMAB120.9322709163346651753109994918-109994925, 109998854-109998868, 109998907-109998909, 109999654-109999657, 110011201, 110011209-110011228
212TRPV4120.859709480122323672616110221456-110221505, 110222140, 110222215, 110224543-110224552, 110224575-110224616, 110226230-110226269, 110226430, 110230508-110230510, 110231404, 110232249-110232292, 110236429-110236432, 110236462, 110236466-110236471, 110236571, 110236585-110236587, 110236618, 110236657, 110238440, 110238483-110238511, 110238533-110238558, 110240814-110240816, 110240835-110240841, 110240879-110240884, 110240894-110240897, 110246109, 110246123-110246180, 110246203-110246204, 110246207-110246214, 110246224-110246228, 110252418, 110252422, 110252435, 110252574-110252577
213ATP2A2120.9996804090763813129110719596
214ATXN2120.811009639776767453942111891566, 111891575, 111891586, 111926306-111926308, 111926318, 111926334-111926335, 111926346, 111926404, 111926422-111926423, 111990728, 112036588-112037318
215ACADS120.795803066989512531239121163716, 121164857, 121174899-121174921, 121175159-121175164, 121175179-121175189, 121175219-121175227, 121175231, 121175642-121175660, 121175703-121175706, 121175711-121175714, 121175746, 121175751-121175766, 121175788-121175791, 121176083, 121176128-121176131, 121176200-121176204, 121176216-121176253, 121176365-121176388, 121176450, 121176454, 121176472-121176473, 121176635-121176657, 121176679, 121176691, 121176943-121176950, 121176965-121176978, 121177139-121177149, 121177181-121177198, 121177230
216HNF1A120.940928270042191121896121416635, 121434194-121434216, 121434344-121434368, 121434423, 121435299-121435300, 121435307, 121435312, 121435355-121435357, 121435433-121435435, 121437175-121437192, 121437379, 121437382, 121437395-121437408, 121437411, 121438868, 121438872-121438877, 121438880, 121438906, 121438910-121438915, 121438923, 121438928
217HPD120.96192893401015451182122286944-122286961, 122287661-122287667, 122295691-122295710
218PUS1120.877725856697821571284132414271-132414300, 132414457-132414501, 132425976-132426007, 132426094, 132426284-132426302, 132426474-132426503
219SGCG130.99771689497717287623869554-23869555
220SACS130.99679767103348441374023907677, 23907682-23907683, 23907686, 23908418-23908447, 23910383, 23911436, 23912329, 23913941, 23949263-23949268
221PDX1130.9906103286385885228498721, 28498808-28498814
222B3GALTL130.998663994655982149731774223-31774224
223BRCA2130.99844008969484161025732903629, 32953492, 32954269-32954282
224SPG20130.99200399800116200136909268-36909283
225FREM2130.97476340694006240951039261565-39261580, 39261608-39261688, 39261734, 39261745, 39261750, 39261784-39261799, 39261822-39261857, 39261876-39261883, 39261895-39261926, 39261936-39261966, 39261993, 39262006, 39262010, 39262023, 39262049-39262061
226SUCLA2130.997844827586213139248570999-48571000, 48575370
227RB1130.99892357373523278748878115-48878117
228CLN5130.9583333333333351122477566140, 77566235-77566242, 77574633, 77574650, 77574840, 77574886-77574892, 77574939, 77574949-77574967, 77575050-77575053, 77575089-77575095, 77575102
229SLITRK1130.999043519846962209184453774-84453775
230ZIC2130.56035021888687031599100634333-100634427, 100634440-100634486, 100634501, 100634517-100634518, 100634522-100634535, 100634562-100634627, 100634679-100634684, 100634693-100634726, 100634800-100634831, 100634852-100634889, 100634908, 100634911, 100634927, 100634930-100634938, 100634994-100634996, 100635007-100635010, 100635070-100635079, 100635187-100635193, 100635197, 100635214, 100637277, 100637305, 100637331, 100637334, 100637350-100637363, 100637577-100637587, 100637618-100637669, 100637676-100637902, 100637915-100637936
231PCCA130.97485139460448552187100741466-100741473, 100915034, 100925452, 101020784, 101020788-101020799, 101020803, 101101506-101101529, 101101539, 101101554-101101559
232ERCC5130.9995281906109924239103518144-103518145
233COL4A1130.9874251497006635010110959294-110959346, 110959365-110959374
234F7130.1131086142322111841335113760156-113760219, 113765004-113765146, 113765152-113765164, 113768066-113768077, 113768161-113768170, 113768186-113768211, 113768243-113768274, 113769974-113770114, 113771102-113771111, 113771161-113771181, 113771787-113771805, 113771814-113771910, 113772727-113773322
235F10130.580777096114526151467113777170-113777239, 113795241-113795247, 113795282, 113798203-113798288, 113798341-113798369, 113798373, 113798406, 113801737, 113801741-113801746, 113803230-113803237, 113803244-113803290, 113803296-113803368, 113803397-113803438, 113803467-113803472, 113803502-113803514, 113803526-113803631, 113803665-113803711, 113803734-113803767, 113803787-113803797, 113803806-113803831
236GRK1130.742907801418444351692114321706-114321708, 114321711-114321719, 114321723, 114321733, 114321742-114321805, 114321815, 114321871, 114321888-114321908, 114321933-114321952, 114321963-114322019, 114322092-114322101, 114322127-114322157, 114322165-114322183, 114322192-114322258, 114322267-114322277, 114322289, 114322300-114322304, 114322357-114322382, 114324018, 114324070, 114325815, 114325864-114325866, 114325876-114325895, 114325907-114325914, 114325937, 114325947-114325971, 114426049, 114426062-114426086, 114434215
237TEP1140.9977168949771718788420841302-20841305, 20841558-20841561, 20850465-20850471, 20854713-20854715
238RPGRIP1140.9997409997411386121798502
239SLC7A7140.9980468753153623282123, 23282126-23282127
240PABPN1140.983713355048861592123790681-23790683, 23790703-23790705, 23790916-23790924
241NRL140.894957983193287571424550492-24550494, 24550520, 24550527, 24550567-24550597, 24550601-24550606, 24550621, 24551759, 24551798-24551828
242TINF2140.993362831858419135624711530-24711538
243TGM1140.91727791361043203245424718598, 24723912-24723924, 24723944-24723965, 24724005, 24724214-24724215, 24724253-24724256, 24724259, 24724297-24724326, 24724347-24724393, 24724420, 24725236-24725239, 24725254, 24727513-24727520, 24727525, 24727535, 24727546, 24727576, 24727749-24727789, 24728937-24728938, 24729257, 24731402-24731405, 24731438-24731444, 24731460, 24731470, 24731481-24731487
244FOXG1140.82312925170068260147029236678-29236696, 29236700-29236710, 29236731-29236960
245NKX2-1140.9477611940298563120636986826-36986846, 36986872-36986900, 36988367-36988379
246FANCM140.998535871156669614745623961, 45644530, 45650633-45650635, 45652985-45652988
247MGAT2140.995535714285716134450088124-50088129
248C14orf104140.85322195704057369251450100340, 50100382, 50100503, 50100590, 50100628, 50100663-50100687, 50100754-50100782, 50100832-50100835, 50100838, 50100880-50100888, 50100929, 50100935-50100937, 50100943-50100945, 50100956-50100986, 50101091-50101138, 50101147-50101173, 50101219-50101268, 50101357-50101359, 50101363-50101377, 50101410-50101435, 50101453-50101493, 50101543-50101565, 50101596-50101597, 50101614-50101634, 50101682, 50101852
249L2HGDH140.9813218390804626139250713784-50713809
250GCH1140.981407702523241475355369131-55369137, 55369235-55369241
251OTX2140.976510067114092189457268566, 57268947-57268960, 57271023, 57271028-57271030, 57272090-57272091
252SYNE2140.99657402045937712072464457783-64457784, 64483207, 64483278-64483280, 64488123-64488124, 64488127, 64488625-64488634, 64491906-64491908, 64494230-64494239, 64497923-64497926, 64514845-64514851, 64518834, 64518913-64518915, 64518919, 64519532-64519534, 64519541, 64520145, 64520181, 64537466, 64537469, 64556363-64556377
253VSX2140.999079189686921108674706425
254NPC2140.99561403508772245674959940-74959941
255ESRRB140.9679109364767549152776957790-76957804, 76957893-76957894, 76957898, 76964667-76964691, 76964695-76964700
256POMT2140.94052374611629134225377744776-77744786, 77744830-77744851, 77745166-77745168, 77745179-77745182, 77745186-77745188, 77745193-77745195, 77786805-77786811, 77786834-77786855, 77786878-77786884, 77786958-77787009
257GALC140.94460641399417114205888459318-88459342, 88459366-88459409, 88459436-88459444, 88459454-88459489
258ATXN3140.9502762430939254108692537294, 92537344-92537350, 92547379, 92549592-92549600, 92559633-92559639, 92559644-92559648, 92563046-92563069
259AMN14013621362103389026-103389068, 103390048-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
260INF2140.2050666666666729813750105167703-105167712, 105167720-105167822, 105167841-105168058, 105168072-105168084, 105168092-105168093, 105169442-105169477, 105169511-105169557, 105169632-105169726, 105169734-105169791, 105170253-105170286, 105172372-105172420, 105172428-105172450, 105172453-105172457, 105172483-105172513, 105173247-105173253, 105173258, 105173279-105173296, 105173323-105173375, 105173380, 105173590-105173672, 105173691, 105173697-105173794, 105173813-105173834, 105173849-105174339, 105174773-105174837, 105174857-105174914, 105174920-105174924, 105175008-105175026, 105175032-105175069, 105175618-105175626, 105175653-105175686, 105175957-105175961, 105175971-105176042, 105176425-105176525, 105177274-105177308, 105177331-105177344, 105177422-105177424, 105177442-105177523, 105177966-105177970, 105178008-105178036, 105178770-105178837, 105178844-105178890, 105179165-105179239, 105179248, 105179257-105179329, 105179544-105179567, 105179586-105179627, 105179636-105179646, 105179782-105179812, 105179818-105179830, 105179833, 105179867-105179870, 105179906-105179929, 105179941-105179943, 105180540-105180595, 105180605-105180629, 105180659-105180660, 105180666, 105180670, 105180674-105180697, 105180701-105180712, 105180720-105180732, 105180738-105180783, 105180790-105180825, 105180847-105180851, 105180860, 105180868-105180870, 105180894-105180901, 105180907-105180996, 105181006-105181020, 105181046, 105181056-105181084, 105181107-105181145, 105181153-105181193, 105181626, 105181630-105181671
261NIPA1150.8141414141414118499023049304-23049309, 23086234-23086411
262IVD150.997658079625293128140698153-40698155
263CHST14150.87975243147657136113140763428-40763451, 40763472-40763493, 40763499-40763500, 40763506, 40763509-40763578, 40763666-40763675, 40763736, 40763749-40763750, 40763796-40763799
264STRC150.999249249249254532843906461, 43910867-43910869
265DUOX2150.9967721110393815464745393015, 45393018-45393019, 45393464, 45403681-45403689, 45404853-45404854
266GATM150.9866352201257917127245670616-45670632
267FBN1150.999883936861651861648719874
268TPM1150.984795321637431385563335090-63335102
269CLN6150.8867521367521410693668500478-68500498, 68500654-68500673, 68501975-68501982, 68502077-68502083, 68521840-68521845, 68521857-68521867, 68521884-68521916
270NR2E3150.999094202898551110472103869
271HEXA150.998113207547173159072668283-72668285
272HCN4150.81229235880399678361273614880-73614898, 73615004-73615005, 73615009-73615015, 73615019, 73615162-73615168, 73615414-73615434, 73615441-73615444, 73615468, 73615471, 73616157-73616158, 73616584-73616588, 73659827-73659830, 73659855, 73659861-73659863, 73659870, 73659881-73659896, 73659950-73659992, 73660006, 73660047-73660071, 73660083-73660084, 73660092-73660506, 73660515-73660611
273ETFA150.99401197604796100276578735, 76578809-76578810, 76580202-76580204
274PSTPIP1150.0479616306954441191125177310489-77310589, 77310798-77310821, 77310840-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320947, 77320954-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
275FAH150.9920634920634910126080445416-80445425
276POLG150.997580645161299372089876812-89876817, 89876828-89876830
277MESP2150.81407035175879222119490319629, 90319753-90319794, 90319801-90319848, 90319856-90319879, 90319923-90319990, 90320008-90320016, 90320023-90320034, 90320037, 90320096-90320102, 90320119, 90320149, 90320161, 90320400, 90320434-90320439
278BLM150.9828396803008973425491303438-91303443, 91337402-91337434, 91337448-91337452, 91337455-91337463, 91337542-91337549, 91337580-91337587, 91341527, 91341534-91341536
279IGF1R150.9926900584795330410499192817-99192824, 99192893-99192899, 99500340-99500346, 99500543-99500544, 99500587-99500592
280HBZ160.41025641025641253429202922, 202943-202966, 203927-203938, 203955-204008, 204016-204061, 204070-204095, 204271-204305, 204313-204334, 204338, 204367-204398
281HBM160.995305164319252426216040, 216043
282HBA2160.41025641025641253429222912-222990, 222996-223006, 223162-223197, 223213, 223216, 223240-223328, 223473-223482, 223526-223551
283GNPTG160.810457516339871749181401967-1402018, 1402103-1402152, 1402159-1402160, 1402240-1402307, 1411798, 1411899
284CLCN7160.20760959470637191624181496632-1496718, 1497007-1497087, 1497393-1497569, 1497656-1497715, 1498356-1498485, 1498682-1498767, 1498967-1498996, 1499008-1499094, 1499277-1499328, 1500498-1500667, 1501624-1501717, 1502756-1502894, 1503835-1503883, 1504412-1504440, 1504458-1504466, 1505136-1505251, 1505732-1505745, 1505758-1505796, 1506114-1506116, 1506129-1506131, 1506140-1506207, 1507255-1507267, 1507294-1507297, 1507300-1507307, 1507316-1507338, 1507695-1507720, 1507726-1507757, 1509108-1509114, 1509123-1509124, 1509133-1509148, 1509155-1509188, 1510453-1510471, 1510838-1510870, 1510893-1510895, 1510898-1510904, 1510914-1510916, 1510946-1510949, 1511442-1511462, 1511624-1511630, 1515298, 1515339, 1524835-1524948, 1524961-1524975
285IGFALS160.054865424430642182619321840601-1840658, 1840678-1840703, 1840725-1840904, 1840913-1841263, 1841271-1841625, 1841632-1842047, 1842053-1842173, 1842180-1842454, 1842475-1842516, 1843652-1843653
286GFER160.131067961165055376182034220-2034477, 2034748-2034826, 2034834-2034942, 2035884-2035938, 2035954, 2035971, 2035978-2035994, 2035999, 2036003-2036004, 2036016-2036029
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288PKD1160.004259603469640612857129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143601, 2143611-2143716, 2143725-2143739, 2143812-2144014, 2144093-2144205, 2147149-2147242, 2147320-2147352, 2147366-2147415, 2147435-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
289ABCA3160.9554252199413522851152327934-2327936, 2328391-2328392, 2328453-2328459, 2328979-2328983, 2331139-2331141, 2331187-2331191, 2331441-2331446, 2333193-2333206, 2333210, 2334351, 2334977-2334993, 2335454-2335457, 2335462, 2338054, 2338057-2338059, 2338062, 2338290-2338293, 2339596-2339598, 2347483-2347484, 2347491-2347493, 2347907, 2347911, 2347918-2347922, 2348397-2348399, 2348405-2348413, 2348417, 2348420, 2349474-2349480, 2350017-2350018, 2350024, 2350148-2350149, 2354063-2354065, 2354105-2354113, 2354127, 2354141-2354149, 2369593, 2369645-2369666, 2369718-2369724, 2369763-2369796, 2374525, 2376027, 2376033, 2376038, 2376105-2376108, 2376414-2376428
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291SLX4160.9391462306993633555053632374-3632420, 3632475-3632543, 3632570-3632572, 3632577-3632578, 3632605, 3632608, 3632652-3632679, 3633184, 3633193, 3633257-3633258, 3633282-3633284, 3633300-3633302, 3633314, 3633319, 3633467, 3633470-3633474, 3639097-3639113, 3639139, 3639155, 3639161-3639162, 3639226, 3639230-3639240, 3639267, 3639270, 3639324-3639331, 3639446-3639483, 3639576-3639582, 3639653, 3639777-3639805, 3639823, 3639840, 3639846, 3639850-3639854, 3639864, 3639950-3639951, 3639991, 3642740, 3642807-3642827, 3642866, 3644579, 3647380, 3647543, 3647569, 3647816, 3647847, 3647866, 3647909, 3650997, 3651013, 3651017, 3652247-3652248
292CREBBP160.9690271524082422773293777725, 3777728-3777730, 3777745-3777757, 3778123-3778164, 3778290-3778313, 3778362-3778387, 3778401-3778403, 3778407-3778412, 3778440-3778442, 3778448-3778452, 3778598-3778636, 3778786-3778808, 3778844-3778845, 3778888, 3778895-3778904, 3778923-3778927, 3778942-3778945, 3778948-3778951, 3778988, 3779006-3779009, 3779080-3779081, 3779148-3779150, 3779478-3779480
293GLIS2160.11492063492063139415754382297, 4382302, 4382328-4382346, 4382380-4382397, 4382406, 4382409, 4382418-4382419, 4382422-4382453, 4383348-4383389, 4383392, 4383395-4383396, 4383411-4383439, 4383450-4383451, 4383457, 4383460-4383461, 4383469-4383470, 4383475-4383477, 4383484-4383520, 4384802-4384867, 4384881-4384934, 4384949-4384978, 4385061-4385194, 4385276-4385394, 4386726-4386730, 4386736-4387525
294ALG1160.8164874551971325613955128774-5128819, 5128831-5128879, 5129074-5129086, 5130947-5131000, 5131019-5131053, 5133683, 5133747, 5134774, 5134802-5134851, 5134877-5134882
295PMM2160.97165991902834217418891785-8891805
296MYH11160.99932659932664594015839064-15839067
297ABCC6160.669547872340431491451216243996-16244029, 16244031-16244045, 16244049-16244054, 16244057, 16244063, 16244082-16244098, 16244447-16244488, 16244519-16244520, 16244532-16244560, 16244583-16244589, 16244600, 16244603, 16248491-16248492, 16248499, 16248502, 16248546, 16248566-16248577, 16248602-16248612, 16248626-16248651, 16248730-16248751, 16248833, 16248842, 16251589, 16251633, 16251646, 16253339-16253377, 16253423-16253440, 16255295-16255421, 16256853-16257049, 16259480-16259790, 16263503-16263710, 16267141-16267261, 16269781-16269810, 16269830-16269836, 16271357, 16271368-16271370, 16271382-16271384, 16271402-16271440, 16271460, 16271463, 16271467, 16271483, 16272751-16272774, 16272821-16272822, 16276352, 16276713-16276714, 16276759-16276765, 16278884-16278891, 16280998-16281003, 16282757, 16282808, 16291883-16291888, 16291953, 16292028-16292034, 16295926, 16295957, 16297382-16297427, 16302586, 16313411-16313415, 16315605-16315629, 16317276
298OTOA160.9932748538011723342021768480-21768502
299OTOA160.9929718875502799622584620-22584626
300COG7160.999567661046261231323409374
301PALB2160.999157540016853356123614900, 23614904, 23614961
302CLN3160.993925588458628131728497678, 28497681-28497683, 28497698, 28499052-28499054
303TUFM160.92690058479532100136828857320-28857339, 28857376-28857421, 28857539-28857572
304ATP2A1160.94876912840985154300628895896-28895912, 28895919-28895943, 28895963-28895964, 28898871-28898884, 28898929-28898952, 28898967, 28898984-28899005, 28900113, 28900192-28900208, 28900223-28900245, 28912004, 28912159-28912163, 28915501, 28915511
305CD19160.9922202274087413167128948948, 28949123-28949131, 28950016, 28950034, 28950253
306PHKG2160.9352989352989479122130760142-30760201, 30760229-30760231, 30760236, 30764724-30764735, 30768375-30768377
307VKORC1160.98983739837398549231102663, 31105975-31105978
308FUS160.9848197343453524158131193876-31193878, 31195278-31195281, 31195293-31195303, 31195687, 31196437-31196441
309SLC5A2160.456661713719661097201931494458-31494473, 31494482, 31494503-31494582, 31496014, 31496045-31496065, 31496159-31496202, 31496223, 31497050-31497078, 31497127-31497159, 31497186-31497206, 31497505-31497511, 31497558-31497596, 31498656, 31498675, 31498685-31498706, 31498868-31498917, 31498926-31498964, 31498972-31499014, 31499033, 31499055-31499056, 31499359-31499396, 31499409, 31499413, 31499460-31499469, 31499471-31499473, 31499704-31499748, 31499760-31499811, 31499943-31500093, 31500218-31500299, 31500310-31500369, 31500444-31500512, 31500522, 31500553-31500579, 31500606-31500619, 31500632, 31500643, 31501429, 31501447, 31501450-31501459, 31501512-31501513, 31501543, 31501546, 31501684-31501705, 31501729-31501778, 31501856
310PHKB160.999695307739181328247549487
311NOD2160.9939161063080419312350745131-50745134, 50745169, 50745172, 50745175-50745176, 50745199, 50745382, 50745385-50745386, 50745391, 50745522-50745525, 50745529, 50745894
312CYLD160.997554157931527286250826613-50826614, 50828275-50828279
313SALL1160.999245283018873397551175656-51175658
314RPGRIP1L160.9964539007092214394853672307-53672320
315SLC12A3160.9776915615906969309356920940, 56921842-56921852, 56921864-56921870, 56921881-56921907, 56921921-56921943
316COQ9160.973876698014632595757481420-57481434, 57481457-57481460, 57486821-57486826
317GPR56160.9869186046511627206457689349-57689364, 57689805, 57693325-57693329, 57693336, 57695726, 57695730-57695732
318CNGB1160.95207667731629180375657957223-57957225, 57973372, 57974158, 57984312-57984314, 57984320-57984323, 57991246-57991258, 57992355-57992383, 57993792, 57993892, 57993898, 57993919, 57994386-57994387, 57994418, 57994422, 57994793-57994819, 57996507, 57996878-57996905, 57996934-57996937, 58001055, 58001058-58001065, 58001071-58001073, 58001077, 58001108-58001134, 58001157-58001174
319TK2160.929653679653686592466583899-66583906, 66583941-66583976, 66584001-66584021
320HSD11B2160.8448275862069189121867465152-67465336, 67465403-67465405, 67465410
321LCAT160.81027966742252251132367973887, 67973896, 67973899, 67973930-67973931, 67973935-67973941, 67973981, 67974017-67974026, 67974034-67974038, 67974050, 67974101, 67974105-67974110, 67974131, 67974209, 67974212, 67976367-67976369, 67976396-67976445, 67976577-67976578, 67976613-67976618, 67976634-67976651, 67976769-67976796, 67976826-67976853, 67976873-67976879, 67976978-67977006, 67977058, 67977112-67977115, 67977952, 67977965-67977999
322CDH3160.92931726907631176249068679318-68679327, 68679546, 68679555-68679556, 68679559, 68679568-68679590, 68712067, 68716205-68716209, 68716315-68716327, 68718589-68718612, 68718695-68718696, 68718704-68718709, 68719191-68719216, 68721416, 68721482-68721503, 68721530-68721536, 68721594-68721616, 68725709, 68725746-68725753
323CDH1160.9962249905624810264968771348-68771357
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325AARS160.9910560715514326290770286624-70286636, 70287683-70287688, 70292059-70292062, 70296254, 70296385, 70301627
326HP160.9975429975433122172092204-72092206
327GCSH160.913793103448284552281129736-81129745, 81129763-81129788, 81129835-81129838, 81129856, 81129880-81129883
328GAN160.94035674470457107179481348719-81348737, 81348744, 81348748-81348749, 81348752-81348753, 81348762-81348826, 81348857-81348874
329MLYCD160.8468286099865227148283932804-83932822, 83932871-83932889, 83932892-83932893, 83932907-83932956, 83932985-83933014, 83933054-83933106, 83933117-83933120, 83933163-83933204, 83933227-83933234
330LRRC50160.94398530762167122217884179054-84179092, 84179141-84179142, 84182630-84182670, 84203925-84203949, 84209850-84209864
331FOXF1160.46754385964912607114086544176-86544198, 86544207-86544230, 86544232, 86544245, 86544248-86544312, 86544345-86544377, 86544388, 86544502-86544542, 86544583-86544620, 86544647-86544658, 86544695-86544751, 86544771-86544802, 86544843-86544951, 86544957-86544992, 86544999-86545032, 86545061-86545106, 86545125, 86546531-86546557, 86546589-86546611, 86546631, 86546664-86546665
332FOXC2160.01328021248341486150686600942-86601238, 86601253-86602441
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334CYBA160.3350340136054439158888709761-88709932, 88709944-88709979, 88712524-88712539, 88712551-88712552, 88712562-88712605, 88713236, 88713242-88713246, 88713522-88713523, 88713534, 88713549-88713564, 88714485-88714522, 88717364-88717421
335APRT160.0552486187845351354388876106-88876146, 88876166-88876248, 88876478-88876556, 88876842-88876964, 88877958-88878064, 88878228-88878307
336GALNS160.49585723390695791156988880874, 88880877, 88880883-88880887, 88880920, 88880933, 88884415-88884532, 88888997-88889036, 88889044-88889118, 88891179-88891277, 88893114-88893206, 88893215-88893246, 88898433, 88898455-88898480, 88901621-88901641, 88901654, 88901661, 88901713-88901715, 88901754, 88902243-88902257, 88902671-88902672, 88904054, 88904063, 88904101, 88904105, 88904113, 88907418-88907456, 88907492-88907502, 88908305-88908323, 88908359-88908365, 88909114, 88909126-88909146, 88909188-88909202, 88909209, 88909223-88909237, 88923166-88923285
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339TUBB3160.61345158906135523135389989810-89989831, 89989840-89989866, 89998979-89998980, 89998983, 89998986-89998996, 89999039, 89999903-89999909, 89999955, 89999982, 90001138, 90001231-90001267, 90001286, 90001317, 90001364-90001388, 90001425-90001428, 90001431-90001438, 90001465-90001475, 90001520-90001545, 90001564-90001566, 90001577, 90001596, 90001599, 90001632-90001646, 90001664-90001764, 90001778-90001808, 90001854-90001863, 90001875-90001911, 90001931-90001932, 90001937-90001946, 90001961-90001963, 90001995-90002013, 90002076-90002083, 90002104-90002160, 90002176-90002212
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341CTNS170.4123025768911170712033550773, 3552144-3552225, 3558351-3558352, 3558363, 3558536-3558538, 3558586, 3558601-3558605, 3558614-3558641, 3559781-3559880, 3559970-3560089, 3561299-3561317, 3561329-3561469, 3563152-3563173, 3563192-3563211, 3563226, 3563229-3563250, 3563255-3563264, 3563532-3563569, 3563583, 3563587-3563600, 3563610, 3563628, 3563644, 3563923-3563924, 3563930-3563973, 3564002-3564028
342CHRNE170.8508771929824622114824802122-4802147, 4802169, 4802176, 4802181, 4802296, 4802321-4802336, 4802401-4802402, 4802521-4802522, 4802553-4802574, 4802600-4802619, 4802622-4802632, 4802654, 4802657, 4802666-4802670, 4802763-4802786, 4802803-4802827, 4804106-4804112, 4804351, 4804358-4804360, 4804423, 4804426-4804433, 4804443-4804455, 4804468-4804481, 4805340, 4805345-4805358
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438SCN1B190.950433705080554080735521725-35521764
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455APOC2190.97385620915033830645452489-45452496
456BLOC1S3190.885057471264377060945682580-45682581, 45682654-45682663, 45682695, 45682744-45682747, 45682785, 45682789-45682790, 45682897-45682920, 45682937-45682944, 45682991-45683002, 45683013-45683015, 45683030, 45683033, 45683045
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461CRX190.99222222222222790048343031-48343037
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463BCAT2190.9728583545377432117949303007-49303008, 49303068-49303082, 49303238-49303247, 49303315, 49303338-49303341
464FTL190.933712121212123552849468855, 49468865, 49469103-49469120, 49469861-49469875
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466MED25190.89839572192513228224450321621-50321624, 50321695-50321702, 50321828-50321858, 50334123-50334142, 50334658, 50335410, 50338312-50338314, 50338412, 50338415-50338417, 50338796-50338815, 50338849-50338862, 50339004, 50339037, 50339041-50339047, 50339052-50339053, 50339146, 50339169-50339194, 50339505-50339529, 50339544-50339559, 50339582-50339604, 50339642, 50340114-50340125, 50340134, 50340169, 50340196-50340200
467PNKP190.9929757343550411156650364507-50364511, 50364869-50364870, 50365454, 50365652-50365653, 50370370
468MYH14190.94927180494191310611150726566, 50726570, 50728890, 50728895, 50747514-50747521, 50752995-50753001, 50762417-50762430, 50762507-50762515, 50764736-50764754, 50764774-50764801, 50764825-50764892, 50766569-50766579, 50766616-50766660, 50770134-50770157, 50770189-50770230, 50770242-50770263, 50774775, 50779286-50779291, 50812950, 50812953
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470ETFB190.991354466858799104151857687-51857695
471NLRP12190.85781544256121453318654297327, 54299162, 54301497-54301507, 54301571-54301583, 54301654-54301667, 54304512-54304553, 54307219-54307233, 54307316-54307327, 54307364-54307376, 54308534-54308538, 54308659-54308700, 54312869-54312902, 54312921, 54312928, 54312958-54312970, 54313060, 54313173-54313188, 54313256-54313258, 54313401-54313404, 54313463-54313512, 54313584-54313607, 54313611-54313612, 54313640, 54313661-54313682, 54313736-54313741, 54313792-54313806, 54313847-54313879, 54313973-54313977, 54313982-54313992, 54313995, 54314099-54314101, 54314162-54314168, 54314227, 54314270, 54314328-54314340, 54314377-54314379, 54314385-54314389, 54314393, 54314422-54314428
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474TNNT1190.6945500633713624178955644283-55644294, 55644301-55644328, 55645255-55645262, 55645277-55645295, 55645462-55645464, 55645468, 55645492-55645507, 55648477-55648481, 55648509, 55649329-55649330, 55652258-55652295, 55652303-55652328, 55652588-55652637, 55652664-55652670, 55657810-55657834
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478RPS720.9931623931623945853623246-3623249
479KLF1120.9727095516569242153910183844-10183885
480LPIN120.999625888514781267311911803
481MYCN20.82939068100358238139516082307-16082321, 16082385-16082414, 16082452-16082474, 16082540-16082590, 16082603-16082624, 16082647-16082673, 16082695-16082735, 16082809, 16082824-16082827, 16082836-16082843, 16082854, 16082903, 16082907-16082910, 16082957-16082966
482MATN320.994524298425748146120212277-20212283, 20212380
483APOB20.99452234881683751369221225022-21225052, 21225509-21225517, 21232803-21232804, 21266745-21266759, 21266766-21266769, 21266775-21266785, 21266788, 21266798-21266799
484POMC20.880597014925379680425384165-25384196, 25384347-25384360, 25384398-25384437, 25384460, 25384468, 25384559-25384565, 25384601
485HADHA20.9882198952879627229226414415-26414441
486OTOF20.85085085085085894599426693478, 26696416, 26696424, 26696890-26696896, 26696913-26696971, 26697381-26697409, 26697418-26697441, 26697451, 26697460-26697464, 26697475-26697497, 26697525, 26697529, 26698996-26699004, 26699022, 26699037, 26699102, 26699125, 26699157-26699171, 26699183, 26699759-26699840, 26699852-26699868, 26699880-26699886, 26699894-26699911, 26700040-26700099, 26700103-26700156, 26700306, 26700337-26700374, 26700519-26700569, 26700586, 26700604, 26700612-26700617, 26702137-26702140, 26702154-26702195, 26702252, 26702355-26702386, 26702400, 26702432-26702434, 26702478-26702498, 26703071-26703077, 26703677-26703698, 26703719, 26703724, 26703730, 26703737-26703743, 26703747-26703752, 26703756, 26703782-26703835, 26703863-26703877, 26705274-26705293, 26705334-26705403, 26705419, 26705429, 26705445-26705455, 26706393-26706396, 26707342-26707353, 26707366, 26707416, 26707467-26707469, 26707482, 26712126-26712157
487C2orf7120.997931212826488386729293645-29293652
488ALK20.999588731235862486329445458, 30143499
489XDH20.95102448775612196400231567588-31567589, 31569635-31569648, 31570388-31570433, 31570457, 31570507, 31570510, 31571169-31571215, 31572552-31572555, 31572582-31572595, 31572623, 31572691-31572693, 31572912-31572940, 31572947, 31572961, 31572964-31572986, 31573052, 31573058, 31573082, 31573085-31573089
490SPAST20.9692058346839557185132288935-32288950, 32288999-32289014, 32289086-32289090, 32289148-32289150, 32289211-32289224, 32289234-32289235, 32289304
491CYP1B120.82720588235294282163238301493-38301507, 38301626-38301634, 38301855, 38301913-38301937, 38301990, 38301999-38302009, 38302020-38302021, 38302024-38302055, 38302132-38302179, 38302195-38302212, 38302217-38302218, 38302228-38302240, 38302285-38302336, 38302362-38302363, 38302405-38302446, 38302475-38302483
492SOS120.9805097451274478400239249811, 39281918-39281926, 39283896-39283930, 39285814-39285823, 39285891-39285896, 39285922, 39285945, 39294818-39294832
493ABCG820.9910979228486618202244099132, 44099202-44099210, 44099427-44099434
494LRPPRC20.998088410991648418544222954, 44222996-44223002
495SIX320.974974974974972599945169361-45169363, 45169430-45169432, 45169565-45169577, 45169642-45169647
496EPCAM20.982010582010581794547596659-47596667, 47596700-47596707
497MSH220.9918003565062423280547630365-47630367, 47630376-47630377, 47630380, 47630455-47630471
498MSH620.94930198383542207408348010373-48010374, 48010377, 48010402-48010425, 48010434-48010437, 48010446-48010582, 48010594-48010632
499LHCGR20.997619047619055210048982759-48982761, 48982769-48982770
500FANCL20.995567375886525112858390631-58390635
501PEX1320.91171617161716107121261258554-61258567, 61258644, 61258744-61258763, 61258827-61258836, 61258908, 61258966-61259002, 61259026-61259032, 61259105, 61259218-61259233
502ATP6V1B120.9876783398184219154271163085-71163098, 71192186-71192190
503DYSF20.9866352201257985636071789015, 71789060, 71797811-71797812, 71797819, 71797829-71797830, 71801330-71801341, 71801430-71801457, 71838649, 71839880, 71847690-71847694, 71847709-71847739
504SPR20.978371501272261778673114795-73114811
505ALMS120.99888035828535141250473613032-73613034, 73679570-73679571, 73827900, 73827996-73828002, 73828342
506SLC4A520.998535442296435341474454185-74454189
507MOGS20.9932378679395417251474689008-74689009, 74689272-74689276, 74689774-74689775, 74692354-74692361
508SUCLG120.999039385206531104184686308
509GGCX20.9740887132191559227785781418, 85781422, 85785656, 85785660, 85786062-85786066, 85787986, 85787991, 85788000, 85788028, 85788032, 85788046, 85788103-85788108, 85788509-85788543, 85788549-85788551
510SFTPB20.84380453752182179114685888601-85888634, 85889195-85889232, 85890558-85890607, 85890803-85890804, 85890825, 85890828-85890829, 85890832, 85890870, 85890900-85890913, 85890964, 85890969, 85892439-85892441, 85892736-85892740, 85892745, 85892748, 85895254, 85895264-85895266, 85895281-85895299, 85895305
511REEP120.98514851485149960686459831, 86564617-86564624
512EIF2AK320.9797075499850868335188879131, 88883019, 88890027-88890029, 88926591-88926613, 88926617, 88926654-88926655, 88926666-88926675, 88926685-88926689, 88926727, 88926730-88926737, 88926765-88926767, 88926783-88926792
513TMEM12720.898186889818697371796930890-96930894, 96930984-96931008, 96931065-96931107
514SNRNP20020.9979722352207113641196951068-96951073, 96955078-96955084
515RANBP220.898397932816549839675109345588, 109347836-109347849, 109352136-109352147, 109352627-109352658, 109357110-109357116, 109363251-109363254, 109365424-109365426, 109367720-109367724, 109367841-109367874, 109368082-109368111, 109368355, 109368430-109368450, 109369456-109369482, 109369545-109369561, 109369895-109369905, 109370292-109370327, 109371385-109371424, 109371468-109371512, 109371656-109371662, 109371695-109371715, 109374952, 109374996-109375004, 109378557-109378570, 109378622, 109378651, 109381813-109381819, 109381990-109381996, 109382787-109382793, 109382843, 109382917-109382951, 109383051-109383090, 109383107-109383148, 109383204-109383236, 109383268-109383275, 109383340-109383371, 109383659-109383678, 109383700-109383739, 109383753-109383809, 109383964-109383986, 109384004-109384010, 109384146-109384170, 109384393-109384435, 109384466-109384501, 109384542-109384567, 109384590-109384634, 109384661-109384669, 109384782-109384825, 109384843-109384844
516MERTK20.98766666666667373000112656313-112656344, 112656369-112656373
517PAX820.99113082039911121353113994198-113994209
518GLI220.902121403066584664761121708966-121709014, 121728101-121728114, 121728142-121728182, 121729606-121729622, 121745992-121746032, 121746080-121746098, 121746116-121746151, 121746216-121746217, 121746296-121746340, 121746353-121746397, 121746411, 121746421-121746427, 121746502-121746510, 121746535-121746578, 121746585-121746600, 121746769-121746771, 121746804-121746816, 121746956, 121747117-121747123, 121747166-121747202, 121747369-121747376, 121747429, 121747460-121747467, 121747668, 121747979
519BIN120.838945005611672871782127806154, 127806178-127806209, 127807997-127808005, 127808017, 127808072, 127808378-127808387, 127808422, 127808431-127808440, 127808730-127808806, 127809847, 127811009, 127811012-127811021, 127811567-127811573, 127815049-127815063, 127815108-127815149, 127827623, 127827627, 127828389-127828392, 127864436-127864468, 127864485-127864490, 127864496-127864519
520PROC20.893217893217891481386128178867-128178881, 128178884-128178886, 128178949, 128178985, 128180502-128180508, 128180513-128180514, 128180517, 128180610-128180616, 128180634-128180709, 128180721, 128180727-128180728, 128180745, 128180872, 128180907-128180910, 128180983-128180984, 128183786-128183789, 128183792, 128184682, 128186191, 128186282-128186285, 128186323-128186334, 128186428
521CFC120.80357142857143132672131279058-131279067, 131280368, 131280373-131280391, 131280431-131280456, 131280467, 131280472, 131280475-131280476, 131280746, 131280777-131280818, 131280833-131280835, 131285297-131285320, 131285346, 131285351
522RAB3GAP120.916836388323152452946135848579-135848618, 135848654-135848656, 135848669-135848686, 135887587-135887610, 135887633, 135888122-135888125, 135888198-135888232, 135888274, 135888277-135888291, 135890485, 135890490-135890496, 135890500-135890551, 135891456, 135891474-135891484, 135891489-135891491, 135891516-135891518, 135891581-135891603, 135892869, 135892879, 135893453
523LCT20.99343015214385385784136555666-136555673, 136558195, 136558236-136558263, 136594158
524ZEB220.9923182441701283645145147439-145147466
525SCN2A20.9998338318378216018166237624
526SCN1A20.9988327497081975997166848838-166848844
527SCN9A20.9991573980451655934167060576-167060578, 167060735, 167099023
528ABCB1120.9997478567826513966169820732
529ITGA620.98840048840049383276173292517-173292531, 173292536, 173292547-173292554, 173292574-173292576, 173292592-173292596, 173292605, 173292646-173292650
530CHRNA120.98762736535662171374175618244-175618260
531HOXD1320.98740310077519131032176957667-176957673, 176957680-176957681, 176957685, 176957691, 176957697-176957698
532AGPS20.9994941831057211977178326671
533PRKRA20.998938428874731942179296824
534TTN20.999710717420829100248179444857, 179451447, 179499238, 179644020-179644023, 179644026-179644031, 179650750, 179659681-179659684, 179659819-179659823, 179659826-179659828, 179665326-179665327, 179666913
535CERKL20.929330831769861131599182468615-182468700, 182468708, 182468737, 182468757-182468780, 182468783
536CASP820.9987631416202821617202122994-202122995
537BMPR220.98299647096567533117203242259-203242260, 203332356, 203378463-203378466, 203378537, 203378550, 203379650-203379658, 203384816-203384819, 203384822-203384829, 203397412-203397431, 203420817-203420819
538NDUFS120.9775641025641492184207012276-207012278, 207017187-207017188, 207017212-207017214, 207017228, 207018343, 207018346-207018384
539FASTKD220.9990623534927322133207631634-207631635
540ABCA1220.9997431946584527788215910709, 215914502
541PNKD20.9982728842832521158219209623-219209624
542DES20.877565463552721731413220283224-220283246, 220283259-220283282, 220283285-220283288, 220283291, 220283353-220283354, 220283360-220283364, 220283447-220283453, 220283592-220283638, 220283646-220283677, 220283696-220283722, 220285309
543OBSL120.882270251273946705691220415559, 220415564, 220416251-220416263, 220416275-220416309, 220416318-220416332, 220416361-220416362, 220416367, 220416370-220416373, 220416395-220416426, 220416430, 220416435, 220416451-220416513, 220416834-220416858, 220416882-220416884, 220416936-220416938, 220417285-220417290, 220417306, 220417310-220417408, 220417590-220417723, 220417734-220417746, 220418344, 220418379-220418390, 220419197, 220420784, 220421362, 220422548, 220422566-220422568, 220424084, 220424093, 220424141-220424142, 220432630-220432634, 220435391-220435401, 220435505, 220435624-220435638, 220435647-220435674, 220435680, 220435686, 220435693-220435694, 220435699, 220435713, 220435720-220435754, 220435772, 220435775-220435786, 220435839-220435880, 220435899-220435933, 220435953-220435954
544PAX320.9993412384716711518223163268
545COL4A320.9992020746060245013228029443-228029446
546CHRND20.99227799227799121554233390926, 233390937, 233390960-233390966, 233396261-233396262, 233398646
547CHRNG20.999356499356511554233409240
548SAG20.999178981937611218234224738
549COL6A320.99339207048458639534238249157-238249164, 238271915-238271920, 238296716, 238303309-238303320, 238303478, 238303483, 238303486-238303492, 238303502, 238303532, 238303568-238303592
550AGXT20.578456318914334971179241808283-241808447, 241808587-241808604, 241808615-241808653, 241808685, 241808691-241808719, 241808732-241808770, 241810072-241810103, 241810783-241810831, 241810856-241810866, 241812396-241812417, 241814609-241814615, 241815371-241815377, 241816954-241816991, 241817018-241817048, 241817499-241817504, 241817516, 241818131-241818132
551D2HGDH20.367177522349949911566242674640-242674643, 242674656-242674683, 242674704-242674710, 242674727-242674769, 242674777-242674782, 242674795-242674800, 242674803, 242674814, 242674817-242674822, 242674837-242674870, 242674885-242674926, 242680448-242680483, 242681981-242681989, 242683142, 242683193-242683195, 242684132-242684155, 242684162-242684189, 242684232, 242684272-242684281, 242689566-242689709, 242690661-242690733, 242690736-242690739, 242690741-242690803, 242695264-242695348, 242695358-242695429, 242707125-242707384
552C20orf54200.98723404255319181410741852-741858, 744356, 744365-744371, 746126-746128
553AVP200.567676767676772144953063312, 3063328, 3063334-3063354, 3063367-3063373, 3063379-3063423, 3063437, 3063623-3063668, 3063674-3063705, 3063716-3063738, 3063773, 3063778, 3063781-3063783, 3063793-3063824
554PANK2200.956800934033867417133869790-3869794, 3869991, 3870003-3870013, 3870105-3870110, 3870124, 3870176-3870199, 3870232-3870247, 3870260-3870265, 3870273, 3870283-3870284, 3870356
555PRNP200.9986876640419917624680070
556THBD200.9890046296296319172823028668, 23029472, 23029543-23029544, 23029559, 23029583-23029587, 23029713-23029715, 23029900-23029905
557SNTA1200.91963109354414122151832000156-32000160, 32031118-32031120, 32031146, 32031172-32031198, 32031324-32031339, 32031341-32031345, 32031348-32031353, 32031355-32031408, 32031411-32031414, 32031420
558SAMHD1200.997873471557684188135579852-35579855
559HNF4A200.91087719298246127142543043147-43043150, 43047102, 43052658-43052690, 43052720-43052722, 43052737-43052786, 43052820-43052833, 43052842, 43052860-43052880
560ADA200.9835164835164818109243257765-43257767, 43280216-43280230
561CTSA200.9732798931195740149744520235-44520264, 44520571-44520580
562GNAS200.7113821138211421373857415181-57415211, 57415222, 57415231, 57415234-57415241, 57415257, 57415319-57415322, 57415328-57415356, 57415359, 57415386, 57415397, 57415400-57415411, 57415443, 57415447, 57415467-57415469, 57415499, 57415504, 57415534-57415535, 57415550, 57415576-57415602, 57415636-57415673, 57415681-57415692, 57415705, 57415719, 57415749, 57415779-57415810, 57415838
563GNAS200.85902376364804439311457428451-57428467, 57428506-57428507, 57428592-57428593, 57428961-57428966, 57429040, 57429060-57429107, 57429183-57429203, 57429209-57429248, 57429258-57429260, 57429263, 57429297-57429332, 57429420-57429426, 57429429, 57429433, 57429467-57429472, 57429480-57429509, 57429565-57429568, 57429572, 57429595-57429658, 57429661-57429694, 57429757-57429760, 57429771-57429776, 57429805-57429808, 57429878, 57429903-57429904, 57429919, 57429927-57429944, 57429989-57430020, 57430172-57430173, 57430252-57430278, 57430372-57430388
564COL9A3200.70948905109489597205561448417-61448494, 61448919-61448987, 61450579-61450594, 61450597-61450600, 61450617-61450618, 61451286-61451292, 61452535-61452538, 61453149-61453162, 61453474, 61453483-61453516, 61453943-61453948, 61455797-61455801, 61455830-61455834, 61455847-61455848, 61456320-61456373, 61457174-61457188, 61457197-61457222, 61457556-61457557, 61457560, 61457575-61457609, 61458123-61458171, 61458593-61458611, 61459298-61459318, 61460286, 61460289-61460292, 61460295-61460297, 61460980-61461003, 61461017-61461033, 61461120-61461122, 61461129-61461132, 61461140-61461141, 61461715-61461727, 61461764, 61461874, 61461882, 61461892-61461899, 61461912-61461914, 61461919-61461927, 61463514, 61464392-61464401, 61467545, 61467667-61467668, 61468561-61468580
565CHRNA4200.0663481953290871759188461978090-61978215, 61981005-61981817, 61981842-61981952, 61981962-61982002, 61982008-61982014, 61982038-61982080, 61982083-61982087, 61982104-61982118, 61982124-61982125, 61982128-61982207, 61982216-61982275, 61982295-61982334, 61982347-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
566KCNQ2200.424207712867511508261962038005-62038022, 62038028, 62038039-62038042, 62038045-62038047, 62038084, 62038087-62038117, 62038121-62038155, 62038180-62038183, 62038215-62038240, 62038252-62038253, 62038257, 62038261-62038295, 62038305, 62038319-62038320, 62038345, 62038351-62038355, 62038365, 62038371-62038378, 62038390-62038392, 62038401-62038423, 62038448-62038486, 62038511-62038537, 62038545-62038552, 62038568, 62038578-62038607, 62038618, 62038640-62038647, 62038659-62038689, 62038692-62038728, 62039779-62039783, 62039810-62039820, 62039865-62039873, 62044883-62044913, 62045465, 62045477, 62046273-62046303, 62046340-62046360, 62059751-62059769, 62059782-62059788, 62065164-62065192, 62065248-62065252, 62069978, 62069993-62070023, 62070030-62070054, 62070951-62071061, 62073759-62073826, 62073833-62073864, 62076012-62076187, 62076591-62076717, 62078100-62078181, 62078189-62078190, 62103521-62103816
567SOX182001155115562679519-62680315, 62680512-62680869
568APP210.9792477302204948231327394182-27394184, 27462270-27462280, 27542888-27542895, 27542901, 27542907-27542924, 27542932-27542938
569SOD1210.948387096774192446533032083-33032097, 33032133-33032135, 33032152, 33039604-33039608
570IFNGR2210.86686390532544135101434775850-34775922, 34793833-34793852, 34793883-34793903, 34793928-34793932, 34793937, 34799191, 34799292, 34799298-34799302, 34799307-34799314
571RCAN1210.847167325428211675935987071-35987091, 35987147-35987154, 35987166-35987168, 35987175-35987214, 35987242-35987285
572RUNX1210.9757449757449835144336164432-36164443, 36164469-36164471, 36164607-36164626
573CLDN14210.972222222222222072037833542-37833549, 37833578-37833585, 37833597, 37833825-37833827
574TMPRSS3210.9831501831501823136543795955-43795977
575CBS210.90760869565217153165644474010-44474026, 44474085, 44476937-44476964, 44478341-44478347, 44478969-44478984, 44479013-44479045, 44479075-44479078, 44479336-44479375, 44483169-44483170, 44485801-44485805
576CSTB210.949494949494951529745196089-45196102, 45196122
577AIRE210.191086691086691325163845705896-45705898, 45705905-45705915, 45705933-45706007, 45706440-45706508, 45706531, 45706535-45706596, 45706602, 45706612-45706614, 45706861-45706883, 45706890-45706898, 45706901-45706978, 45707016, 45707400-45707445, 45708228-45708264, 45708267, 45708277-45708281, 45708289-45708341, 45709540, 45709557-45709596, 45709607-45709617, 45709623-45709658, 45709871-45709913, 45709927-45709951, 45710978-45711021, 45711044-45711087, 45712192-45712229, 45712250, 45712264-45712284, 45712876-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
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880COL5A190.69476164582216845517137534034-137534142, 137582758-137582925, 137591755-137591968, 137593017-137593045, 137593063-137593179, 137619122, 137619165, 137620516-137620524, 137620564-137620571, 137620604-137620610, 137622194-137622196, 137623417-137623471, 137623487-137623509, 137623917, 137630611, 137630622-137630654, 137642410-137642462, 137642657-137642658, 137642665, 137642696-137642728, 137644435, 137644459-137644480, 137645696-137645710, 137645717-137645746, 137646119-137646172, 137648616-137648658, 137650090-137650111, 137650123-137650142, 137653771-137653824, 137655539-137655583, 137657538, 137657541-137657568, 137658846-137658882, 137659156-137659188, 137660263-137660265, 137660287, 137660292, 137664636-137664666, 137664676-137664680, 137666728-137666730, 137666753-137666758, 137671948-137671992, 137674516-137674553, 137676835-137676858, 137676876-137676886, 137676891, 137676894, 137676907-137676915, 137676918-137676923, 137676926-137676927, 137676941, 137677873-137677894, 137687108-137687113, 137687121-137687147, 137690297-137690301, 137693801-137693811, 137693826-137693853, 137694805-137694806, 137694814-137694823, 137696836-137696847, 137696865, 137696882-137696905, 137704327-137704333, 137705836-137705839, 137706685, 137707443-137707475, 137707797, 137709632, 137709641, 137710561-137710569, 137726916-137726933
881LHX390.329197684036398111209139089181-139089217, 139089229-139089253, 139089263-139089324, 139089331-139089375, 139089387-139089433, 139089459-139089468, 139089487-139089574, 139090498, 139090513-139090575, 139090585-139090612, 139090640-139090642, 139090651-139090666, 139090755-139090761, 139090767-139090834, 139090843-139090905, 139091524-139091540, 139091543-139091548, 139091566-139091630, 139091658-139091721, 139092580, 139092583, 139094792-139094885
882INPP5E90.329715762273912971935139325550-139325566, 139326276-139326437, 139326931-139326949, 139326967-139326968, 139326972-139327002, 139327010-139327020, 139327029-139327038, 139327415-139327444, 139327480-139327497, 139327510-139327527, 139327607-139327634, 139327649-139327654, 139327676-139327694, 139327714-139327731, 139328489, 139328503, 139328515-139328560, 139328570, 139328580, 139329192-139329230, 139329236-139329280, 139329296-139329315, 139333060-139333167, 139333180-139333207, 139333229-139333278, 139333284-139333674, 139333685-139333688, 139333691-139333846, 139333855-139333871
883NOTCH190.05972874282733472107668139390533-139390781, 139390792, 139390802-139391081, 139391091-139391596, 139391615-139391919, 139391940-139392010, 139393385-139393394, 139393411-139393422, 139393429-139393433, 139393447-139393448, 139393564-139393703, 139395004-139395299, 139396200-139396365, 139396453-139396495, 139396511-139396540, 139396724-139396940, 139397634-139397694, 139397702-139397729, 139397744, 139397753-139397774, 139399125-139399338, 139399352-139399466, 139399472-139399509, 139399519-139399556, 139399762-139400117, 139400125-139400333, 139400979-139401039, 139401057-139401091, 139401172-139401425, 139401767-139401810, 139401830-139401854, 139401872-139401889, 139402412-139402428, 139402444-139402591, 139402684-139402837, 139403322-139403523, 139404192-139404232, 139404265-139404266, 139404284-139404285, 139404294-139404303, 139404320-139404362, 139404374-139404376, 139404390, 139404402-139404413, 139405105-139405257, 139405604-139405723, 139407473-139407509, 139407516-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139409978, 139409984-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438497, 139438504-139438554, 139440178-139440238
884AGPAT290.16129032258065702837139568204-139568236, 139568247, 139568275-139568379, 139569187-139569252, 139571037-139571050, 139571071-139571082, 139571106-139571132, 139571413-139571435, 139571441-139571489, 139571500-139571518, 139571545-139571588, 139571875-139572008, 139581635-139581809
885SLC34A390.03277777777777817411800140126155-140126221, 140126228-140126239, 140126524-140126529, 140126539-140126542, 140126545, 140126550-140126596, 140126605-140126613, 140127027-140127155, 140127236-140127258, 140127281, 140127290-140127379, 140127456-140127567, 140127661-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129183, 140130404-140130868
886EHMT190.7218373107518610843897140513481-140513501, 140605429, 140605439-140605476, 140611078-140611634, 140622809-140622892, 140622901-140622934, 140622942-140622958, 140622964-140622967, 140669645, 140671160, 140671164-140671166, 140672342-140672355, 140672362-140672393, 140705913-140705914, 140706055-140706067, 140707852-140707856, 140707965-140707981, 140708892-140708919, 140708929-140708960, 140711974-140711977, 140728801-140728871, 140728936-140728941, 140728950-140728957, 140728963-140728976, 140729233-140729234, 140729240, 140729243-140729244, 140729269-140729270, 140729276-140729312, 140729328-140729329, 140729341-140729344, 140729355-140729368, 140729376, 140729394-140729405
887SHOXX0.44937428896473484879591633-591900, 591909, 595363-595368, 595377-595484, 595499-595561, 601734-601752, 601821, 605134, 605137-605138, 605153, 605219-605221, 605224-605226, 605233, 605241, 605256, 605280, 605284-605287
888CSF2RAX0.2659003831417695813051401597-1401672, 1404671-1404736, 1404762-1404809, 1407430, 1407439-1407440, 1407445-1407451, 1407457, 1407502-1407508, 1407514, 1407521, 1407652, 1407662, 1407681-1407688, 1407730-1407767, 1407776-1407781, 1409238-1409258, 1409291-1409329, 1409339-1409348, 1409354-1409388, 1413221-1413354, 1414320-1414349, 1419384-1419485, 1419491-1419519, 1422154-1422255, 1422816-1422912, 1424339-1424349, 1424368-1424420, 1428295-1428324, 1428372
889ARSEX0.9954802259887817702852949-2852956
890PHKA2X0.9765372168284887370818911703-18911705, 18911710, 18911713-18911716, 18911771-18911773, 18912326-18912332, 18912414-18912451, 18912497-18912503, 18913280-18913288, 18915298, 18915347-18915358, 18915450-18915451
891PDHA1X0.993179880647918117319362175-19362181, 19375772
892PHEXX0.998666666666673225022065308-22065310
893ARXX0.9709887507400849168925031502-25031503, 25031507, 25031525, 25031528-25031542, 25031596-25031597, 25031646, 25031650, 25031656-25031678, 25031777-25031779
894RPGRX0.677652500722751115345938144793-38144839, 38144912-38144918, 38144935, 38144940-38144965, 38144999, 38145010-38145015, 38145028-38145042, 38145084-38145089, 38145120-38145125, 38145147-38145181, 38145193-38145251, 38145267-38145311, 38145324-38145813, 38145821-38146021, 38146057, 38146060-38146099, 38146124, 38146128-38146153, 38146183-38146206, 38146237, 38146334, 38146343-38146345, 38146348-38146359, 38146369-38146401, 38147120-38147147
895NYXX0.9474412171507676144641332768-41332770, 41332835-41332845, 41333238-41333242, 41333273-41333294, 41333417-41333418, 41333459-41333468, 41333508-41333530
896ZNF41X0.9931623931623916234047307918-47307928, 47308662-47308666
897PORCNX0.993506493506499138648373004-48373012
898PQBP1X0.99624060150376379848758534-48758536
899SYPX0.986199575371551394249048202-49048214
900CACNA1FX0.93259184361308400593449061646-49061662, 49061677-49061678, 49061683-49061684, 49061688-49061715, 49061800, 49062140-49062141, 49062206-49062237, 49062972-49062983, 49063195-49063198, 49063206, 49063209-49063211, 49063220, 49063225, 49063230, 49063516-49063556, 49065002, 49065139-49065144, 49065761-49065762, 49065780-49065782, 49065787-49065800, 49065804, 49065807, 49066401-49066407, 49066832-49066863, 49067072-49067101, 49067111-49067146, 49067452-49067461, 49067505-49067515, 49067910-49067923, 49067929, 49068405-49068410, 49068712, 49068720-49068729, 49074977-49074980, 49076195-49076203, 49079014, 49079199-49079206, 49079257-49079264, 49079497-49079526, 49079542-49079546, 49079553
901FGD1X0.96465696465696102288654521559-54521562, 54521701-54521713, 54521741-54521780, 54521809-54521852, 54521861
902ALAS2X0.94160997732426103176455040008-55040009, 55040014, 55041359-55041364, 55042091-55042094, 55042136-55042140, 55043919-55043921, 55044026-55044027, 55046769-55046819, 55046843-55046854, 55047645-55047648, 55047668-55047676, 55051219, 55051272, 55052416-55052417
903ARX0.997466521896497276366765159-66765164, 66765167
904DLG3X0.998777506112473245469665174-69665176
905TAF1X0.9952481520591327568270586184-70586186, 70586189-70586212
906SLC16A2X0.9929424538545113184273641357-73641364, 73641377, 73641397-73641398, 73641861, 73641864
907ATRXX0.997325845701320747977041468-77041487
908PRPS1X0.997910135841172957106882525-106882526
909ZIC3X0.99145299145299121404136648985-136648987, 136651142-136651148, 136651217, 136651220
910SOX3X0.914988814317671141341139585994-139586007, 139586141-139586156, 139586412-139586437, 139586461-139586504, 139586507, 139586510, 139586515, 139586520-139586530
911FMR1X0.99104791995787171899147014101-147014111, 147019111-147019116
912AFF2X0.9974593495935103936147582630-147582639
913FAM58AX0.9863945578231310735152864472-152864480, 152864483
914SLC6A8X0.873165618448642421908152954030-152954086, 152954111-152954230, 152956783-152956787, 152959636-152959661, 152959817-152959829, 152960026-152960033, 152960073-152960085
915ABCD1X0.888293118856122502238152990773-152990786, 152990855-152990858, 152990861-152990863, 152990869, 152990872-152990904, 152990965-152991012, 152991106-152991126, 152991185-152991189, 152991239-152991245, 152991330-152991333, 152991428-152991431, 152991458-152991480, 152991531-152991533, 153006134-153006156, 153008441-153008450, 153008703-153008709, 153009080-153009108, 153009149-153009159
916L1CAMX0.864599894011665113774153128146-153128159, 153128279-153128285, 153128328-153128349, 153128935, 153128938-153128939, 153128989-153129004, 153129351-153129354, 153129440-153129450, 153130323-153130342, 153130367-153130374, 153130543-153130555, 153130590-153130609, 153131172-153131174, 153132104-153132121, 153132230-153132233, 153132307-153132313, 153132818-153132823, 153132862-153132865, 153133287-153133288, 153133317-153133318, 153133477-153133497, 153133510, 153133819-153133844, 153133899-153133913, 153134138-153134141, 153134350-153134352, 153135023, 153135050-153135086, 153135113-153135118, 153135312-153135332, 153135355, 153135365, 153135541-153135554, 153135599-153135602, 153135695, 153135873-153135875, 153135904-153135912, 153135949-153135954, 153136275-153136320, 153136376-153136403, 153136512-153136529, 153136571-153136588, 153136614-153136634, 153137607-153137615, 153138075-153138080, 153141216-153141222
917AVPR2X0.96594982078853381116153171304-153171324, 153171754-153171757, 153171857-153171869
918MECP2X0.99331997327989101497153363061-153363065, 153363100, 153363103-153363104, 153363107-153363108
919OPN1LWX0.997260273972631095153424291-153424293
920OPN1MWX0.99086757990868101095153453337-153453343, 153461421-153461423
921OPN1MWX0.96986301369863331095153490455-153490461, 153490592-153490614, 153498539-153498541
922FLNAX0.2639728096676758477944153577228-153577382, 153577403-153577404, 153577730-153577743, 153577750-153577933, 153578017-153578078, 153578115-153578169, 153578202-153578206, 153578209, 153578232-153578235, 153578399-153578417, 153578424-153578461, 153578478-153578498, 153578507-153578568, 153578575, 153579282-153579347, 153579363, 153579368-153579409, 153579964-153580011, 153580014, 153580017-153580019, 153580022-153580025, 153580029-153580058, 153580299-153580333, 153580355-153580357, 153580383-153580389, 153580549-153580591, 153580603-153580625, 153580649-153580815, 153580952-153581043, 153581143-153581189, 153581219-153581273, 153581380-153581447, 153581470-153581479, 153581498-153581572, 153581664-153581678, 153581688-153581800, 153581825, 153581926, 153581935, 153581946-153581963, 153581977, 153581989-153581995, 153582008-153582053, 153582064-153582084, 153582089, 153582283-153582296, 153582302, 153582332-153582411, 153582532-153582593, 153582606-153582629, 153582637-153582659, 153582749-153582768, 153582786-153582851, 153582984-153583079, 153583193-153583342, 153583371-153583373, 153583376-153583377, 153583380, 153583385-153583403, 153583417-153583440, 153585628-153585642, 153585802-153585885, 153585920-153585974, 153585979, 153585989, 153586567-153586723, 153586813-153586936, 153587369-153587436, 153587457-153587522, 153587614-153587774, 153587852-153588014, 153588100-153588101, 153588113-153588122, 153588140-153588217, 153588224-153588264, 153588271-153588273, 153588358-153588491, 153588501-153588549, 153588563-153588604, 153588648-153588655, 153588664-153588738, 153588745-153588778, 153588798-153588828, 153588847-153588955, 153589676-153589705, 153589721-153589724, 153589739, 153589750-153589910, 153590038-153590044, 153590068-153590155, 153590347-153590489, 153590610-153590700, 153590802-153590834, 153590852, 153590864, 153590867-153590897, 153590923-153590931, 153591029-153591046, 153591071-153591082, 153591122, 153591126-153591152, 153592390-153592403, 153592423-153592518, 153592532-153592533, 153592627-153592633, 153592637, 153592655-153592689, 153592711-153592721, 153592900-153593017, 153593038-153593087, 153593189-153593207, 153593218, 153593230-153593269, 153593284-153593292, 153593313-153593325, 153593507-153593556, 153593587-153593627, 153593717-153593758, 153593782-153593825, 153593835-153593837, 153593848-153593854, 153594392-153594397, 153594416-153594422, 153594429-153594466, 153594479-153594481, 153594499-153594522, 153594534-153594537, 153594547-153594583, 153594682-153594708, 153594750-153594798, 153594807-153594813, 153594819-153594838, 153594930-153594953, 153594973-153594995, 153595100-153595161, 153595765, 153595774-153595793, 153595815-153595851, 153595910-153595912, 153596011-153596077, 153596106, 153596210-153596257, 153596296-153596304, 153596311-153596358, 153596441-153596452, 153599241-153599243, 153599294-153599316, 153599349-153599351, 153599354-153599361, 153599370-153599507, 153599528-153599548, 153599554, 153599557-153599561, 153599571-153599613
923EMDX0.82614379084967133765153607866-153607873, 153607897-153607920, 153608050-153608070, 153608090-153608096, 153608140-153608148, 153608316-153608336, 153608649-153608661, 153609116-153609141, 153609497-153609500
924TAZX0.9239543726235760789153640181-153640200, 153640283-153640289, 153640481, 153640520-153640551
925G6PDX0.766178266178273831638153760215-153760241, 153760254, 153760294-153760295, 153760304-153760305, 153760422-153760438, 153760451-153760475, 153760489-153760495, 153760601-153760610, 153760638-153760643, 153760651-153760653, 153760668-153760670, 153760782-153760793, 153760820-153760824, 153760874-153760879, 153760937-153760956, 153760961, 153760971-153760974, 153760977, 153761015-153761017, 153761168-153761194, 153761291-153761301, 153761323, 153761327-153761338, 153761873-153761881, 153762297-153762314, 153762350-153762355, 153762553-153762588, 153762659-153762668, 153762706-153762711, 153763390-153763401, 153763450-153763461, 153763531-153763549, 153764154, 153764159-153764161, 153764173-153764183, 153764256-153764260, 153775030-153775036, 153775064-153775085
926IKBKGX0.95355191256831681464153770537-153770550, 153780334-153780337, 153780373-153780376, 153786749-153786753, 153786826, 153788746-153788774, 153789987, 153791069-153791074, 153791107-153791110
927IKBKGX0.983640081799598489153869077, 153869080, 153869853-153869858
928USP9YY0.9912623891497167766814888736-14888750, 14890035, 14890097-14890105, 14890170-14890176, 14890179-14890180, 14898511-14898517, 14898558-14898573, 14898629-14898635, 14898727-14898729
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
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
3HNMT-T105Ihomozygous0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
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-H1923Rhet unknown0.028Unknown
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-A618Vhet unknown0.366Unknown
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
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ELAC2-A541Thet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
2ELAC2-S217Lhomozygous0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1.5APOA5-A50Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5APOA5-S19Whet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5BLMH-I443Vhomozygous0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5LRP5-V667Mhet unknown0.041Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5LRP5-A1330Vhet unknown0.110Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.125RYR2-G1885Ehet unknown0.018Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLC35A1-T45Ahet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S214Nhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R87PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
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-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLCO1A2-E172Dhet unknown0.042Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SVOPL-F385Chomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1SVOPL-R170*homozygous0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1AKAP9-M463Ihomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-DE918AKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K921Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (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
1ERV3-L574Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ERV3-E573*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ERV3-R220*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC25A2-Y44Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC25A2-K2Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-H-D29Ahomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-P32Qhomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-E34MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-G109Shomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-R141Qhomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C3-S1619Rhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT9-G126GSGGGFGGGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G809Dhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-P643Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1MYO19-N176Shomozygous0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DSP-I305Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MYOC-K398Rhomozygous0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-S534Nhet unknown0.016Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATP7A-V767Lhomozygous0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-M1013IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
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
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHD-I60LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-S68NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-N152Thomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-M170RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-I172FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-S182ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E193KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E233QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-V238MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-V245Lhomozygous0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-G263RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.021 (benign)
1RHD-K267MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RHD-V306IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-Y311ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-G314VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-P323HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-S325IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-I342ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-M379Thomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E398VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DOCK8-A1970Phomozygous0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NHS-P551Shomozygous0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1NHS-F1319Lhomozygous0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCA4-P1948Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA4-R212Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1ATG9B-S782Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL23R-Q3Hhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1IL23R-L310Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL23R-R381Qhet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhomozygous0.626Unknown
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
1AK300656-R11*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-M373Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-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
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
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
0.625TTN-L26509Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625COL17A1-W1193*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.625COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA9-K1306Thomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ABCA9-N785Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5ABCA9-R353Hhomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
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
0.5MPND-P423Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-K307Nhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSEN54-V190Mhet unknown0.041Unknown
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
0.5ASXL3-N954Shomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ASXL3-V1652Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ASXL3-M1708Vhomozygous0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF271-S231Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PHC2-V475Mhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PHC2-A145Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5KIF2B-P417Shet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-R437Ghet unknown0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-G468Ehet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PIPOX-R211Chet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.842 (possibly damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5TSR1-H750Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ALDH3A2-P424Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABHD15-R448Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5SLC6A4-G56Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5DLX4-N44Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5GJB4-V52Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GJA9-T451Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5JPH3-ILKS206LLKThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JPH3-D641Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCGBP-R4909Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FCGBP-P4665Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5FCGBP-S4284Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5FCGBP-R2467Hhet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-N2089Dhomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-T1524Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.244 (possibly damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCEE-A76Vhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N1786Dhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4001Whet unknownUnknown
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
0.5DNAH6-V141Mhet unknown0.928Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-V2898Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (probably damaging)
0.5PSME4-S1371Thet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSME4-V1180Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PSME4-I872Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FHAD1-G651Rhomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FHAD1-M1262Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5FHAD1-I1325Vhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-D1529Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MSH6-L396Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.5THNSL2-G41Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THNSL2-D78Nhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.862 (probably damaging)
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC1I2-R613Whet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DYNC1I2-R616*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5COL3A1-A679Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-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)
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5NEB-I6534Vhomozygous0.422Unknown
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-S6081Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPT1-G57Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EPT1-L66Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ITSN2-A1534Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ITSN2-R1337Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ITSN2-V291Ihet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5LYPD4-T184Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ZNF254-K537Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF101-H127Rhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF562-G141Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF562-E93Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF491-R151*het unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A704Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCHO1-R186Qhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA21-K361KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA21-P119Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-T725Phomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LPIN1-P610Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), 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
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNG6-C252Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF880-V12Mhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-Y150Chet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.5ZNF180-T300Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF180-H289Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5ZNF180-W89Chet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.973 (probably damaging)
0.5PPP1R15A-R31Hhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PPP1R15A-A32Thet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5PPP1R15A-V199Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.929 (probably damaging)
0.5PPP1R15A-R251Phet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PPP1R15A-K277Ehet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PPP1R15A-A316Phet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5PPP1R15A-T597Ahet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ETFB-V318Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P94Shifthet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCC6-I319Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R928Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC24-Q102Shifthet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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)
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5MYO7A-L16Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAG1-K820Rhomozygous0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TDRKH-G257Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging)
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5CASQ2-T66Ahomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N2081Dhet unknown0.014Unknown
benign
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
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD52-Y415*het unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWF-D1472Hhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-V1572Ihet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5NCF2-H389Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCF2-K181Rhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
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)
0.5PHLDA3-R28Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
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
0.5CR1L-R116Ghomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-I139Vhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.089 (benign)
0.5CR1L-C207Yhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CR1L-G263Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR1L-N402Dhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CR1L-I455Vhomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-V500Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CC2D2B-Q401Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO4-G372Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhomozygous0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhomozygous0.248Unknown
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-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1462-R957Ghet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KIAA1462-E24Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KRT6C-G111Dhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TECPR2-V320Ihomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-I683Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-Q981Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5SEL1L-D162Ghet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CINP-R164Hhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5CINP-N53Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF23-T51Ihet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOD2-P268Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-L447Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR93-R19Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5WDR93-L66Hhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5WDR93-S254Thet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE8A-L55Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-V245Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5OVGP1-E676Qhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5MPHOSPH8-D460Yhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT4-R282Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDX55-V101Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5DDX55-N264Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shomozygous0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R2066Chet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2153Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC16-E486Khet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5TXNDC16-A180Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5NIN-S1837Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NIN-G1320Ehomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIN-Q1125Phomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-K276Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC16B-G1161Vhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPRH-K823Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-L226Phet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5POMZP3-V178Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LIFR-V785Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.033 (benign), Testable gene in GeneTests
0.5LIFR-H116Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5NIPBL-N674Shomozygous0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), 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-R328Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5AMACR-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-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
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
0.5PCSK1-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
0.5DDC-M217Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
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
0.5SPINK5-D106Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-D386Nhet unknown0.226Unknown
not reviewed
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
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLCO6A1-T654Rhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5SLCO6A1-A27Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMB4-N866Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM175A-D373Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.899 (probably damaging)
0.5AGPAT9-R386Khet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGAM-P1424Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA18-K292Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UNC5C-A841Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC5C-M721Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPA4L-L211Shomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA4L-I601Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-H286Rhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NEIL3-P443Lhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BBS12-D467Nhomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5PRSS12-A606Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PRSS12-R55Thet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
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
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-T164Ihet unknown0.011Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SERAC1-F47Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5TREML2-T129Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5USP49-D636Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BRPF3-E1075Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T49Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhomozygous0.354Unknown
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-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-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-S75Rhet unknown0.047Unknown
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-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G78Rhomozygous0.182Unknown
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-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shomozygous0.211Unknown
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-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.700Unknown
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
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-D1180Ehet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-TRRTTT1479Delhet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R7772Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A16-V252Ahet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.5SLC22A16-H49Rhomozygous0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5RSPH4A-V497Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-T579Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNORA33-L92Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM162B-A120Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.947 (probably damaging)
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP21A2-R103Khomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HK3-G246Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAML1-G97Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.403 (possibly damaging)
0.5JARID2-R492Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5MICA-R29Phet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G198Shomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PSORS1C1-E34Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5VWDE-F1485Chomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G1386Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C1050Yhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G1009Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C890Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-E869Khet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Y804Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G340Dhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BMPR2-S775Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-N583Dhet unknown0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DBH-N201Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FYCO1-R1140Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FYCO1-E994Khet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5FYCO1-R615Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5FYCO1-R250Qhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM75D1-P196Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CNOT10-T348Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.478 (possibly damaging)
0.5TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM6-Q1663Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5TRPM6-A384Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A3-T3069Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-T507Ahet unknown0.054Unknown
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
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDX58-R546Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5TTC3-M840Thomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-C1168Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC3-D1751Hhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-A1834Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SETX-I2587Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-R20Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V825Ihet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCD2-T789Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-N791Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-D124Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-LA1282PGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-E1991Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5TG-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TF-L3Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TF-G277Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TF-I448Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhomozygous0.353Unknown
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
0.5COL4A3-T781Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5MED12L-Q401Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MED12L-D610Yhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC39-R294Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5MCCC1-A664Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5CPO-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
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE7A-G50Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5STK36-K295Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5STK36-R477Whet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STK36-R583Qhomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-G1003Dhet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
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
0.5CXCR1-R335Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA1407-E696Dhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5KIAA1407-R374Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.375COL9A2-G612Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HTT-VF2189DPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LHCGR-Q18QLQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-P152Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GVINP1-K1097Rhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GVINP1-M1065Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GVINP1-D321Nhomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RTN3-S23Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RTN3-V452Ahomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLCNKA-R83Ghet unknown0.600Unknown
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
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25HSPG2-R3632Qhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-E3409Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-A3168Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-S2995Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-G1230Shet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-R1186Qhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NR_015397-V62Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_015397-Y101Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGF2R-D1317Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IGF2R-R1619Ghet unknown0.911Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A9Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-H20Rhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-V91Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OR8U8-IS109TAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-S112Chet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153YSIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-R165Chet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S223Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-H229Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USP35-T655Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25USP35-I677Vhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USP35-A876Phomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHDC1-A935Thomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.25AHDC1-T99*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-P407Lhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PEX2-C184Rhet unknown0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PPP1R15B-E363Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PPP1R15B-N308Shomozygous0.967Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-V257Mhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-R270*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FCGR3A-Y194Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25NR_001296-G49Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-I53Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-S54Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-Q56Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Nonsense mutation
0.25NR_001296-Q56Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Nonsense mutation
0.25NR_001296-I103Thomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25C1orf175-S23Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf175-Y306DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf175-E316GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf175-V509AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf175-H618RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf175-V1099Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PTCH1-P1315Lhet unknown0.296Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25PTCH1-L50Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OPN4-A135Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OPN4-T405Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CALHM1-PL85RPhet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CALHM1-PL85RPhet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAST2-D388Ehet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAST2-G727Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTCHD3-D473Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP3A7-R409Thet unknown0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EIF4H-M180Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EIF4H-E248Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CNTNAP3-R845Hhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNTNAP3-E812Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CNTNAP3-E775Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25ZNF273-L361*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF273-E461Dhomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.174 (benign)
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25GUSB-L649Phomozygous0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GUSB-N631Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HIST1H2BE-A8Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HIST1H2BE-G27Shet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF439-E13*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF439-L427Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25DLL3-L218Phet unknown0.593Unknown
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
0.25SLC7A9-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
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR1-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)
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25FRG2C-G155Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FRG2C-R161Khet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.25NM_018029-S46Phomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_018029-R84Shifthet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25NM_018029-Y164*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NM_018029-I193Vhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_018029-L256Fhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25SIGLEC1-A974Vhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25SIGLEC1-H919Phet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIGLEC1-R864*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SIGLEC1-K239Rhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SIGLEC1-V221Mhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.25ASXL1-S150Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ASXL1-G645Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ASXL1-L814Phomozygous1.000Unknown
not reviewed
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
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AFF3-H477Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AFF3-S383Nhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IDH1-*415Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IDH1-A412Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGA6-A380Thet unknown0.316Unknown
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
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VSIG10L-E344Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLB1-V14Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLB1-P10Lhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCRNA00115-Q163*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NCRNA00115-V155Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
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
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25GGT5-R437Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GGT5-K330Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGT5-Q127*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25HPS4-Q620Hhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-V547Mhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCF20-S722Ghet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCF20-M405Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.25TCF20-G56GSGSSGSGSGhet 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
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAG6-S619PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAG6-T391Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PABPC3-M326Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PABPC3-V365Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf23-K116NKQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25DDHD1-H118Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DDHD1-S113Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCE-A502Thet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYS-R2326Qhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1873Vhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-S1517Ghet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-R1515Whet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1451Thet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1361Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q1325Ehet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-I1263Vhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-Q571Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25COL12A1-G3058Shomozygous0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.952 (probably damaging)
0.25COL12A1-I1738Thomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL12A1-T1046Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TAS2R46-W250*homozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25TAS2R46-L228Mhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25TAS2R46-F26Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD180-F229*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CD180-I223Vhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
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
0.25CENPE-S1911Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CENPE-Q1875*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-A1739Vhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y1699Chet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1645Vhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1616Rhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V1505Mhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1268Shomozygous0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T492Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L173Shomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K77Nhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
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
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-V99Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-V99Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FBXO38-S592Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBXO38-T629Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0NF1-I679Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0SIAE-M89Vhet unknown0.040Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0ACAD8-S171Chet unknown0.018Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0ESCO2-P140Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,701,735,727 bases (94.5% of callable positions, 87.7% of total positions)

Coding region coverage: 30,512,862 bases (91.7% of all genes, 92.9% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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