hu6EDC7E - GET-Evidence variant report

Variant report for hu6EDC7E

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1ABCA4-P1380LHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.000185908Reported to cause Stargardt Disease in a recessive manner, leading to progressive vision lose and eventual blindness. Speculated to be associated with age-related macular degeneration.1
2RYR2-G1886SHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0613424Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.1
3PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
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
5FCGR2B-I232TLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.132664A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.1
6APOA5-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
7rs5186LowLikelyLikely 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
8RET-R982CLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.016174Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis.1
9FANCG-R513QLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00715746Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance.1
10ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Homozygous
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
11SP110-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
12TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
13HFE-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
14BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
15ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
16CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
17KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
18TGFB1-T263ILowUncertainUncertain protective

Dominant, Heterozygous
0.0205429Carriers may be less likely to have cleft lip and palate congenital deformity.1
19IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
20COL6A3-D2831HLowLikelyLikely benign

Unknown, Homozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
21NEFL-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
22CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
23MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
24FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
25LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Homozygous
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
26RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Homozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
27WFS1-R456HLowUncertainUncertain benign

Unknown, Heterozygous
0.0454545Reported benign in ClinVar1
28ATM-S707PLowUncertainUncertain benign

Unknown, Heterozygous
0.00818148Probably not pathogenic, several papers conclude it is not associated with breast cancer.1
29VWF-G2705RLowUncertainUncertain benign

Unknown, Homozygous
0.0460123Probably benign, seems to be considered an uncommon polymorphism.1
30GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
0.0716676This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).1
31RP1-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
32PHYH-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
33PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
34MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
35APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
36PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
37PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
38THBD-A473VLowUncertainUncertain benign

Unknown, Heterozygous
0.140387While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.1
39TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
40TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
41SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
42TPCN2-G734ELowUncertainUncertain benign

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

Exome coverage: 31100148 / 33212919 = 93.64%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.08781362007168555996138955553-955753, 957581-957592, 957600-957842, 970657-970704, 976045-976260, 976553-976777, 976858-976885, 976899-976932, 976937-976992, 977000-977082, 977336-977351, 977362-977363, 977383-977384, 977393, 977404-977542, 978619-978681, 978702-978837, 978918-979112, 979203-979222, 979239-979261, 979272-979314, 979322-979403, 979489-979637, 979714-979785, 979793-979803, 980541-980636, 980648-980653, 980739-980887, 980897-980903, 981128-981178, 981188-981256, 981357-981366, 981383-981458, 981540-981571, 981593-981639, 981777-981849, 981857-982115, 982200-982315, 982335-982337, 982707-982779, 982790-982834, 982953-983011, 983020-983037, 983058-983067, 983156-983275, 983392-983542, 983555-983745, 984247-984439, 984616-984771, 984787-984789, 984806, 984815-984820, 984830-984831, 984946-984950, 984962-984964, 984977-985018, 985039-985175, 985283-985404, 985613-985709, 985807-985971, 986106-986217, 986633-986749, 986833-986981, 986991-987008, 987108-987195, 989133, 989147-989256, 989287-989320, 989333-989357, 989828-989890, 989901-989931, 990204-990361
2GABRD10.2987490802060395313591950863-1950930, 1956381-1956439, 1956445-1956468, 1956479-1956493, 1956773-1956784, 1956839-1956840, 1956957-1957063, 1957068-1957079, 1957088-1957177, 1959016-1959035, 1959076-1959094, 1959601-1959602, 1959662-1959671, 1959704-1959724, 1960550-1960612, 1960619-1960641, 1960655-1960660, 1960664-1960694, 1960990-1961021, 1961030-1961032, 1961038-1961055, 1961087-1961111, 1961124-1961130, 1961134-1961154, 1961167-1961201, 1961422-1961425, 1961436-1961477, 1961490-1961513, 1961530-1961549, 1961567-1961630, 1961648-1961721
3PEX1010.696228338430172989812337239, 2337254, 2337261-2337262, 2337267-2337272, 2337923-2337943, 2337952-2337981, 2338032, 2338038, 2338237-2338266, 2338280-2338290, 2338306, 2338314, 2338321-2338322, 2338326, 2339961, 2340000-2340034, 2340125-2340158, 2340212-2340217, 2340277, 2343830-2343941
4NPHP410.935061901424927842815923973-5923976, 5924442-5924449, 5935045-5935071, 5935128-5935160, 6012861, 6027388-6027394, 6029147-6029155, 6038330-6038473, 6046219-6046263
5ESPN10.644834307992291125656485016-6485080, 6485087-6485309, 6488304, 6488317, 6488322, 6488325, 6488333, 6488343, 6488376-6488392, 6488426-6488445, 6488460-6488479, 6500373-6500401, 6500411-6500439, 6500449-6500493, 6500686-6500690, 6500711-6500712, 6500726, 6500750-6500765, 6500768, 6500777-6500799, 6500819-6500857, 6500864-6500868, 6501029-6501065, 6505726-6505738, 6505779, 6505839-6505864, 6505886-6505920, 6505931-6505940, 6508727-6508766, 6508811-6508814, 6508828-6508831, 6508854, 6508861, 6508885, 6508922-6508957, 6508966-6508999, 6509016-6509023, 6509053-6509078, 6509100-6509106, 6509139-6509151, 6511692, 6511927-6511964, 6512127-6512154, 6517289
6PLEKHG510.9184697397303226031896527891-6527896, 6527901, 6527945-6527951, 6528012, 6528052, 6528106, 6528166, 6528176-6528177, 6528179, 6528254-6528261, 6528266, 6529183-6529185, 6529255, 6529485-6529490, 6530351-6530353, 6530681-6530687, 6530822-6530865, 6530919-6530921, 6530924-6530944, 6531082-6531097, 6531584-6531609, 6532644, 6532658, 6532661, 6533407, 6534109-6534138, 6534544, 6534553, 6534625-6534647, 6535111-6535128, 6535162-6535164, 6535561, 6535572, 6536032, 6556565-6556566, 6556577-6556579, 6556588-6556590, 6556603-6556605, 6556624, 6556629, 6557380-6557383
7PEX1410.932098765432177113410535055-10535059, 10684438-10684453, 10684457, 10689642-10689663, 10689687-10689694, 10689848, 10690002-10690025
8TARDBP10.9445783132530169124511082326-11082362, 11082418, 11082582-11082605, 11082660-11082666
9MASP210.79330422125182426206111094898, 11094909, 11097782-11097822, 11097839-11097843, 11102932-11102941, 11102956-11102983, 11102994-11102998, 11103015-11103016, 11103024, 11103027, 11103042-11103043, 11103056-11103079, 11103402-11103419, 11103444-11103451, 11103474-11103527, 11103546-11103592, 11105465-11105482, 11105498-11105500, 11105506-11105512, 11105517, 11105522, 11105552-11105564, 11105568, 11105575, 11105581, 11106642-11106644, 11106659-11106665, 11106774-11106785, 11106970, 11106974-11106984, 11106987, 11106994, 11106999, 11107054-11107086, 11107105-11107118, 11107129-11107176
10MTHFR10.9142567224759169197111853971-11853997, 11854091-11854127, 11854553, 11854850-11854867, 11855161-11855181, 11855213, 11855313, 11861293-11861330, 11862956, 11862959, 11862964-11862973, 11862976, 11863105-11863116
11PLOD110.9821428571428639218411994837-11994845, 11994874, 12023682-12023683, 12025635, 12025639, 12026362-12026373, 12030748-12030749, 12030863-12030873
12CLCNKA10.8546511627907300206416355270, 16355651-16355652, 16356285-16356288, 16356519-16356533, 16356978-16357038, 16357053-16357054, 16357067-16357076, 16357078, 16357096-16357131, 16357144-16357169, 16358214-16358226, 16358698-16358708, 16358769-16358786, 16358938-16358957, 16358962, 16358971-16358972, 16358974-16358978, 16358990-16359000, 16359003-16359021, 16360106-16360147
13CLCNKB10.84641472868217317206416371067, 16372119-16372165, 16373044-16373052, 16374410, 16374479-16374485, 16375060-16375064, 16375654-16375665, 16377422-16377427, 16377462-16377466, 16377472, 16377476-16377478, 16377487-16377491, 16377539-16377543, 16377973-16377983, 16378212-16378218, 16378308-16378315, 16378725, 16378728-16378743, 16378750-16378756, 16378762-16378807, 16378828-16378868, 16378881-16378897, 16380139-16380152, 16380194-16380196, 16381969-16381973, 16381976-16382001, 16382170-16382173, 16382992-16382995
14ATP13A210.96810612475303113354317312731-17312736, 17312739-17312740, 17312764, 17312800-17312809, 17313610-17313630, 17314826-17314834, 17314916-17314927, 17314953-17314954, 17314965-17314967, 17319011, 17322472, 17322587, 17322633-17322639, 17323535-17323541, 17323545-17323546, 17323555, 17323568-17323571, 17326510-17326515, 17326564-17326566, 17326577-17326579, 17326629-17326637, 17338224, 17338228
15ALDH4A110.999408983451541169219216519
16PINK110.998854524627722174620960388-20960389
17ALPL10.999365079365081157521896853
18HSPG210.928506375227699421317622149809-22149841, 22149859-22149946, 22149972, 22149975-22149981, 22150124-22150164, 22150183-22150198, 22150648-22150691, 22150834-22150840, 22151047-22151078, 22151106-22151108, 22151197-22151198, 22151255-22151272, 22154387, 22154535-22154547, 22154577-22154578, 22154582-22154593, 22154596-22154598, 22154619-22154645, 22154789-22154808, 22154819-22154821, 22154832-22154836, 22154845, 22154891, 22155350-22155393, 22155432, 22155507-22155527, 22155559-22155565, 22155907-22155934, 22156023-22156030, 22156033, 22156037, 22156509-22156560, 22156579-22156580, 22157498-22157511, 22165901-22165913, 22168082-22168087, 22168586, 22173051, 22173945-22173954, 22174536, 22175152, 22175483, 22176866-22176908, 22178039-22178057, 22181113-22181120, 22181208-22181211, 22181404, 22181414-22181425, 22182040-22182047, 22186076, 22186095-22186104, 22186121-22186163, 22186338-22186340, 22186352, 22186369-22186405, 22186423, 22186464-22186470, 22186483, 22186487, 22186670-22186696, 22186702-22186708, 22188250-22188251, 22188257, 22188271, 22188574, 22199143-22199160, 22199510-22199511, 22199533, 22199539, 22202152-22202158, 22206729, 22206859, 22206862-22206864, 22206994-22207004, 22217112-22217113, 22263648-22263710
19WNT410.9214015151515283105622456328-22456333, 22469339-22469415
20RPL1110.99068901303538553724019173-24019177
21FUCA110.9800142755174928140124194448, 24194467, 24194473, 24194569-24194575, 24194728-24194745
22LDLRAP110.985976267529671392725870250-25870254, 25870262-25870266, 25893433-25893435
23SEPN110.87529976019185208166826126722-26126904, 26136199-26136223
24ZMPSTE2410.998599439775912142840737573, 40756543
25COL9A210.9942028985507212207040769256, 40770033-40770043
26KCNQ410.87164750957854268208841249766-41249780, 41249801, 41249807-41249817, 41249828-41249830, 41249834, 41249838-41249888, 41249896, 41249917, 41249920, 41249927-41249931, 41249937-41249973, 41249982-41249988, 41249999-41250041, 41284177-41284215, 41284249-41284272, 41284276, 41284279-41284280, 41284292-41284313, 41296801, 41296967-41296968
27CLDN1910.970370370370372067543201674-43201679, 43203960-43203973
28LEPRE110.998643147896883221143212386-43212387, 43232612
29SLC2A110.9885057471264417147943424305-43424321
30STIL10.999741401603311386747726091
31DHCR2410.9871050934880720155155352591-55352610
32PCSK910.9749879749879752207955505553-55505555, 55521668-55521703, 55521734-55521740, 55524234, 55524257, 55524268, 55524272-55524274
33COL11A110.9934029686641365457103364238-103364268, 103364277, 103364281, 103488384-103488386
34GSTM110.50837138508371323657110230496-110230531, 110230798, 110230829-110230867, 110231298-110231304, 110231307, 110231311-110231312, 110231326, 110231680, 110231691, 110231714, 110231721, 110231724-110231744, 110231751, 110231871-110231947, 110232893-110232914, 110232921-110232932, 110232937-110232944, 110232951, 110232954, 110232965, 110232975-110232988, 110233076-110233141, 110233180-110233186, 110235917
35NOTCH210.980177993527511477416120539665-120539714, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572547, 120572569-120572575, 120572609-120572610, 120611964, 120612006
36PRPF310.98976608187135212052150315895, 150315903, 150315916-150315926, 150325436-150325438, 150325441-150325445
37FLG10.9783357951747926412186152276487-152276493, 152276931, 152278247, 152278406-152278437, 152278542, 152278548, 152278560, 152279212, 152279219, 152279378-152279409, 152279663, 152280614, 152281350-152281356, 152282271, 152282293-152282308, 152282418, 152282562, 152282568, 152282577, 152283161-152283170, 152283219, 152283502-152283549, 152283902-152283908, 152284062-152284064, 152284069, 152284074-152284077, 152284189-152284217, 152284239, 152284242, 152284610, 152285159, 152285216-152285218, 152285844, 152286390-152286394, 152286435, 152286792-152286796, 152286799, 152286876-152286891, 152287012-152287027, 152287091
38CHRNB210.9986746189529521509154540521-154540522
39GBA10.9983291562238921197155186729, 155186742
40GBA10.99006828057107161611155207994-155208009
41PKLR10.9965217391304361725155269984, 155269989-155269993
42LMNA10.9559082892416225567156105004, 156105014-156105017, 156105027-156105028, 156105035-156105044, 156105740-156105743, 156105829-156105832
43LMNA10.96992481203008601995156104742-156104749, 156105004, 156105014-156105017, 156105027-156105028, 156105035-156105044, 156105740-156105743, 156105829-156105832, 156108279-156108301, 156108308, 156108324, 156108329, 156108412
44SEMA4A10.9991251093613322286156131229-156131230
45NTRK110.9983270598076142391156830765-156830768
46SDHC10.998039215686271510161332165
47F510.99550561797753306675169510380, 169510499-169510527
48DARS210.9958720330237481938173794457-173794463, 173802623
49HMCN110.99988171279868216908185891617, 185892556
50CDC7310.9993734335839611596193091331
51ASPM10.99923327582902810434197069901-197069907, 197111727
52PSEN210.97921306607275281347227071452-227071454, 227071480-227071482, 227071524-227071525, 227071597-227071616
53ADCK310.927469135802471411944227149250-227149251, 227152824, 227152827-227152835, 227152878, 227152882, 227152906-227152935, 227153041-227153044, 227153425-227153428, 227169770, 227169778-227169782, 227169788, 227169791, 227169833-227169839, 227170395, 227170398-227170403, 227170595-227170596, 227171468-227171475, 227171801-227171807, 227171851-227171852, 227171910-227171922, 227172338-227172356, 227172964-227172974, 227174398-227174402
54GJC210.1340909090909111431320228345460-228345489, 228345498-228345508, 228345516-228345517, 228345548, 228345566-228345625, 228345643, 228345646, 228345649-228345673, 228345690-228345724, 228345741-228345961, 228345971-228346183, 228346189-228346218, 228346225-228346254, 228346264-228346565, 228346588-228346637, 228346649-228346779
55ACTA110.9929453262786681134229568017-229568018, 229568396-229568401
56LYST10.998334210064881911406235907279-235907281, 235907364-235907370, 235907373, 235944240-235944247
57NET1100.99944165270798117915454716
58GATA3100.99775280898876313358100728, 8100731-8100732
59OPTN100.991926182237614173413151239-13151246, 13151266-13151271
60PHYH100.9823008849557518101713341968-13341969, 13342001-13342016
61DCLRE1C100.9990379990382207914981867-14981868
62PTF1A100.8429584599797415598723481651-23481666, 23481669-23481670, 23481704, 23481707-23481726, 23481757-23481781, 23481790-23481816, 23481869-23481927, 23481932, 23481943, 23481955, 23481974, 23482042
63MASTL100.9829351535836245263727448582, 27448588-27448596, 27450084-27450090, 27459119-27459120, 27459127, 27459131, 27459271, 27459419, 27459574-27459575, 27459670, 27469980-27469990, 27470472-27470479
64RET100.85739910313901477334543572707-43572779, 43595920-43595921, 43595929-43595935, 43595996-43596032, 43596094-43596111, 43597853-43597854, 43597980-43598007, 43598051-43598077, 43600409-43600442, 43600455-43600492, 43600501-43600529, 43600556-43600588, 43600598-43600619, 43601846-43601852, 43601947-43601949, 43601955, 43601962-43601971, 43604490, 43606707-43606720, 43606856-43606868, 43606903-43606913, 43607589-43607596, 43608373-43608375, 43610149-43610173, 43612162, 43614993-43615016, 43615043-43615046, 43615094, 43615156
65ERCC6100.9872824631860857448250738767-50738793, 50740765, 50740786-50740810, 50740852, 50740855-50740856, 50740864
66CHAT100.996884735202497224750822373-50822379
67PCDH15100.999320767532694588955755513, 55826596, 55826609-55826610
68NODAL100.997126436781613104472201332, 72201345, 72201348
69SLC29A3100.995798319327736142873122203-73122208
70CDH23100.970863166268892931005673439244, 73439248-73439249, 73442257-73442258, 73447446-73447471, 73455268-73455269, 73461806, 73461968, 73462351-73462374, 73462451, 73464668-73464678, 73464769-73464812, 73464818-73464841, 73464850-73464887, 73468883-73468884, 73494033, 73494064-73494065, 73494068-73494070, 73500681-73500694, 73501451-73501469, 73501652-73501659, 73550901-73550905, 73556906-73556924, 73569805, 73569810-73569813, 73571174-73571177, 73571714-73571738, 73572247-73572254, 73572548
71VCL100.9950073421439117340575758101-75758117
72LDB3100.95009157509158109218488466322-88466359, 88466386-88466404, 88466462-88466465, 88469673-88469674, 88469796-88469798, 88476157, 88476181-88476185, 88476196, 88476228-88476231, 88476235, 88476338-88476344, 88476428-88476438, 88476516-88476528
73BMPR1A100.995622263914957159988683143-88683149
74GLUD1100.9928443649373912167788854388-88854389, 88854402-88854408, 88854512-88854514
75FAS100.9851190476190515100890768704-90768718
76HPS1100.9681861348528672106100177358-100177384, 100177394-100177429, 100177980, 100177996, 100178012-100178013
77HPS6100.97250859106529642328103825324-103825348, 103825386-103825389, 103825396, 103825440-103825454, 103825486-103825494, 103825597-103825603, 103825691-103825692, 103825747
78SUFU100.9993127147766311455104353423
79COL17A1100.9982198486871484494105816914-105816921
80EMX2100.992094861660086759119302797, 119302938-119302940, 119302946, 119302953
81BAG3100.99363425925926111728121411347-121411357
82HTRA1100.762300762300763431443124221176-124221389, 124221395-124221413, 124221428-124221480, 124221493-124221529, 124221572-124221591
83UROS100.99373433583965798127477445-127477449
84HRAS110.44035087719298319570532669-532742, 532754-532755, 533453-533501, 533529-533535, 533538, 533603-533604, 533610-533611, 533766-533798, 533817-533822, 533837-533872, 533920-533944, 534212-534246, 534268-534310, 534319-534322
85TALDO1110.716962524654832871014747482-747578, 755969, 758993, 760140, 763344-763433, 763443-763450, 763497-763519, 763772-763785, 763822, 763826, 763865-763912, 764306, 764823
86SLC25A22110.13683127572016839972791915-792068, 792144-792204, 792209-792214, 792306, 792319-792352, 792371-792403, 792410-792419, 792435, 792438, 792447-792458, 792553-792669, 792678-792727, 792870-792988, 793532, 793539-793573, 793590-793593, 793616-793619, 794458-794485, 794492-794513, 794776-794901, 794987-795006
87PNPLA2110.362376237623769661515819719-819905, 821628-821632, 821658-821659, 821718-821732, 821751-821753, 821809, 821815, 821958-821971, 822000, 822021-822023, 822401-822432, 822465-822482, 822537, 822545-822552, 823527-823539, 823553-823554, 823563-823587, 823694-823712, 823723-823758, 823767-823855, 823998-824130, 824314-824325, 824332-824345, 824359-824407, 824417-824436, 824536-824693, 824705-824736, 824766-824773, 824777-824815, 824820-824822, 824840-824862
88CTSD110.3042776432606986212391774745-1774755, 1774768, 1774781-1774833, 1774846-1774900, 1775033-1775050, 1775073-1775094, 1775114-1775131, 1775230-1775271, 1775293-1775368, 1778555-1778665, 1778683-1778727, 1778745-1778779, 1780199-1780223, 1780250-1780253, 1780256-1780286, 1780293-1780309, 1780754-1780795, 1780804-1780869, 1782558-1782595, 1782609-1782666, 1782673-1782698, 1785022-1785089
89TNNI2110.548269581056472485491861454-1861468, 1861633-1861674, 1861760, 1861764, 1861769, 1861779-1861841, 1861883-1861886, 1862087-1862096, 1862284-1862306, 1862318-1862348, 1862365-1862369, 1862372-1862378, 1862388-1862424, 1862712, 1862719-1862725
90TNNT3110.213642213642216117771944278-1944287, 1946329-1946346, 1947925-1947926, 1947936-1947939, 1950353-1950373, 1951040-1951054, 1953712-1953715, 1954951-1954981, 1954988-1955067, 1955161-1955214, 1955221-1955238, 1955562-1955566, 1955575-1955675, 1955776-1955777, 1955788, 1955806-1955885, 1956059-1956119, 1956142-1956149, 1958193-1958233, 1959668-1959722
91H19110.8991596638655510810712017536, 2017543, 2017546, 2017549, 2017559, 2017571, 2017577-2017578, 2017751-2017772, 2017789, 2017792-2017793, 2017829, 2017978-2017996, 2018061-2018096, 2018159-2018160, 2018167-2018169, 2018282, 2018354-2018366
92IGF2110.115330520393816297112154217-2154390, 2154400-2154436, 2154441, 2154747-2154843, 2154855-2154895, 2156601-2156705, 2156722, 2156725-2156759, 2161365-2161439, 2161457-2161497, 2161503-2161524
93TH110.088253968253968143615752185463-2185598, 2185610-2185622, 2186462-2186595, 2186898-2186972, 2186982-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188200, 2188206-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189389, 2189721-2189819, 2189831-2189865, 2189868, 2189880-2189895, 2190896-2191101, 2191920-2192000, 2192934, 2192941-2192947, 2192976-2193003
94KCNQ1110.7227966518956256320312466329-2466714, 2591879, 2591902, 2591915-2591919, 2591969, 2592555-2592566, 2592573, 2593243-2593261, 2593270-2593339, 2594111-2594157, 2594211, 2604688-2604689, 2604716-2604722, 2606527-2606533, 2608819-2608820, 2608825
95CDKN1C110.113564668769728439512905234-2905296, 2905320-2905344, 2905350-2905364, 2905900-2906524, 2906552-2906596, 2906614-2906643, 2906649-2906655, 2906687-2906719
96HBD110.9842342342342374445255652-5255658
97SMPD1110.99683544303797618966411936-6411941
98SBF2110.99837837837838955509812122-9812125, 10014050-10014054
99ABCC8110.9938895912347229474617419279-17419282, 17498297-17498303, 17498306-17498323
100WT1110.9382239382239496155432456449, 32456587-32456606, 32456615-32456662, 32456694, 32456721-32456735, 32456816-32456822, 32456880-32456883
101PDHX110.986719787516620150634938215-34938234
102SLC35C1110.996212121212124105645827448-45827451
103PEX16110.9202689721421783104145931640-45931655, 45931663-45931669, 45935463, 45935880-45935881, 45935962, 45935973-45935974, 45935984, 45937362-45937379, 45937382, 45939270-45939303
104F2110.9475655430711698186946741272, 46745014, 46745022, 46745027-46745030, 46747456-46747457, 46747480, 46747493, 46747496, 46747499-46747504, 46747509-46747516, 46747554-46747561, 46747585, 46747590-46747592, 46747617-46747631, 46747717, 46748367-46748380, 46749557, 46749560-46749564, 46749681-46749683, 46750230, 46750330-46750331, 46750353-46750354, 46750364-46750376, 46751102-46751104
105DDB2110.993769470404988128447238016-47238023
106MYBPC3110.96732026143791125382547367889, 47367897, 47368983, 47369448, 47369997-47369998, 47370001-47370010, 47371581-47371582, 47371588-47371592, 47371595, 47371598-47371599, 47371604, 47371607, 47371614-47371616, 47372115-47372159, 47372163-47372166, 47372951-47372957, 47373019-47373056
107RAPSN110.9919289749798210123947460298, 47460415-47460417, 47460424, 47460427, 47460459, 47463215-47463216, 47463468
108TMEM216110.98863636363636326461165320, 61165327, 61165331
109ROM1110.999053030303031105662380831
110SLC22A12110.47412755716005874166264359029-64359038, 64359084-64359122, 64359138-64359183, 64359189-64359213, 64359234-64359253, 64359283-64359295, 64359305, 64359315, 64359320, 64359323, 64359349-64359367, 64359381-64359410, 64359423-64359430, 64360261-64360268, 64360274, 64360280-64360354, 64360877-64360921, 64360935, 64360940-64360950, 64360973-64360975, 64360981-64361016, 64361025-64361031, 64361107-64361239, 64361251-64361275, 64365988-64366002, 64366284-64366305, 64366343-64366356, 64367148-64367172, 64367183-64367342, 64367362, 64367855-64367889, 64368207-64368219, 64368232-64368238, 64368281-64368284, 64368291, 64368332-64368349
111PYGM110.9778568604191456252964520636, 64520640-64520649, 64521035-64521037, 64521391, 64521403, 64521413-64521418, 64521743-64521759, 64526141, 64527148-64527159, 64527229, 64527285, 64527348, 64527351
112MEN1110.996753246753256184864577558-64577562, 64577569
113RNASEH2C110.99191919191919449565488226-65488229
114EFEMP2110.9872372372372417133265634464-65634466, 65636050-65636053, 65638645, 65638824-65638829, 65639777-65639779
115CST6110.948888888888892345065780301, 65780333, 65780373-65780393
116BBS1110.996071829405167178266287166-66287172
117SPTBN2110.97337236860449191717366460711-66460715, 66468122-66468138, 66468292-66468307, 66468392-66468405, 66468691, 66468740-66468744, 66472178, 66472269, 66472939, 66475049-66475093, 66475127-66475143, 66475251-66475259, 66475612, 66475669-66475676, 66475684-66475703, 66475715, 66475722, 66475748-66475755, 66478086, 66481792, 66481799-66481803, 66483325-66483337
118PC110.96805202148714113353766617691-66617693, 66617707, 66618242, 66620105, 66631322, 66631350-66631351, 66633665-66633667, 66633670-66633673, 66633683, 66633686, 66633695, 66633699, 66633730-66633749, 66633780-66633805, 66636418, 66638349, 66638526-66638532, 66638543, 66638615-66638625, 66638861, 66638893, 66638901, 66639168, 66639197-66639214, 66639555-66639557, 66639573
119CABP4110.946859903381644482867222949-67222971, 67223123-67223126, 67223192-67223196, 67223228-67223229, 67223812-67223818, 67225859, 67225929-67225930
120AIP110.415911379657658099367254545, 67256738-67256749, 67256755-67256788, 67256811, 67256814-67256839, 67256871, 67256875-67256883, 67256893-67256926, 67257509-67257614, 67257624-67257668, 67257671-67257676, 67257680, 67257787-67257908, 67257926-67257928, 67258259-67258279, 67258288-67258296, 67258303-67258388, 67258391, 67258403-67258464
121NDUFS8110.7298578199052117163367799640-67799642, 67799777, 67799787-67799789, 67799794, 67800408-67800422, 67800434-67800479, 67800578-67800586, 67800637-67800643, 67800671-67800711, 67800728-67800738, 67803723-67803740, 67803954-67803967, 67804059-67804060
122TCIRG1110.64340152426795889249367808739-67808745, 67808795-67808798, 67808809, 67808821-67808823, 67808825-67808826, 67808854-67808855, 67809220-67809228, 67809268-67809298, 67810110-67810136, 67810194-67810219, 67810248-67810316, 67810441-67810461, 67810489, 67810495-67810498, 67810838-67810845, 67810894-67810946, 67811038-67811054, 67811064-67811105, 67811289-67811347, 67811608-67811621, 67811643-67811704, 67811726-67811760, 67811769-67811811, 67812476, 67812520, 67812529-67812535, 67814922, 67815036, 67815181-67815183, 67815196, 67815204-67815206, 67815237-67815239, 67815349-67815368, 67816362-67816372, 67816377, 67816387-67816419, 67816422, 67816548-67816549, 67816558-67816598, 67816664-67816666, 67816701-67816757, 67817130-67817148, 67817184-67817196, 67817533, 67817613-67817645, 67817658-67817660, 67817671-67817675, 67817682-67817683, 67817954-67817990, 67818026-67818050, 67818076-67818093, 67818235-67818236, 67818286
123LRP5110.89108910891089528484868080183-68080273, 68115617, 68115622, 68115659-68115702, 68131215-68131227, 68131268-68131315, 68131326-68131334, 68131345-68131348, 68131360-68131392, 68131396-68131399, 68170951-68170970, 68177382-68177390, 68192652, 68193619-68193621, 68204396-68204398, 68204410-68204414, 68204423, 68204453-68204467, 68205947-68205953, 68205998-68206001, 68206057-68206058, 68207250-68207276, 68207336-68207379, 68213938-68213986, 68216308, 68216342-68216366, 68216425, 68216428-68216430, 68216435-68216441, 68216452-68216479, 68216496-68216519, 68216534
124IGHMBP2110.9929577464788721298268671421-68671423, 68671436-68671437, 68696671-68696680, 68704500-68704505
125DHCR7110.998599439775912142871146448, 71146691
126MYO7A110.669825511432012195664876867933-76867934, 76868020-76868024, 76868341, 76873914-76873918, 76877176, 76883794-76883800, 76883831-76883877, 76883891-76883894, 76883897-76883931, 76885802-76885960, 76886418-76886421, 76886427-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895651-76895665, 76895668, 76895679-76895760, 76900389-76900428, 76900438, 76900453-76900465, 76900479-76900515, 76901065-76901184, 76901742-76901751, 76901774-76901820, 76901834-76901902, 76903096, 76903109-76903112, 76903118-76903171, 76903181, 76903190-76903222, 76903246-76903294, 76903307-76903323, 76905413, 76905428, 76908530, 76909567-76909603, 76909649-76909666, 76910734
127ALG8110.994939911448458158177825339-77825346
128FZD4110.9826517967781928161486666079-86666102, 86666121-86666124
129TYR110.998742138364782159089018110-89018111
130MTMR2110.999482401656311193295657111
131TRPC6110.9996423462088712796101359759
132DYNC2H1110.998068752414062512945102991530, 103029406-103029412, 103029484, 103029496, 103043811-103043816, 103062287-103062289, 103130668-103130669, 103157043-103157046
133ACAT1110.919781931464171031284107992343-107992350, 108002635-108002651, 108004554-108004610, 108004948-108004949, 108004971-108004976, 108005876-108005882, 108009660, 108009665-108009669
134ATM110.99792825209901199171108098418-108098423, 108098609-108098615, 108127038-108127043
135RDX110.9960045662100571752110135507-110135513
136DRD2110.9962462462462551332113281454-113281458
137APOA1110.992537313432846804116706724-116706729
138FXYD2110.981735159817358438117693277, 117693281-117693287
139TECTA110.9998453209590116465120989172
140ROBO3110.9990386926219744161124738751-124738754
141WNK1120.99454469156525397149862735-862754, 862805-862815, 862851, 862869, 862989, 863106, 863145, 863152, 863356-863357
142CACNA1C120.98613016308499165612676804, 2676873, 2676880-2676896, 2788726, 2788752, 2788760-2788772, 2788899, 2794934-2794940, 2797705-2797712, 2797820, 2797829-2797857, 2797895, 2800298-2800301, 2800352-2800357
143VWF120.988272921108749984426125328-6125344, 6127532-6127538, 6128064-6128087, 6128440-6128454, 6131926-6131932, 6131955-6131982, 6132030
144SCNN1A120.99954275262917121876463629
145TPI1120.97733333333333177506976731-6976736, 6976793, 6976812, 6976825-6976828, 6976832, 6976842-6976845
146ATN1120.98404701931155735737045892-7045894, 7046574-7046590, 7050159-7050161, 7050563, 7050568, 7050592-7050603, 7050642-7050661
147CDKN1B120.99497487437186359712870927-12870929
148GYS2120.999526515151521211221712060
149ABCC9120.998494623655917465022063801-22063807
150KRAS120.961403508771932257025380188-25380196, 25380200-25380205, 25380253-25380259
151DNM1L120.998190863862514221132866199, 32866246-32866247, 32875535
152PKP2120.95664280031822109251433049452-33049507, 33049530, 33049535-33049536, 33049547-33049564, 33049598, 33049632-33049633, 33049636-33049664
153LRRK2120.9886603375527486758440761482-40761567
154IRAK4120.993492407809119138344166737-44166742, 44180339-44180341
155COL2A1120.9919354838709736446448372424, 48373300-48373312, 48376363-48376376, 48391977, 48398065, 48398099-48398104
156MLL2120.8973757072348617051661449420775-49420776, 49422864, 49424114, 49424177, 49424385-49424390, 49424469, 49424472-49424478, 49424678, 49425074-49425079, 49425106-49425110, 49425306-49425348, 49425583, 49425597-49425601, 49425604-49425605, 49425622, 49425678, 49425741-49425743, 49425770-49425811, 49425820-49425843, 49425882, 49425966, 49425999-49426030, 49426090, 49426104, 49426156-49426163, 49426173-49426190, 49426207-49426254, 49426351-49426391, 49426519, 49426522, 49426525-49426529, 49426566-49426578, 49426604-49426664, 49426670-49426672, 49426680, 49426683-49426694, 49426696-49426710, 49426718-49426719, 49426728-49426729, 49426763-49426802, 49426808-49426827, 49426841-49426875, 49426902-49426965, 49427020-49427102, 49427207-49427245, 49427265, 49427287-49427290, 49427303, 49427310, 49427314-49427320, 49427322-49427341, 49427402-49427451, 49427509-49427515, 49427540-49427548, 49427556-49427586, 49427621-49427625, 49427658-49427661, 49427680-49427686, 49427734-49427740, 49427856-49427899, 49428030-49428036, 49430908-49430909, 49430933-49430948, 49430953, 49430968, 49430991-49431021, 49431082-49431103, 49431107, 49431116, 49431192-49431195, 49431206-49431207, 49431222-49431225, 49431230, 49431240, 49431256, 49431262-49431305, 49431319-49431321, 49431343-49431366, 49431370-49431373, 49431440, 49431470, 49431482-49431491, 49431512-49431572, 49431592-49431609, 49431625-49431665, 49431678-49431682, 49431689-49431704, 49431717, 49431745-49431786, 49431822-49431854, 49431875-49431899, 49431905-49431936, 49431960-49431988, 49432001, 49432112, 49432131, 49432146-49432168, 49432213-49432240, 49432282, 49432301-49432312, 49432348-49432349, 49432365, 49432398-49432400, 49432439, 49432470, 49432507-49432541, 49432614, 49432628-49432629, 49432705, 49432710, 49432741-49432748, 49433022, 49433075-49433092, 49433137-49433140, 49433246, 49433289-49433295, 49433306-49433342, 49433376-49433377, 49433546-49433553, 49433579, 49433600, 49433623-49433626, 49433632, 49433653-49433656, 49433743-49433781, 49434032, 49434053-49434116, 49434349, 49434588, 49438672, 49440518, 49441774
157DHH120.999160369437451119149484047
158TUBA1A120.949561403508772345649522303-49522320, 49522445, 49522457, 49522468, 49522575, 49522578
159AQP2120.96568627450982881650344614-50344625, 50344628-50344632, 50347943-50347944, 50349302-50349305, 50349346-50349350
160KRT81120.9756258234519137151852681834, 52681840, 52681845-52681846, 52684021-52684049, 52685176-52685177, 52685192, 52685209
161KRT86120.971937029431941146152695760-52695766, 52696900-52696933
162KRT6B120.9911504424778815169552843632-52843637, 52845432-52845438, 52845574, 52845801
163KRT6C120.9870206489675522169552865295-52865300, 52867094, 52867105, 52867230-52867236, 52867457-52867463
164KRT6A120.99528023598828169552884735, 52886908-52886914
165AAAS120.998781230956732164153701280, 53708607
166MYO1A120.999680715197961313257431763
167CEP290120.9922043010752758744088472953-88472957, 88523471-88523502, 88532945, 88534781, 88535005, 88535052-88535069
168MMAB120.973439575033220753109998878-109998884, 109998894-109998899, 109998908-109998909, 110011220-110011221, 110011253-110011255
169MVK120.9991603694374511191110019295
170TRPV4120.9789755351682552616110230565, 110236430-110236432, 110236544-110236549, 110240863-110240875, 110240948, 110246117, 110246152-110246171, 110246195-110246204
171ATP2A2120.9996804090763813129110780175
172ATXN2120.839167935058356343942112036590-112036623, 112036648, 112036658-112036676, 112036688-112037151, 112037187-112037238, 112037252-112037310, 112037314-112037318
173PTPN11120.99663299663361782112891047-112891052
174SDS120.9513677811550248987113835163-113835174, 113836513-113836547, 113836618
175TBX3120.99372759856631142232115109867-115109870, 115109923-115109927, 115112323-115112324, 115112328-115112330
176HNF1A120.97521097046414471896121416618-121416629, 121434355-121434357, 121435325-121435328, 121437287-121437313, 121438892
177PUS1120.96105919003115501284132414278-132414311, 132414452-132414457, 132414553-132414560, 132416802-132416803
178SACS130.9997816593886531374023908436-23908438
179PDX1130.98943661971831985228494580-28494584, 28494596-28494599
180B3GALTL130.9772879091516434149731774222-31774223, 31774226, 31774235-31774265
181BRCA2130.9999025056059311025732911594
182RB1130.999641191245071278749039181
183ZIC2130.465290806754228551599100634337-100634376, 100634387-100634457, 100634472-100634481, 100634518-100634643, 100634670-100634706, 100634731-100634755, 100634766-100634778, 100634805-100634821, 100634883-100634898, 100634996, 100635047-100635099, 100635141, 100635173-100635196, 100635211-100635239, 100635374-100635389, 100637297-100637354, 100637578-100637602, 100637624-100637688, 100637704-100637795, 100637801-100637936
184COL4A1130.98962075848303525010110959307-110959317, 110959320-110959359, 110959372
185F7130.2029962546816510641335113760156-113760219, 113765004-113765133, 113765141-113765164, 113768161-113768181, 113768200-113768208, 113768237-113768242, 113768245, 113768256, 113769974-113770114, 113771080-113771119, 113771144, 113771161-113771189, 113771787-113771794, 113771811-113771837, 113771841-113771884, 113771892-113771910, 113772727-113772759, 113772770-113772922, 113772936-113772992, 113773008-113773107, 113773122-113773158, 113773164, 113773168-113773203, 113773210, 113773228-113773247, 113773262-113773322
186F10130.8268575323792541467113777177-113777232, 113798225, 113798258-113798278, 113798305, 113798367-113798401, 113803230-113803247, 113803341, 113803344-113803348, 113803368-113803377, 113803386-113803389, 113803407, 113803413-113803424, 113803432-113803435, 113803448, 113803458-113803460, 113803481, 113803493, 113803539, 113803574-113803576, 113803627-113803669, 113803691, 113803750-113803754, 113803806-113803831
187GRK1130.637706855791966131692114321707-114321803, 114321843-114321882, 114321900-114321947, 114321950, 114321973-114322001, 114322010-114322057, 114322076-114322099, 114322112-114322162, 114322175-114322248, 114322304-114322306, 114322309, 114322317, 114322329-114322400, 114324109-114324113, 114325827-114325830, 114325833-114325836, 114325860-114325906, 114325929-114325971, 114426120-114426130, 114435880, 114438206-114438214
188TEP1140.9980974124809715788420851770-20851776, 20876282, 20876369-20876375
189RPGRIP1140.99637399637414386121769152-21769155, 21769158, 21795945-21795953
190PABPN1140.8707926167209611992123790679-23790714, 23790739-23790761, 23790804-23790815, 23790855-23790857, 23790860-23790874, 23790889-23790890, 23790950-23790962, 23791015-23791029
191MYH6140.99673539518919582023861848-23861850, 23869539-23869554
192MYH7140.999655647382922580823894012-23894013
193NRL140.971988795518212071424550579, 24550592-24550607, 24551814-24551816
194TGM1140.9722901385493168245424723445-24723448, 24723474-24723477, 24723961-24723967, 24724287-24724289, 24724292-24724299, 24724396-24724414, 24724421, 24724426, 24724722, 24727579-24727580, 24727592, 24728987-24728992, 24729192-24729196, 24731464-24731469
195FOXG1140.76394557823129347147029236514-29236515, 29236620-29236964
196CFL2140.9940119760479350135183744-35183746
197MGAT2140.999255952380951134450088050
198C14orf104140.92641209228321185251450092401, 50092506-50092511, 50100410-50100414, 50100601-50100612, 50100664-50100674, 50100683, 50100789-50100796, 50100808, 50100946-50100947, 50100987-50100993, 50101093-50101103, 50101117-50101119, 50101151-50101173, 50101252-50101296, 50101342-50101365, 50101370, 50101453-50101471, 50101565-50101569
199L2HGDH140.995689655172416139250713778-50713783
200PYGL140.9952830188679212254451381423-51381434
201GCH1140.965471447543162675355369108-55369110, 55369126, 55369246, 55369262-55369267, 55369359-55369373
202SIX6140.99865047233468174160977887
203SYNE2140.9999034935340722072464483277-64483278
204ZFYVE26140.99973753280842762068241756-68241757
205VSX2140.95119705340753108674706265-74706270, 74706371, 74706374-74706380, 74706394, 74706429-74706466
206EIF2B2140.991477272727279105675471588-75471593, 75471596-75471597, 75471601
207MLH3140.999770747363591436275515672
208ESRRB140.996725605762935152776964678, 76964684-76964686, 76964690
209POMT2140.9906790945406121225377786863, 77786896-77786905, 77786919, 77786931-77786932, 77786967-77786973
210TTC8140.9832041343669326154889305838-89305863
211ATXN3140.995395948434625108692537354-92537357, 92562447
212AMN140.06975036710719512671362103389026-103389068, 103390062-103390067, 103390101-103390114, 103390134-103390166, 103390272-103390303, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396050, 103396067-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
213INF2140.297626343750105167703-105167755, 105167779-105167781, 105167793, 105167801-105167810, 105167835-105167878, 105167891-105167892, 105167903-105167928, 105167937, 105167950-105168020, 105168037-105168093, 105169445-105169452, 105169458-105169479, 105169486-105169515, 105169522-105169557, 105169634-105169680, 105169700-105169726, 105169744-105169791, 105170257-105170286, 105172372-105172404, 105172416-105172449, 105172462-105172463, 105172474-105172475, 105172499, 105173247-105173248, 105173264-105173310, 105173358-105173388, 105173590-105173594, 105173629-105173635, 105173674-105173695, 105173721-105173825, 105173831-105173834, 105173844-105174339, 105174773-105174924, 105175021, 105175050-105175057, 105175640-105175659, 105175685-105175688, 105175708-105175720, 105175974-105175999, 105176006-105176042, 105176433-105176459, 105176476, 105176479, 105176483, 105176486-105176487, 105176490-105176525, 105177274-105177285, 105177292-105177313, 105177321-105177344, 105177416-105177523, 105177966-105177970, 105177982-105178015, 105178024-105178036, 105178773-105178837, 105178847-105178890, 105179165-105179166, 105179180-105179186, 105179193-105179222, 105179237-105179240, 105179246-105179320, 105179560-105179635, 105179644-105179646, 105179782-105179794, 105179806-105179847, 105179903, 105179910-105179935, 105180540-105180542, 105180565, 105180577-105180621, 105180639-105180676, 105180696, 105180703-105180707, 105180737-105180775, 105180793-105180831, 105180893, 105180903-105180907, 105180920-105180994, 105181009-105181049, 105181060-105181061, 105181084-105181112, 105181121-105181152, 105181175-105181193, 105181638-105181654
214NIPA1150.7818181818181821699023048998-23049004, 23049049-23049057, 23049266-23049275, 23049301-23049309, 23062317-23062319, 23086234-23086411
215UBE3A150.999619482496191262825616623
216OCA2150.999602701628921251728273160
217IVD150.9523809523809561128140698029-40698050, 40698078-40698111, 40698125-40698128, 40698154
218CHST14150.8788682581786137113140763420, 40763429-40763499, 40763505-40763509, 40763512-40763514, 40763517-40763532, 40763536-40763542, 40763551-40763559, 40763566-40763590
219CDAN1150.995656894679716368443021787-43021791, 43028720-43028722, 43029281-43029288
220TTBK2150.999732262382861373543103962
221STRC150.9917417417417444532843910863-43910906
222SPG11150.9984997272231311733244912438-44912444, 44914512-44914515
223DUOX2150.9870884441575260464745393464, 45399082-45399089, 45403381-45403384, 45403582-45403587, 45403621-45403622, 45403630, 45403636, 45403733-45403757, 45403987-45403991, 45405221-45405227
224GATM150.994496855345917127245670612-45670618
225SPG21150.99892125134844192765275846
226CLN6150.99679487179487393668500480-68500482
227NR2E3150.99818840579712110472103884-72103885
228HEXA150.997484276729564159072668279-72668282
229HCN4150.83803986710963585361273614874, 73614888-73614915, 73615029-73615052, 73615070-73615080, 73615128-73615159, 73615401-73615414, 73615434, 73615440, 73615447-73615451, 73615462, 73615464, 73615961, 73616144, 73616166-73616176, 73659859, 73659899-73659921, 73660031-73660035, 73660049-73660050, 73660067-73660168, 73660179-73660180, 73660192-73660217, 73660224, 73660227-73660233, 73660244-73660255, 73660284-73660285, 73660296, 73660303-73660511, 73660552-73660611
230MPI150.996855345911954127275185570-75185571, 75190070-75190071
231PSTPIP1150.0479616306954441191125177310489-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317940, 77320195-77320231, 77320249-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
232POLG150.9973118279569910372089876828-89876836, 89876840
233MESP2150.73450586264657317119490319595, 90319598-90319629, 90319649, 90319687-90319703, 90319755-90319807, 90319815-90319878, 90319903-90319941, 90319958, 90319994, 90320007-90320032, 90320068-90320071, 90320082, 90320093-90320115, 90320146, 90320149, 90320161, 90320222, 90320226, 90320240, 90320243, 90320258-90320261, 90320368-90320408, 90321511, 90321516
234BLM150.96097790314998166425491303435-91303445, 91304394, 91328268-91328287, 91337400-91337411, 91337418, 91337437-91337500, 91337532-91337587, 91347498
235IGF1R150.9956140350877218410499192893-99192904, 99500582-99500586, 99500671
236HBZ160.47319347319347226429202909, 202916, 202957-202958, 202985, 203931-203983, 203996-203998, 204001-204018, 204025, 204036-204065, 204092-204095, 204271-204382
237HBM160.99061032863854426216335-216338
238HBA2160.71561771561772122429222918-222946, 222965-223006, 223176, 223276-223325
239GNPTG160.872549019607841179181401967-1402018, 1402103-1402122, 1402158, 1402240-1402258, 1402290-1402307, 1412277-1412280, 1412316, 1412319, 1412489
240CLCN7160.50330851943755120124181496635, 1496645-1496653, 1496657-1496658, 1496678-1496703, 1497007-1497040, 1497057-1497058, 1497062-1497063, 1497083-1497087, 1497393-1497494, 1497517-1497569, 1497656-1497705, 1497711-1497715, 1498356-1498392, 1498408-1498437, 1498451-1498485, 1498683-1498727, 1498757, 1498766-1498767, 1498994-1499094, 1499277-1499328, 1500498-1500508, 1500516-1500543, 1500560, 1500598-1500667, 1501624-1501646, 1501673-1501676, 1501693-1501717, 1502774-1502861, 1502876, 1502886-1502894, 1503835-1503843, 1503867-1503868, 1503894-1503895, 1504412-1504422, 1504429-1504450, 1504464-1504466, 1505141-1505152, 1505173-1505198, 1505219-1505226, 1505240, 1505761, 1505773-1505796, 1506140-1506207, 1507336, 1507709-1507711, 1509108-1509137, 1509148, 1510448-1510454, 1510902, 1524852, 1524862-1524975
241IGFALS160.486024844720599319321840601-1840616, 1840628-1840644, 1840653-1840704, 1840766-1840828, 1840837-1840859, 1840883, 1840887-1840895, 1840901-1840903, 1840911, 1840916-1840917, 1840922, 1840928-1840972, 1840986-1841009, 1841021-1841070, 1841096-1841155, 1841176-1841180, 1841187-1841193, 1841253-1841320, 1841332-1841379, 1841406-1841432, 1841452-1841469, 1841518-1841582, 1841606-1841633, 1841673, 1841683, 1841699, 1841717-1841746, 1841755, 1841769-1841781, 1841790, 1841800, 1841804, 1841812, 1841825-1841841, 1841847, 1841878-1841880, 1841901-1841941, 1841950-1842030, 1842050-1842073, 1842099-1842113, 1842135-1842151, 1842175-1842176, 1842183, 1842188, 1842198, 1842209, 1842212-1842214, 1842221, 1842231-1842234, 1842285-1842338, 1842374-1842392, 1842403-1842405, 1842408, 1842445, 1842448, 1842460-1842474, 1843652-1843653
242GFER160.328478964401294156182034220-2034477, 2034748-2034750, 2034768-2034821, 2034845, 2034851-2034905, 2035867-2035875, 2035885-2035889, 2035897-2035900, 2035913-2035923, 2035990-2035996, 2035999-2036006
243TSC2160.19634955752212435954242098655-2098682, 2098697-2098745, 2100416-2100460, 2100470, 2100473, 2100476, 2103343-2103446, 2104340-2104356, 2104415-2104431, 2106197-2106213, 2106646, 2106753, 2108748-2108873, 2110671-2110672, 2110682, 2110715-2110729, 2110733-2110736, 2110750-2110809, 2111897-2111901, 2111904-2111907, 2111950, 2111955-2111976, 2112513-2112601, 2112973-2112995, 2113007-2113054, 2114273-2114299, 2114311-2114428, 2115530-2115534, 2115544, 2115573-2115636, 2120457-2120460, 2120466-2120467, 2120473, 2120476-2120481, 2120497, 2120508, 2120512-2120514, 2120526-2120527, 2120536-2120570, 2121511-2121617, 2121785-2121868, 2121877-2121935, 2122249-2122251, 2122264-2122283, 2122288-2122290, 2122297, 2122336-2122364, 2122850-2122856, 2122872-2122903, 2122929-2122967, 2124201-2124390, 2125800-2125849, 2125862-2125893, 2126070-2126110, 2126144-2126171, 2126492-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
244PKD1160.0005421313506814912905129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185496, 2185504-2185690
245ABCA3160.903030303030349651152327599-2327626, 2327666-2327668, 2327944, 2328060-2328070, 2328299-2328308, 2328376-2328404, 2328439, 2328979-2329024, 2329097, 2331148, 2331392, 2331420, 2331430, 2331444, 2331458, 2331500, 2331506-2331510, 2333197-2333204, 2333215-2333219, 2333246-2333255, 2333269, 2333298-2333337, 2334280, 2334337-2334365, 2334975-2334983, 2334998-2334999, 2335449-2335453, 2335457-2335459, 2335519, 2335522, 2335576-2335577, 2335639, 2335643, 2336792, 2338040, 2338075-2338085, 2338098, 2338276-2338294, 2338319-2338321, 2338327, 2339541, 2339550, 2342141-2342142, 2342212, 2342217-2342223, 2347338, 2347380-2347404, 2347425-2347460, 2347488-2347494, 2347521-2347540, 2347790-2347816, 2347868-2347869, 2348401, 2348414, 2348493-2348501, 2348524-2348541, 2349448-2349455, 2349458-2349459, 2350007-2350008, 2350011, 2350056-2350064, 2354150, 2358612, 2369600, 2369667-2369669, 2369793-2369803
246MEFV160.9398976982097214123463293407, 3293619-3293631, 3293688, 3296543-3296546, 3297060-3297061, 3297175, 3299508, 3304449-3304452, 3304492, 3304507-3304520, 3304603-3304609, 3304624-3304650, 3304661-3304664, 3306327-3306341, 3306344, 3306368-3306389, 3306400-3306410, 3306415-3306417, 3306421, 3306426, 3306571, 3306582-3306587
247SLX4160.988737511353326255053632467-3632472, 3632501-3632504, 3632508, 3632528, 3632532-3632534, 3633448-3633452, 3639241-3639243, 3639523-3639534, 3639624, 3639827, 3647467-3647474, 3647549-3647550, 3647564-3647565, 3647694, 3647870-3647872, 3647878-3647879, 3647882-3647886, 3647918, 3651145
248CREBBP160.9592031655068929973293777757-3777797, 3777840, 3777861-3777865, 3778035-3778049, 3778153-3778154, 3778282, 3778286, 3778296-3778300, 3778303-3778305, 3778314, 3778391-3778458, 3778526, 3778628-3778629, 3778641-3778651, 3778780-3778790, 3778800-3778809, 3778833, 3778843-3778849, 3778912-3778915, 3778924-3778953, 3778956-3778964, 3779001, 3779007-3779009, 3779018-3779020, 3779069-3779071, 3779163-3779208, 3779409-3779414, 3779425, 3779430, 3779434-3779436, 3779442-3779444
249GLIS2160.11873015873016138815754382282-4382326, 4382360-4382409, 4382418-4382453, 4383352-4383365, 4383392-4383404, 4383416-4383417, 4383441, 4383444-4383447, 4383452-4383455, 4383458-4383466, 4383471-4383506, 4384802-4384968, 4384974-4384978, 4385061-4385074, 4385089-4385194, 4385280, 4385290-4385296, 4385321-4385394, 4386726-4387525
250ALG1160.9125448028673812213955128826-5128872, 5130968-5130999, 5131046-5131057, 5134751-5134777, 5134879-5134882
251ABAT160.99933466400532115038873418
252ABCC6160.7854609929078968451216244039, 16244553, 16248605, 16248826, 16251645, 16253339-16253343, 16253346, 16253424, 16255302-16255341, 16255347-16255394, 16256931, 16256937, 16256974, 16257006-16257014, 16257023-16257024, 16259480-16259494, 16259510-16259565, 16259571-16259645, 16259651, 16259671-16259679, 16259697-16259729, 16259737-16259790, 16263503-16263710, 16267141-16267219, 16267240-16267261, 16269768-16269806, 16269817-16269843, 16271320-16271350, 16271378-16271399, 16271423-16271466, 16272655-16272662, 16272748-16272772, 16272794-16272822, 16276292, 16276296-16276299, 16276700-16276725, 16276730, 16276746-16276755, 16276764-16276769, 16276776, 16276779, 16276786, 16278836-16278848, 16278852, 16278863, 16278869, 16282826, 16306056-16306062, 16315647-16315648
253UMOD160.998959958398342192320360307-20360308
254OTOA160.9944444444444419342021696624, 21747694-21747711
255COG7160.998270644185044231323403702-23403705
256PALB2160.9941027801179421356123614789-23614805, 23632703-23632706
257CLN3160.9908883826879312131728497701-28497703, 28497711-28497717, 28499002-28499003
258TUFM160.9488304093567370136828857370-28857393, 28857399, 28857402-28857426, 28857558-28857577
259ATP2A1160.9953426480372614300628898860, 28898865-28898876, 28898891
260CD19160.995810891681637167128948953, 28950064, 28950211-28950215
261PHKG2160.9852579852579918122130760142-30760146, 30760172-30760176, 30760188-30760189, 30760218-30760219, 30760236, 30768333-30768335
262VKORC1160.975609756097561249231102622-31102633
263FUS160.9563567362428869158131191536-31191541, 31193889-31193895, 31195268-31195284, 31195295, 31195310, 31195314, 31195537-31195544, 31195640-31195641, 31195662, 31195676-31195698, 31196414, 31196426
264SLC5A2160.9935611688954913201931500041-31500053
265NOD2160.9903938520653230312350733810-50733812, 50745351-50745358, 50745520-50745523, 50745885-50745898, 50746172
266CYLD160.9954577218728213286250821718, 50826585-50826596
267SALL1160.999245283018873397551175656-51175658
268RPGRIP1L160.999746707193521394853672248
269SLC12A3160.95602974458455136309356899224-56899228, 56899346-56899347, 56899354-56899356, 56904551-56904557, 56904616, 56906317-56906320, 56911999, 56912036-56912037, 56913098-56913100, 56920276-56920280, 56920899-56920900, 56920969-56921005, 56921837-56921855, 56921867, 56921873-56921891, 56921898, 56921920-56921943
270GPR56160.9544573643410994206457684245, 57688014, 57689311-57689316, 57689366, 57689435, 57689441-57689442, 57690170, 57690524, 57694760-57694766, 57695674-57695692, 57695719-57695763, 57697370-57697378
271CNGB1160.999733759318421375657993869
272TK2160.982683982683981692466583958-66583965, 66584011-66584018
273HSD11B2160.82101806239737218121867465152-67465348, 67465388-67465389, 67465396-67465399, 67465402-67465416
274LCAT160.87679516250945163132367973850, 67973917, 67973924-67973925, 67973967-67973970, 67973979-67973984, 67973988-67974005, 67974036-67974039, 67974097, 67974143-67974149, 67976371, 67976397-67976405, 67976481-67976484, 67976578, 67976582-67976587, 67976616-67976621, 67976769-67976772, 67976850, 67976959-67977020, 67977048, 67977093, 67977107, 67977111, 67977952, 67977960-67977963, 67977971-67977976, 67977984-67977992, 67977995
275CDH3160.9887550200803228249068719223-68719224, 68725719-68725726, 68725812-68725829
276CDH1160.997357493393737264968771348-68771350, 68771353, 68771363-68771365
277COG8160.94507884719957101183969364753-69364755, 69364768, 69364803-69364810, 69364824-69364871, 69364915-69364917, 69366732-69366736, 69373090-69373093, 69373180-69373185, 69373226-69373244, 69373271-69373274
278AARS160.999312005503962290770296273, 70301616
279GCSH160.871647509578546752281116486-81116507, 81129770-81129784, 81129802-81129824, 81129869-81129875
280GAN160.9531772575250884179481348719-81348766, 81348846-81348881
281MLYCD160.79757085020243300148283932803-83932805, 83932813-83932886, 83932908-83932956, 83932989-83933063, 83933081-83933087, 83933094-83933129, 83933181-83933200, 83933216-83933245, 83948757-83948762
282FOXF1160.9385964912280770114086544181-86544188, 86544207-86544238, 86544259-86544266, 86544315, 86544595-86544601, 86544755, 86544924, 86544936, 86544942-86544944, 86544960-86544966, 86544974
283FOXC2160.6394422310757543150686600994-86601041, 86601058-86601066, 86601085, 86601098, 86601123-86601148, 86601206-86601234, 86601270-86601273, 86601313-86601333, 86601408-86601449, 86601498-86601515, 86601607-86601610, 86601681-86601711, 86601722, 86601735, 86601777-86601820, 86601843-86601869, 86601879-86601898, 86601919-86601951, 86601958-86601986, 86601990-86601994, 86602006, 86602009-86602017, 86602043, 86602046-86602049, 86602053-86602082, 86602153-86602198, 86602242, 86602250, 86602257-86602261, 86602264, 86602270-86602278, 86602304-86602344
284JPH3160.58166444147753940224787636876-87636877, 87636882, 87636908-87636909, 87636944-87636984, 87677869-87677872, 87677981-87678027, 87678084-87678085, 87678130-87678133, 87678144-87678146, 87678177, 87678366-87678391, 87678404-87678444, 87678457-87678491, 87678571-87678574, 87717771-87717804, 87717810-87717824, 87717834-87717872, 87723252-87723284, 87723299-87723520, 87723527-87723643, 87723650-87723658, 87723661-87723699, 87723729-87723758, 87723767-87723776, 87723780, 87723786, 87723791-87723810, 87723824, 87723827-87723838, 87723902-87723919, 87723935-87724028, 87724064, 87724068-87724091, 87724126-87724132
285CYBA160.5017006802721129358888709761-88709784, 88709803, 88709816-88709890, 88709902-88709927, 88709937-88709979, 88712532-88712542, 88712573-88712589, 88713173-88713175, 88713232-88713246, 88713512-88713568, 88717364-88717365, 88717371, 88717377, 88717386, 88717392-88717394, 88717405-88717407, 88717410-88717412, 88717415-88717421
286APRT160.2283609576427341954388876106-88876113, 88876144-88876145, 88876151-88876168, 88876172-88876179, 88876194, 88876204-88876215, 88876224-88876248, 88876478-88876512, 88876528-88876556, 88876841-88876849, 88876856, 88876862-88876866, 88876876-88876902, 88876908-88876964, 88877958-88878064, 88878228-88878229, 88878235-88878307
287GALNS160.66284257488846529156988880852, 88884415-88884420, 88884427-88884514, 88884527-88884532, 88888997-88889007, 88889030, 88889050-88889052, 88889060-88889118, 88891185-88891217, 88891229-88891277, 88893146-88893169, 88893184-88893204, 88893234, 88898412-88898418, 88902180-88902202, 88902609-88902610, 88907412-88907416, 88907433-88907446, 88907497, 88907501-88907502, 88908307-88908334, 88908341-88908356, 88908361, 88909192, 88909232-88909237, 88923166-88923285
288SPG7160.84840871021776362238889574833-89574835, 89574843-89574849, 89574868-89574870, 89574910-89574925, 89574940-89574942, 89574972, 89574976-89574994, 89579356-89579376, 89598337-89598379, 89598399-89598405, 89614411-89614521, 89619425-89619431, 89619478, 89620202-89620226, 89620302, 89620322-89620325, 89620328, 89620351-89620368, 89623297, 89623330-89623350, 89623395-89623413, 89623466-89623495
289FANCA160.9848901098901166436889805098, 89805101-89805102, 89805940, 89837021-89837025, 89842161-89842168, 89882359-89882364, 89882955-89882966, 89882993-89883023
290TUBB3160.64818920916482476135389989810-89989866, 89998979-89998998, 89999074-89999077, 89999085-89999087, 89999892, 90001209, 90001275, 90001328-90001346, 90001435-90001446, 90001476-90001515, 90001571, 90001574, 90001583-90001596, 90001646-90001647, 90001661-90001704, 90001710-90001762, 90001793-90001807, 90001820, 90001852-90001853, 90001862-90001864, 90001879-90001978, 90001994-90002008, 90002022-90002025, 90002039, 90002043, 90002051, 90002070, 90002085, 90002110-90002151, 90002180-90002194, 90002199
291CTNS170.702410640066535812033543525-3543554, 3552152-3552153, 3552191-3552201, 3558628-3558634, 3559781-3559828, 3559836-3559880, 3559975-3559988, 3559997-3560002, 3560028-3560058, 3560067-3560070, 3560074-3560076, 3560079-3560081, 3560088, 3561299-3561330, 3561354, 3561374-3561377, 3561382-3561388, 3561396-3561398, 3561444, 3563170-3563174, 3563187-3563197, 3563200-3563202, 3563234-3563269, 3563548, 3563561, 3563570, 3563573-3563582, 3563618-3563629, 3563911-3563922, 3563995, 3564017-3564028
292CHRNE170.8684210526315819514824802327-4802334, 4802368-4802379, 4802572-4802614, 4802629, 4802763-4802776, 4804094-4804132, 4804189-4804191, 4804419-4804457, 4804478, 4804481-4804485, 4804869-4804875, 4805358-4805370, 4805377-4805382, 4805599-4805602
293PITPNM3170.9305982905982920329256358698-6358699, 6358701, 6358704, 6358709, 6358715-6358740, 6358773-6358775, 6358830-6358857, 6358866-6358898, 6358938-6358944, 6358953-6358954, 6367616, 6373611-6373622, 6374481-6374498, 6374523-6374538, 6374577-6374583, 6374621-6374626, 6374674-6374675, 6376112, 6377801-6377807, 6381362-6381363, 6381407-6381411, 6459705-6459726
294ACADVL170.9232723577235815119687123304-7123340, 7123356-7123365, 7123441-7123445, 7123456-7123502, 7123787-7123793, 7124085-7124089, 7124857-7124858, 7125271-7125281, 7125294, 7125306, 7125344, 7125347, 7125573, 7126051, 7127148-7127150, 7127666-7127667, 7127703, 7127811, 7127837, 7127976, 7128181-7128190, 7128278, 7128281
295CHRNB1170.970783532536524415067348447-7348489, 7348625
296MPDU1170.9919354838709767447489321-7489326
297GUCY2D170.9565217391304314433127906395-7906398, 7906444, 7906466-7906480, 7906494, 7906504, 7906519, 7906528, 7906571-7906578, 7906584-7906585, 7906599, 7906604-7906608, 7906665-7906681, 7906690-7906702, 7906709-7906721, 7906728-7906729, 7906836-7906870, 7907171-7907192, 7907204, 7907209
298ALOX12B170.989078822412162321067976229-7976233, 7980005, 7982730, 7983259, 7984491-7984505
299HES7170.95575221238938306788024903-8024911, 8024976-8024980, 8024991-8025003, 8025015-8025017
300ELAC2170.999596936719061248112896186
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376LDLR190.954316686024118258311200268-11200269, 11215956, 11216077, 11216082, 11216229-11216233, 11221421, 11222192-11222194, 11222203-11222206, 11222209, 11222274-11222288, 11224080-11224084, 11224122-11224125, 11224238-11224248, 11224297-11224305, 11224429-11224438, 11226848, 11226854, 11230881, 11233990, 11234003-11234020, 11238706, 11238709-11238714, 11238727, 11238733-11238735, 11238741-11238743, 11238747, 11240227, 11240315-11240321
377LDLR190.9719298245614828511240315-11240321, 11242057
378PRKCSH190.9558916194076970158711547322, 11548896, 11552082, 11557911, 11557948-11557975, 11558341-11558358, 11558536-11558553, 11558581, 11558602
379MAN2B1190.87285902503294386303612758092-12758099, 12758340-12758357, 12758397, 12759021-12759047, 12759072-12759078, 12759111-12759117, 12759185-12759190, 12763026-12763032, 12763180, 12766617-12766644, 12767419-12767441, 12767772-12767777, 12767842-12767845, 12767856-12767857, 12767861, 12768260-12768270, 12768279-12768316, 12768329-12768347, 12768353-12768369, 12768889-12768937, 12768943-12768955, 12769053-12769089, 12769140-12769158, 12769279-12769280, 12769290-12769324
380CACNA1A190.93099321898684519752113318182-13318186, 13318196-13318206, 13318265-13318314, 13318322-13318382, 13318395-13318415, 13318418-13318419, 13318434-13318452, 13318490-13318509, 13318543-13318548, 13318559-13318616, 13318640-13318737, 13318747-13318780, 13318832-13318853, 13319599-13319657, 13319692-13319696, 13409483-13409491, 13409499-13409509, 13409873-13409874, 13409885-13409902, 13616955-13616958, 13617023-13617026
381NOTCH3190.94329600918748395696615281631-15281636, 15285049, 15285052, 15285094-15285095, 15288551-15288556, 15302279, 15302353-15302379, 15302556-15302568, 15302572, 15302672-15302677, 15302775, 15302796, 15302808-15302846, 15302869-15302917, 15302941, 15302955, 15302971-15302974, 15302984-15303023, 15303065-15303102, 15303188-15303190, 15303231-15303246, 15303278-15303281, 15303290-15303301, 15308311-15308338, 15311610-15311700, 15311711-15311713
382JAK3190.87466666666667423337517940917-17940969, 17940979-17941027, 17941339-17941344, 17941384-17941390, 17942057, 17942499, 17945462-17945465, 17949108-17949116, 17950361-17950388, 17951061, 17952270, 17952478, 17953145-17953164, 17953194-17953199, 17953206-17953213, 17953239-17953357, 17953360-17953362, 17953842-17953855, 17953884-17953889, 17953892-17953894, 17953911-17953913, 17953940-17953955, 17953980-17953981, 17954207-17954213, 17954287, 17954638-17954647, 17954671-17954675, 17955151, 17955178-17955215
383SLC5A5190.968426501035261193217983300-17983310, 17984947-17984986, 17984995-17985004
384IL12RB1190.91452991452991170198918177475, 18179290-18179291, 18179332-18179336, 18182989, 18186559-18186565, 18186632-18186637, 18186643, 18187132-18187137, 18188330, 18188355, 18188358-18188386, 18188450-18188451, 18191695-18191731, 18191753-18191757, 18191769-18191777, 18191786-18191788, 18197570-18197623
385COMP190.77880386983289503227418893867, 18895030-18895031, 18896483-18896494, 18896517-18896538, 18896562-18896576, 18896649-18896661, 18896849-18896857, 18898300-18898326, 18898368-18898374, 18899059-18899071, 18899118-18899126, 18899219-18899233, 18899320-18899323, 18899413-18899423, 18899438, 18899461-18899464, 18899467, 18899477-18899545, 18899972-18900020, 18900030-18900038, 18900751-18900822, 18900836-18900865, 18900894-18900900, 18901386-18901419, 18901663-18901677, 18901703-18901713, 18902016-18902056
386CEBPA190.45496750232126587107733792244, 33792260-33792266, 33792378, 33792383-33792389, 33792398-33792402, 33792425, 33792483-33792505, 33792515-33792528, 33792570-33792584, 33792702-33792774, 33792787-33792797, 33792841-33792877, 33792900-33793179, 33793197-33793253, 33793266-33793320
387SCN1B190.965303593556382880735521725-35521748, 35521761-35521764
388MAG190.93301435406699126188135786533, 35786536, 35786542-35786551, 35786564, 35786572, 35790641, 35790649, 35790654-35790657, 35790662-35790693, 35790720-35790739, 35791050-35791080, 35791114-35791127, 35791228, 35793463-35793467, 35800804-35800806
389PRODH2190.984481688392325161136290982-36290997, 36291087-36291095
390NPHS1190.999731615673641372636336910
391TYROBP190.873156342182894333936398154, 36398158-36398163, 36398350-36398351, 36398370-36398374, 36398381, 36398384, 36398422-36398432, 36399072-36399087
392SDHAF1190.859195402298854934836486178-36486185, 36486191-36486194, 36486233, 36486245, 36486284, 36486292-36486294, 36486333-36486358, 36486399-36486401, 36486419, 36486437
393WDR62190.982502187226680457236558323-36558324, 36592152-36592154, 36593953-36593958, 36594493, 36594503, 36594879-36594882, 36595494, 36595728-36595758, 36595774, 36595779-36595784, 36595856-36595879
394RYR1190.950651584309067461511738931385, 38931404-38931405, 38931409, 38931427-38931442, 38937140, 38987504-38987542, 38987552-38987558, 38990386-38990392, 38990656, 38998425-38998428, 38998437-38998438, 39055612-39055628, 39055656-39055658, 39055670, 39055676-39055691, 39055703-39055813, 39055819-39056082, 39056135-39056178, 39056197-39056199, 39056211-39056223, 39056230-39056234, 39056237, 39056254-39056260, 39056269-39056312, 39056350-39056376, 39056391-39056411, 39068796, 39068838, 39075618-39075662, 39075686-39075712, 39075726-39075739
395ACTN4190.91593567251462230273639138422-39138423, 39138429-39138430, 39138487-39138502, 39138529-39138547, 39214655-39214656, 39214699, 39214797-39214809, 39214828-39214835, 39214943-39214954, 39214979, 39215071-39215083, 39215122-39215128, 39215172, 39215175, 39215178, 39215186-39215199, 39216374, 39216379, 39216474-39216483, 39217625, 39218591, 39218639-39218666, 39219710, 39219713, 39219738, 39219745-39219746, 39219754, 39219922-39219957, 39219983-39219996, 39220014, 39220018, 39220023, 39220028-39220043
396DLL3190.9768443726440543185739993500, 39993546, 39993549, 39993573-39993579, 39993592, 39993598, 39993601-39993604, 39994813-39994825, 39994892-39994894, 39998023-39998033
397PRX190.9854081167350764438640903422-40903430, 40909613-40909619, 40909663-40909683, 40909722-40909731, 40909753-40909769
398TGFB1190.72208013640239326117341837011-41837013, 41837064-41837083, 41837095, 41837105-41837111, 41838162-41838169, 41838182-41838186, 41847788-41847792, 41847854, 41847868-41847869, 41847872, 41847888, 41847896, 41848097-41848098, 41850675-41850677, 41850686-41850687, 41850712-41850725, 41854218-41854286, 41854306-41854357, 41858595-41858602, 41858638-41858639, 41858702-41858729, 41858766-41858772, 41858811-41858836, 41858867-41858888, 41858902-41858906, 41858919-41858949
399BCKDHA190.9798206278026927133841925195-41925198, 41928258-41928259, 41928596-41928599, 41929005-41929006, 41929010, 41929015, 41930343-41930347, 41930450-41930457
400ATP1A3190.93828167482327227367842470746-42470773, 42470781-42470787, 42470857-42470982, 42471010, 42471019, 42471031, 42471085, 42471089-42471095, 42471306-42471337, 42471349-42471362, 42471437, 42480581-42480586, 42480716, 42482817
401ETHE1190.99346405228758576544012109-44012112, 44012164
402BCAM190.9560148383677883188745312382-45312453, 45324037-45324039, 45324050, 45324054, 45324058, 45324062-45324063, 45324066-45324068
403BLOC1S3190.940886699507393660945682688-45682705, 45682748-45682753, 45683010, 45683051-45683061
404ERCC2190.93999123959702137228345867001-45867013, 45867100-45867149, 45867160-45867169, 45867295-45867316, 45867350-45867356, 45867521-45867523, 45867691-45867719, 45867769, 45868102, 45872382
405SIX5190.435585585585591253222046268759-46268777, 46268787-46268794, 46268820-46268860, 46268881-46268886, 46268931-46269010, 46269023-46269052, 46269118-46269132, 46269155-46269194, 46269204-46269292, 46269304-46269348, 46269363, 46269616-46269624, 46269637, 46269690-46269693, 46269727-46269728, 46269733, 46269764-46269765, 46269769, 46269793-46269795, 46269832, 46269863-46269903, 46269944-46269974, 46269991-46270027, 46270035-46270060, 46270092-46270095, 46270106, 46270120-46270144, 46270165-46270245, 46270268-46270309, 46270320-46270413, 46271313-46271343, 46271368-46271380, 46271393-46271397, 46271466-46271478, 46271522-46271544, 46271554-46271588, 46271595-46271616, 46271654-46271696, 46271729-46271734, 46271746-46271801, 46271808-46271862, 46271873-46271874, 46271877-46271918, 46271933, 46271939, 46271943-46271956, 46271969, 46271971, 46271977-46272035, 46272043-46272092
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407FKRP190.63508064516129543148847258711, 47258777-47258796, 47258919-47258925, 47258995-47259016, 47259053-47259086, 47259112-47259134, 47259151-47259155, 47259182-47259197, 47259203-47259233, 47259250-47259282, 47259308-47259312, 47259324-47259524, 47259534-47259542, 47259607-47259638, 47259644, 47259647, 47259664-47259674, 47259684-47259686, 47259689-47259690, 47259701-47259704, 47259711-47259758, 47260024-47260036, 47260156-47260176
408DBP190.5460122699386544497849134127-49134157, 49134172, 49134179, 49134182, 49134185-49134186, 49136744, 49136758, 49136857-49136877, 49138837-49138984, 49138994-49139000, 49139027-49139137, 49139149-49139196, 49139221-49139233, 49139238, 49139245-49139246, 49140174, 49140186-49140237, 49140245, 49140250
409BCAT2190.995759117896525117949303238, 49303292-49303295
410FTL190.99431818181818352849469079, 49469107, 49469110
411GYS1190.90740740740741205221449473104, 49473879-49473888, 49477901-49477905, 49481258, 49484792-49484795, 49488727-49488733, 49489185-49489194, 49489264-49489270, 49494559-49494581, 49494607-49494610, 49494627-49494631, 49494651, 49494655-49494656, 49494669-49494686, 49494697-49494740, 49496252-49496287, 49496305-49496324, 49496339, 49496345, 49496350-49496353, 49496369
412MED25190.88948306595365248224450321599-50321633, 50321667, 50321710-50321732, 50321835-50321836, 50321843-50321850, 50321853, 50321863-50321864, 50332287-50332290, 50333192, 50333773-50333783, 50334057, 50334073, 50334125, 50334645-50334646, 50334649-50334652, 50334659-50334667, 50335385-50335414, 50338402-50338424, 50338814, 50338829, 50339042, 50339146, 50339486-50339493, 50339554-50339555, 50339588-50339589, 50339607-50339651, 50340104-50340128, 50340140-50340141, 50340192
413PNKP190.998084291187743156650365657, 50365850, 50370380
414MYH14190.97038127965963181611150752995-50753005, 50753046, 50753807-50753813, 50760643, 50762426, 50764743-50764747, 50764801-50764809, 50764818-50764822, 50764832-50764836, 50764848-50764892, 50766585-50766587, 50766630-50766657, 50770210-50770225, 50779267-50779277, 50789914, 50794259-50794270, 50795627-50795646
415KCNC3190.71372031662269651227450823503-50823540, 50823551-50823553, 50823566-50823595, 50826244-50826246, 50826374-50826386, 50826400-50826402, 50826411, 50826453-50826482, 50826517-50826518, 50826522-50826523, 50826556, 50826565, 50826568-50826573, 50826915, 50831470-50831498, 50831634-50831730, 50831739-50831742, 50831753-50831784, 50831790, 50831805, 50831852-50831859, 50831879-50831915, 50831926-50831943, 50831960-50832009, 50832035-50832038, 50832091, 50832099-50832173, 50832180-50832339
416NLRP12190.994664155681117318654304517-54304524, 54307322, 54314156-54314160, 54314326, 54314425, 54314428
417PRKCG190.78414517669532452209454385778-54385779, 54385790-54385811, 54385895, 54385900, 54392892-54392941, 54392956-54393003, 54393169-54393217, 54393241-54393271, 54396242-54396244, 54401240, 54401244, 54401343, 54401722, 54401725, 54401734-54401795, 54401801-54401804, 54401824, 54401835-54401837, 54401851, 54401866-54401877, 54403552, 54403989, 54403996, 54409571-54409581, 54409593, 54409624, 54409629, 54409637-54409639, 54409643, 54409646-54409665, 54409961-54410006, 54410034-54410058, 54410080-54410087, 54410095-54410131
418PRPF31190.692462150054621674-54621727, 54621985-54621987, 54627156-54627160, 54627170-54627171, 54627182, 54627185, 54627937-54627945, 54629939-54629966, 54631448-54631477, 54631497-54631563, 54631569-54631575, 54631708-54631715, 54631727-54631730, 54631742-54631752, 54632432-54632468, 54632477-54632526, 54632532-54632560, 54632647-54632693, 54632700-54632745, 54634750-54634761, 54634778, 54634805-54634806, 54634840-54634846, 54634858
419TSEN34190.9914255091104893354695363-54695368, 54695371-54695372
420TNNT1190.6083650190114130978955644283-55644328, 55645255-55645271, 55645282-55645295, 55645447-55645458, 55645475-55645495, 55645519-55645524, 55649329-55649366, 55649421-55649442, 55652277-55652316, 55652321-55652322, 55652593-55652604, 55652613-55652650, 55652659-55652670, 55653256, 55657803, 55658049-55658075
421TNNI3190.889983579638756760955665414-55665421, 55665477, 55665480-55665487, 55665496, 55665517, 55665559-55665562, 55665565-55665568, 55666110-55666130, 55666153-55666154, 55667654, 55667688-55667690, 55667694, 55667991, 55668007, 55668010-55668012, 55668440-55668445, 55668459
422TPO20.8804425410421133528021481061-1481109, 1481164-1481169, 1481204-1481218, 1481231, 1497622-1497623, 1499927, 1520655-1520754, 1544366-1544495, 1546205-1546220, 1546226-1546233, 1546240-1546246
423KLF1120.9727095516569242153910183844-10183885
424MYCN20.9512544802867468139516082396-16082397, 16082400, 16082460, 16082544-16082579, 16082609-16082618, 16082652-16082653, 16082735-16082741, 16082951-16082959
425MATN320.995208761122527146120212357-20212363
426APOB20.9997808939526731369221266795-21266797
427POMC20.99875621890547180425384430
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429MPV1720.9924670433145453127535926-27535929
430SPAST20.9556996218260482185132289019-32289022, 32289067-32289069, 32289083-32289089, 32289132-32289156, 32289206-32289238, 32312615, 32340793-32340794, 32341212-32341218
431CYP1B120.9620098039215762163238302013-38302046, 38302217-38302226, 38302231, 38302291-38302292, 38302311, 38302406-38302419
432SOS120.9870064967516252400239222410, 39224115, 39224394, 39224458, 39224489-39224497, 39224546-39224566, 39251179-39251185, 39281918-39281928
433ABCG520.999488752556241195644058963
434ABCG820.9915924826904117202244099199-44099202, 44099233-44099237, 44099428-44099435
435LRPPRC20.9968936678614113418544209474-44209480, 44222955-44222960
436SIX320.99499499499499599945169430-45169432, 45169639-45169640
437EPCAM20.9957671957672494547596645, 47596692, 47596697, 47606185
438MSH220.9900178253119428280547630454-47630459, 47630466-47630485, 47637486-47637487
439MSH620.96620132255694138408348010380-48010385, 48010426-48010449, 48010458-48010507, 48010526-48010575, 48010597, 48010619-48010625
440LHCGR20.9904761904761920210048982763-48982782
441EFEMP120.997300944669374148256102090-56102093
442ATP6V1B120.997405966277564154271192162-71192165
443DYSF20.96194968553459242636071778792, 71796952-71796967, 71797822-71797833, 71801328-71801353, 71801364-71801399, 71801420-71801428, 71801461-71801463, 71825714-71825720, 71825785-71825789, 71825792-71825800, 71825804, 71825821-71825853, 71825870-71825875, 71827916-71827924, 71827935-71827940, 71827943, 71827946-71827961, 71829931, 71829934, 71838375, 71839905-71839907, 71839910, 71840477, 71847702-71847739
444SPR20.938931297709924878673114613-73114625, 73114714-73114729, 73114758, 73114762-73114763, 73114788-73114803
445ALMS120.9994401791426771250473613032-73613034, 73680525-73680528
446MOGS20.9785202863961854251474688444-74688447, 74688453, 74689277, 74689290, 74689846-74689849, 74689852, 74692253-74692260, 74692298-74692304, 74692340-74692366
447HTRA220.9876543209876517137774757239-74757255
448GGCX20.996486605182268227785788104-85788108, 85788522-85788524
449REEP120.98514851485149960686564612-86564620
450EIF2AK320.9844822441062452335188879083, 88926637, 88926640, 88926698-88926705, 88926726-88926752, 88926769-88926782
451TMEM12720.965132496513252571796930927-96930932, 96930984-96930998, 96931071, 96931091-96931093
452ZAP7020.9548387096774284186098340551-98340556, 98340599, 98340749-98340767, 98340806-98340816, 98340820-98340852, 98349361-98349367, 98349457-98349463
453RANBP220.936330749354016169675109336124-109336134, 109345588-109345589, 109347836-109347880, 109352560, 109357100-109357116, 109363251-109363254, 109365376, 109365388-109365430, 109367720-109367743, 109367831-109367847, 109367868-109367889, 109368037-109368080, 109368104-109368111, 109368433, 109368437, 109368449, 109370306-109370327, 109370379-109370411, 109371388, 109371656-109371688, 109378557-109378567, 109378650-109378651, 109383052-109383058, 109383110, 109383137-109383148, 109383249-109383275, 109383295-109383301, 109383327-109383360, 109383657-109383678, 109383769-109383812, 109383888, 109384164-109384205, 109384560-109384567, 109384597-109384634, 109384664, 109384782-109384807, 109397829, 109397832
454MERTK20.99303000112656314-112656343
455PAX820.9963045084996351353113994193-113994197
456GLI220.892249527410215134761121708957-121708962, 121742293-121742294, 121745983-121745992, 121746054-121746060, 121746072-121746087, 121746125-121746189, 121746207-121746227, 121746233-121746260, 121746266, 121746274, 121746287-121746297, 121746315-121746339, 121746398-121746402, 121746426-121746447, 121746494-121746610, 121746753-121746799, 121747063-121747081, 121747163-121747172, 121747180, 121747184, 121747300-121747331, 121747384-121747402, 121747406, 121747420, 121747457-121747469, 121747473-121747486, 121747589-121747599, 121747657, 121747709-121747714
457BIN120.869809203142542321782127806115-127806119, 127806164-127806171, 127806206, 127808052-127808068, 127808400-127808407, 127808460-127808488, 127808733-127808739, 127808808-127808811, 127808814-127808815, 127810999-127811021, 127811575-127811588, 127815059-127815063, 127815074-127815119, 127819733-127819739, 127819773, 127827614-127827629, 127834270-127834282, 127864491-127864516
458PROC20.867243867243871841386128178888, 128178901, 128180493-128180510, 128180638, 128180656-128180747, 128180882, 128180904-128180929, 128180953-128180957, 128183668-128183672, 128184681-128184705, 128186180-128186186, 128186191, 128186469
459CFC120.8660714285714390672131280364-131280403, 131280430, 131280433, 131280454-131280455, 131280786-131280828, 131285321-131285323
460NEB20.997947331530994119974152432721-152432726, 152432776-152432777, 152432784-152432786, 152432790-152432799, 152432812-152432825, 152432863-152432868
461SCN1A20.99816574954144115997166908290-166908300
462ITGA620.9978632478632573276173292517-173292523
463CHN120.9985507246376821380175869626, 175869640
464HOXD1320.98740310077519131032176957667-176957678, 176957681
465AGPS20.9989883662114321977178362455-178362456
466PRKRA20.9787685774946920942179300889, 179312232-179312245, 179312312-179312313, 179315755-179315757
467DFNB5920.98300283286119181059179318280, 179318284-179318292, 179318296, 179318307, 179318323, 179319061-179319065
468TTN20.999940148431896100248179442084-179442085, 179514901-179514902, 179514909, 179514912
469CERKL20.94746716697936841599182468571-182468573, 182468611-182468634, 182468638-182468648, 182468689-182468713, 182468753-182468766, 182468792-182468798
470COL3A120.99613724153601174401189854165-189854175, 189861199-189861204
471HSPD120.9959349593495971722198351835-198351841
472BMPR220.9980750721847963117203332345, 203384823-203384824, 203397429-203397431
473NDUFS120.9958791208791292184207009746-207009747, 207018364, 207018375, 207018380-207018384
474FASTKD220.9976558837318352133207631638-207631642
475PNKD20.9982728842832521158219204533, 219204604
476WNT10A20.9585326953748521254219745718-219745732, 219757542-219757558, 219757603-219757611, 219757862-219757872
477DES20.95612172682236621413220283216-220283245, 220283267, 220283270-220283278, 220283442, 220283583-220283597, 220283706-220283710, 220286190
478OBSL120.918467756106134645691220416251-220416271, 220416292-220416329, 220416369-220416373, 220416463-220416471, 220416503-220416520, 220416840-220416879, 220416900-220416922, 220417275-220417277, 220417299-220417300, 220417318, 220417324-220417327, 220417332, 220417354-220417359, 220417381-220417414, 220417601-220417620, 220417631-220417634, 220417661-220417662, 220417740-220417746, 220420811-220420816, 220435378-220435382, 220435494-220435537, 220435563-220435569, 220435595-220435626, 220435634-220435677, 220435692-220435700, 220435733-220435761, 220435873-220435879, 220435912-220435954
479PAX320.9993412384716711518223161789
480COL4A320.9984041492120585013228163454, 228163462-228163468
481CHRND20.98069498069498301554233390931-233390932, 233390946, 233390949-233390952, 233390976-233390977, 233394674-233394676, 233396338-233396354, 233398949
482CHRNG20.99163449163449131554233409239-233409242, 233409482-233409490
483SAG20.9958949096880151218234224744-234224748
484AGXT20.790500424088212471179241808283-241808319, 241808352-241808365, 241808402-241808447, 241808587-241808592, 241808627-241808640, 241808660-241808689, 241808711-241808717, 241808773-241808775, 241810065-241810124, 241810808-241810811, 241810850-241810853, 241812434, 241816969, 241816971-241816979, 241816988-241816996, 241817035, 241817495
485D2HGDH20.874201787994891971566242674659-242674663, 242674666, 242674743-242674755, 242674868, 242689593, 242689598-242689600, 242689610-242689615, 242689707-242689709, 242690765, 242695296, 242695376, 242695396, 242695427-242695429, 242707133-242707147, 242707160-242707223, 242707232-242707237, 242707249, 242707285-242707335, 242707345-242707361, 242707378, 242707383-242707384
486C20orf54200.9992907801418411410744535
487AVP200.83636363636364814953063295-3063296, 3063336-3063339, 3063392, 3063421-3063448, 3063625, 3063634-3063657, 3063662, 3063681-3063683, 3063773-3063779, 3063815-3063824
488PANK2200.97489784004674317133869977-3869981, 3870124-3870125, 3870226, 3870259-3870290, 3870366-3870368
489JAG1200.9890620727372240365710626719-10626722, 10654135-10654160, 10654169-10654178
490SNTA1200.84650856389987233151831996516, 32000152-32000157, 32000217-32000227, 32000431-32000434, 32000558, 32000567, 32000571, 32000578, 32000584, 32031117-32031118, 32031156-32031193, 32031207, 32031215-32031250, 32031257-32031260, 32031272, 32031277, 32031288-32031291, 32031293-32031295, 32031308-32031343, 32031347-32031426
491GDF5200.998007968127493150634022364, 34025117, 34025201
492HNF4A200.995087719298257142543052729-43052732, 43052773-43052775
493ADA200.992673992673998109243252895-43252898, 43280216-43280219
494CTSA200.981295925183728149744520238-44520259, 44520576, 44523633, 44526371-44526373, 44526378
495GNAS200.7262872628726320273857415168-57415207, 57415223-57415233, 57415239-57415242, 57415332, 57415353, 57415356, 57415413, 57415458-57415482, 57415526-57415536, 57415543-57415547, 57415566-57415593, 57415640-57415645, 57415683, 57415695-57415731, 57415772-57415784, 57415799-57415801, 57415818-57415819, 57415854, 57415863-57415864, 57415891-57415899
496GNAS200.81727681438664569311457428438-57428459, 57428462-57428463, 57428535-57428541, 57428693, 57428703-57428722, 57428843-57428851, 57428916-57428927, 57428952-57428955, 57428966-57428967, 57428974, 57428979-57428983, 57429042-57429086, 57429094-57429100, 57429144-57429156, 57429160-57429162, 57429200-57429228, 57429273, 57429281-57429292, 57429345, 57429348, 57429353, 57429468-57429514, 57429542-57429619, 57429632-57429666, 57429678-57429718, 57429757-57429783, 57429794-57429796, 57429819-57429860, 57429885-57429886, 57429889, 57430026-57430040, 57430066-57430085, 57430237, 57430261, 57430283-57430297, 57430304-57430340, 57430383-57430388
497EDN3200.99860529986053171757875890
498COL9A3200.56642335766423891205561448417-61448494, 61448919-61448987, 61449878, 61449888-61449905, 61450576-61450645, 61451281-61451325, 61452533-61452561, 61452859-61452867, 61453109-61453152, 61453465, 61453473, 61453485-61453516, 61453969-61453984, 61455815-61455853, 61456320-61456373, 61457169-61457181, 61457193-61457198, 61457219-61457222, 61457556, 61457567-61457569, 61457585-61457609, 61458119, 61458142-61458172, 61458599-61458631, 61459316-61459320, 61460116-61460121, 61460126, 61460275-61460300, 61460307-61460328, 61460807-61460808, 61460996, 61461009, 61461118-61461136, 61461152-61461155, 61461158, 61461165-61461168, 61461712-61461730, 61461740-61461741, 61461761, 61461764, 61461869-61461940, 61463523-61463541, 61467539-61467585, 61467642, 61467646, 61467674, 61468438-61468447, 61468571, 61472001
499CHRNA4200.0398089171974521809188461978090-61978215, 61981005-61981390, 61981397-61981815, 61981824-61981959, 61981968-61982012, 61982016, 61982031-61982260, 61982284, 61982288-61982301, 61982303-61982315, 61982325-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
500KCNQ2200.171439480717832170261962037997-62038249, 62038261-62038505, 62038521-62038546, 62038559-62038644, 62038664-62038727, 62039766-62039879, 62044803-62044826, 62044849-62044920, 62045441, 62045474, 62045523-62045524, 62045535, 62046256-62046260, 62046268-62046334, 62046344-62046376, 62046394-62046439, 62046446-62046461, 62050972-62050976, 62051009-62051025, 62055541-62055544, 62059726, 62059730-62059771, 62059775, 62059778, 62062693-62062720, 62065162-62065173, 62065178, 62065181-62065182, 62065193, 62065197-62065217, 62065247, 62065251, 62069978-62070001, 62070009-62070053, 62070951-62070984, 62071005-62071061, 62073759-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078190, 62103521-62103816
501SOX18200.0346320346320351115115562679519-62679521, 62679527-62679538, 62679551-62679885, 62679900-62680000, 62680010-62680315, 62680512-62680869
502IFNGR2210.9280078895463573101434775850-34775922
503RCAN1210.909090909090916975935987149-35987171, 35987184-35987205, 35987226-35987228, 35987239-35987243, 35987251, 35987254-35987255, 35987260-35987261, 35987270-35987278, 35987291-35987292
504RUNX1210.9993069993071144336164464
505CLDN14210.955555555555563272037833274-37833275, 37833549-37833573, 37833582-37833586
506TMPRSS3210.9926739926739910136543795861-43795870
507CBS210.9812801932367231165644474006-44474007, 44479025, 44479028, 44479343, 44479351-44479359, 44488645, 44488689-44488696, 44488699, 44492207-44492213
508CSTB210.861952861952864129745196095-45196101, 45196105-45196130, 45196143-45196150
509AIRE210.265567765567771203163845705890-45705914, 45705929-45705931, 45705936-45705937, 45705964-45706006, 45706449-45706455, 45706465, 45706470, 45706479-45706537, 45706547-45706567, 45706585-45706600, 45706861-45706908, 45706921-45706961, 45706970-45707001, 45707400-45707412, 45707415, 45707420, 45707423-45707428, 45707435, 45707438, 45707467-45707474, 45708228-45708230, 45708241-45708254, 45708263-45708326, 45709540-45709558, 45709568-45709611, 45709617-45709662, 45709672, 45709681-45709685, 45709871-45709922, 45709932-45709951, 45710978-45710981, 45711005-45711076, 45711087, 45712185-45712217, 45712230-45712231, 45712243-45712280, 45712876-45712888, 45712894-45712950, 45712964-45713058, 45713672-45713717, 45713736, 45713743-45713770, 45713780, 45713785, 45714284-45714386, 45716266-45716328, 45717539-45717585
510ITGB2210.80562770562771449231046306747-46306750, 46306795-46306799, 46308608-46308624, 46308640, 46308651-46308680, 46308701-46308704, 46308707, 46308736-46308810, 46309191-46309196, 46309245-46309249, 46309289-46309292, 46309295-46309303, 46309324-46309358, 46309376-46309400, 46309924-46309926, 46309950-46309991, 46310001-46310003, 46310017-46310023, 46310030-46310032, 46310111, 46311731, 46311735-46311746, 46311770-46311780, 46311806-46311808, 46311813, 46311818-46311820, 46311872-46311910, 46313433-46313445, 46320248-46320271, 46320353-46320366, 46320390, 46321420, 46326838-46326866, 46326905, 46326917, 46326922-46326923, 46326932-46326937, 46326950-46326951, 46330269-46330272, 46330677
511COL18A1210.350237416904083421526546875462-46875484, 46875491-46875495, 46875507-46875509, 46875589-46875608, 46875643-46875684, 46875704, 46875733-46875738, 46875742, 46875785, 46875806-46875838, 46875850-46875861, 46875864-46875881, 46875885-46875886, 46875929-46875950, 46876023-46876059, 46876074-46876075, 46876083, 46876088-46876125, 46876130-46876160, 46876173, 46876186-46876195, 46876205-46876261, 46876270-46876274, 46876278-46876291, 46876303-46876336, 46876398-46876401, 46876410-46876445, 46876474-46876588, 46876606-46876629, 46876637-46876717, 46876722, 46876726-46876727, 46876749-46876760, 46876770, 46876784-46876795, 46888162-46888196, 46888214-46888241, 46888245, 46888248, 46888251-46888255, 46888263, 46888266-46888268, 46888272, 46888324, 46888337-46888341, 46888376-46888399, 46888402, 46888405-46888415, 46888460-46888474, 46888521-46888543, 46888569-46888574, 46888578, 46888593-46888682, 46888695, 46895401-46895422, 46895438, 46896271, 46896280, 46896283, 46896287, 46897353-46897355, 46897790-46897816, 46897819, 46899839-46899878, 46899984-46899986, 46900003, 46900011, 46900014-46900043, 46900069, 46900381-46900415, 46900654, 46900666-46900673, 46900677-46900679, 46900697-46900698, 46900702-46900709, 46900770-46900772, 46901877-46901902, 46906775-46906787, 46906799-46906881, 46907361-46907381, 46907398-46907423, 46908332-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929279, 46929289-46929295, 46929302-46929515, 46929978-46930175, 46931025-46931054, 46931061-46931099, 46931105-46931140, 46932102-46932312
512COL6A1210.396501457725951863308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409522-47409566, 47409666-47409692, 47410172-47410198, 47410292-47410336, 47410687-47410740, 47410902-47410918, 47410951-47410955, 47411924-47411934, 47411938-47411941, 47411978-47411986, 47412078-47412082, 47412085-47412113, 47412124-47412131, 47412294-47412312, 47412662-47412695, 47414081-47414097, 47414124-47414140, 47417342, 47417346-47417347, 47417358-47417372, 47417397, 47417614-47417666, 47417674-47417676, 47418035-47418047, 47418068-47418085, 47418312-47418317, 47418332-47418338, 47418347, 47418824-47418836, 47418849, 47418862, 47419067-47419071, 47419102-47419132, 47419571-47419601, 47420278-47420279, 47420673-47420681, 47421196-47421228, 47421250-47421263, 47421268-47421276, 47421924-47421936, 47421974-47421979, 47422155-47422162, 47422165-47422171, 47422184, 47422187, 47422239-47422248, 47422275-47422282, 47422296, 47422442-47422453, 47422524-47422552, 47422566, 47422572, 47422587, 47423034, 47423305-47423307, 47423332-47423358, 47423390-47423433, 47423439-47423473, 47423479-47423548, 47423622-47423671, 47423717, 47423792-47423799, 47423865, 47423904-47423927
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514COL6A221034234247552183-47552524
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736DBH90.79827400215753741854136501795-136501799, 136504968-136504970, 136505014-136505018, 136505114, 136513056, 136513060-136513062, 136516756-136516796, 136516830-136516833, 136516842-136516891, 136517394-136517398, 136517406, 136521645-136521653, 136521664-136521668, 136521674-136521772, 136522192-136522198, 136522227-136522313, 136522336-136522338, 136522340-136522351, 136523485-136523489, 136523515-136523542
737SARDH90.696046427276028382757136529011-136529072, 136529083-136529088, 136529098-136529132, 136531857-136531866, 136531880-136531992, 136535706-136535874, 136536657-136536819, 136550350-136550354, 136550383-136550408, 136555502-136555545, 136555563-136555571, 136555580-136555620, 136559380-136559397, 136559421-136559450, 136559460-136559493, 136568063-136568073, 136573409-136573425, 136573455-136573470, 136573541-136573550, 136577762-136577765, 136577828-136577831, 136578160-136578170
738COL5A190.7498640565524713805517137534034-137534142, 137582758-137582808, 137582811, 137582829-137582843, 137582868-137582915, 137591755-137591780, 137591796-137591919, 137591950-137591968, 137593017-137593070, 137593076, 137593079-137593080, 137593103-137593179, 137619157, 137619173, 137620589-137620592, 137622177, 137622240, 137623344-137623359, 137623457-137623501, 137630328-137630350, 137642388-137642427, 137642655-137642685, 137642697, 137642704, 137642712-137642728, 137644435-137644436, 137644449, 137644458-137644482, 137645696-137645749, 137646119-137646123, 137646153-137646172, 137648611, 137648620-137648648, 137650108, 137650111, 137650114, 137653771-137653824, 137655539-137655583, 137657543-137657545, 137657561-137657580, 137658300-137658322, 137658855, 137658867, 137659177-137659196, 137660264, 137666733-137666741, 137666757-137666758, 137671948-137671971, 137671981-137671992, 137676855, 137676873, 137676885, 137676921, 137676928, 137676932-137676934, 137676940-137676942, 137677841-137677881, 137688700-137688702, 137693800-137693835, 137694826, 137696841-137696856, 137696882-137696891, 137697009-137697049, 137703415-137703421, 137705837-137705850, 137708904-137708925, 137710544-137710581, 137710694-137710697, 137726867-137726872, 137726875-137726878, 137726884, 137726889, 137726902, 137726905-137726908, 137726917-137726960, 137726973-137726982, 137726988
739LHX390.521091811414395791209139089193-139089245, 139089259-139089291, 139089320-139089333, 139089338-139089352, 139089369-139089407, 139089464-139089467, 139089504-139089507, 139089553-139089576, 139090498-139090500, 139090538-139090554, 139090604, 139090607-139090608, 139090617-139090666, 139090754-139090905, 139091566-139091617, 139091685-139091689, 139092481-139092497, 139094792-139094885
740INPP5E90.4242894056847511141935139325454-139325468, 139325506, 139325538-139325569, 139326276-139326373, 139326387-139326437, 139326931-139326960, 139326988-139327008, 139327014-139327017, 139327023, 139327031-139327038, 139327408-139327421, 139327501-139327518, 139327628-139327631, 139327659-139327674, 139327681-139327731, 139328489-139328500, 139328516-139328554, 139329199-139329229, 139329247-139329248, 139329269, 139329273-139329274, 139333060-139333079, 139333086-139333180, 139333201-139333283, 139333288-139333290, 139333306-139333355, 139333422-139333652, 139333676-139333707, 139333723-139333871
741NOTCH190.08828899321857169917668139390523-139390549, 139390565, 139390568-139390569, 139390574-139390592, 139390595-139390614, 139390621-139390627, 139390634-139391117, 139391123-139391129, 139391138-139391341, 139391352-139391919, 139391930-139392010, 139393360-139393394, 139393408-139393448, 139393564-139393605, 139393620-139393643, 139393648-139393678, 139393704-139393711, 139395004-139395061, 139395075, 139395079-139395162, 139395164-139395190, 139395200-139395299, 139396200-139396338, 139396360-139396365, 139396453-139396540, 139396724-139396746, 139396758-139396799, 139396817-139396940, 139397634-139397782, 139399125-139399138, 139399144-139399168, 139399178-139399213, 139399218, 139399220, 139399235-139399251, 139399263, 139399266-139399318, 139399323-139399324, 139399344-139399481, 139399489-139399556, 139399762-139399949, 139399977-139400050, 139400058-139400063, 139400081-139400333, 139400979-139401040, 139401054-139401091, 139401168-139401404, 139401413-139401425, 139401757-139401827, 139401845-139401861, 139401874-139401889, 139402407-139402591, 139402684-139402706, 139402727-139402837, 139403322-139403473, 139403489-139403496, 139403500-139403502, 139403508-139403510, 139403521-139403523, 139404185-139404212, 139404223-139404263, 139404271, 139404276, 139404291-139404296, 139404316-139404317, 139404326-139404328, 139404363-139404404, 139405105-139405122, 139405144-139405183, 139405198-139405257, 139405604-139405633, 139405649-139405662, 139405668-139405723, 139407473-139407586, 139407844-139407907, 139407922-139407989, 139408962-139408982, 139408991-139408992, 139409006-139409075, 139409089-139409098, 139409122-139409154, 139409750-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
742AGPAT290.22939068100358645837139568204-139568227, 139568237, 139568244, 139568250-139568271, 139568281-139568289, 139568317-139568362, 139569187-139569190, 139569193-139569227, 139569246-139569251, 139569254-139569259, 139571051-139571080, 139571099-139571108, 139571112-139571115, 139571418-139571522, 139571539-139571548, 139571551-139571563, 139571570-139571588, 139571875-139571985, 139571997-139572003, 139581628-139581809
743SLC34A390.15515211800140126155-140126204, 140126228-140126239, 140126530-140126558, 140126582-140126606, 140127027-140127064, 140127072-140127074, 140127077, 140127080, 140127100-140127114, 140127121-140127126, 140127129-140127155, 140127236-140127283, 140127319-140127326, 140127330-140127366, 140127477-140127522, 140127560-140127567, 140127661-140127680, 140127684, 140127709-140127856, 140128085-140128174, 140128315-140128317, 140128324-140128393, 140128561-140128728, 140128868-140128870, 140128877-140128984, 140129059-140129114, 140129123, 140129127-140129183, 140130404-140130631, 140130637-140130668, 140130678-140130757, 140130767-140130868
744EHMT190.796510136002057933897140513481-140513501, 140605428-140605457, 140611078-140611634, 140622813, 140622843, 140622958, 140669590, 140669634-140669635, 140669642-140669643, 140669647-140669649, 140669664-140669703, 140671138, 140671141, 140671155-140671161, 140671164, 140671229-140671235, 140671258-140671280, 140672348-140672363, 140672367-140672368, 140672397, 140672457, 140674087-140674109, 140708936-140708938, 140728872, 140728893, 140728897, 140728907, 140728918, 140728942-140728943, 140728954, 140729276-140729298, 140729325, 140729329-140729334, 140729396-140729405
745SHOXX0.45164960182025482879591633-591909, 595353-595413, 595423-595559, 605231-605237
746CSF2RAX0.3555555555555684113051401598-1401625, 1401633, 1401655-1401672, 1404671-1404699, 1404771-1404813, 1407443-1407491, 1407527-1407534, 1407671-1407697, 1407724-1407731, 1407765-1407781, 1409269-1409273, 1409300-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419392, 1419402-1419519, 1422154-1422244, 1422253, 1422816-1422873, 1422880-1422888, 1422893-1422909, 1424394-1424408, 1428295-1428317
747KAL1X0.9985315712188320438699981, 8699984, 8699988
748SMSX0.9673024523160836110121958943-21958963, 21958972-21958986
749ARXX0.90941385435169153168925031455, 25031470-25031503, 25031524-25031541, 25031551-25031560, 25031577-25031580, 25031648-25031650, 25031662-25031679, 25031686, 25031693, 25031768-25031779, 25031782, 25031820-25031835, 25031882-25031915
750RPGRX0.592078635443771411345938144793-38144801, 38144804-38144832, 38144859-38144889, 38144901-38144980, 38144994, 38145004-38145009, 38145051, 38145054-38145068, 38145071-38145076, 38145093-38145112, 38145130, 38145152-38145167, 38145188-38145234, 38145249-38145853, 38145886-38145937, 38145953-38145975, 38145980-38145987, 38146011-38146197, 38146211, 38146235-38146243, 38146304-38146310, 38146315-38146317, 38146321-38146322, 38146355-38146414, 38146443-38146498, 38147114-38147174, 38147195-38147239, 38150212-38150222, 38150229-38150240, 38158316-38158321, 38176638
751NYXX0.64868603042877508144641332744, 41332775, 41332806-41332808, 41332864, 41332892-41332894, 41332898-41332904, 41332931-41332933, 41332970-41332982, 41333023-41333072, 41333090-41333116, 41333143-41333170, 41333191-41333212, 41333222-41333325, 41333339-41333432, 41333445-41333474, 41333485-41333526, 41333533-41333548, 41333641-41333650, 41333725-41333744, 41333789, 41333793-41333797, 41333935-41333936, 41333998, 41334042-41334065
752CASKX0.999276934201012276641485874, 41485897
753MAOAX0.9728535353535443158443571187-43571197, 43571952-43571963, 43571970, 43571974, 43571989-43571992, 43572030-43572043
754CACNA1FX0.9747219413549150593449061597-49061620, 49061639-49061701, 49061708, 49061781, 49061793, 49062138, 49062204-49062222, 49062973-49062991, 49063067-49063069, 49063073, 49063080-49063082, 49063194-49063201, 49065132, 49065831, 49066812, 49067089, 49067509, 49086754
755FOXP3X0.998456790123462129649112197, 49114905
756FGD1X0.9902979902979928288654521754, 54521800, 54521836-54521861
757ARX0.968512486427887276366765145-66765231
758DLG3X0.999592502037491245469665216
759MED12X0.9952555861646831653470361094-70361124
760TAF1X0.986624428018376568270586166-70586173, 70586182-70586241, 70586250-70586257
761SLC16A2X0.998914223669922184273641402, 73641414
762ABCB7X0.99734748010616226274291513-74291518
763ATRXX0.9966573071266225747976907778-76907802
764ATP7AX0.9977792582722610450377258628-77258637
765PCDH19X0.9879007864488840330699663556-99663595
766NDUFA1X0.8215962441314638213119007296-119007321, 119010486-119010497
767CUL4BX0.9992706053975222742119673138-119673139
768XIAPX0.9805890227577291494123019584-123019587, 123019743-123019744, 123025119-123025134, 123040945-123040951
769ZIC3X0.99145299145299121404136651139-136651149, 136651224
770SOX3X0.96718866517524441341139586148-139586159, 139586244, 139586471-139586480, 139586485-139586494, 139586514, 139586691-139586700
771FAM58AX0.9034013605442271735152858166, 152864450-152864480, 152864483-152864521
772SLC6A8X0.600104821802947631908152954030-152954291, 152955882, 152955903, 152955946-152955959, 152956929-152956991, 152957434-152957467, 152957512, 152957538, 152957554, 152958512-152958546, 152958551, 152958556, 152958625-152958630, 152958760, 152958922-152958946, 152959372, 152959375, 152959384-152959385, 152959396-152959406, 152959415, 152959452-152959453, 152959585-152959595, 152959603-152959664, 152959674-152959722, 152959799-152959804, 152959833-152959872, 152959900-152959901, 152959988-152960001, 152960019, 152960025, 152960030, 152960174-152960193, 152960213-152960251, 152960290-152960291, 152960304, 152960340-152960341, 152960344, 152960529-152960543, 152960551-152960566, 152960590, 152960597-152960608, 152960636, 152960657
773ABCD1X0.3757819481680113972238152990722-152990755, 152990771-152991033, 152991060-152991062, 152991072-152991160, 152991167-152991179, 152991185-152991195, 152991197-152991311, 152991333-152991347, 152991384-152991557, 152991575, 152991582-152991621, 152994702, 153001566-153001592, 153001611, 153001617-153001666, 153001682-153001704, 153001813, 153001818-153001819, 153001830, 153001847-153001871, 153001908-153001910, 153001922-153001946, 153001962-153001967, 153002611-153002618, 153002626, 153002663-153002693, 153005554-153005572, 153005596-153005640, 153005689, 153006035, 153006040-153006050, 153006053, 153006073-153006097, 153006128-153006173, 153008441-153008442, 153008466-153008486, 153008675-153008678, 153008701-153008734, 153008749-153008797, 153008943-153008962, 153008981-153008992, 153009004-153009062, 153009074-153009086, 153009101-153009143, 153009162-153009189
774L1CAMX0.98145204027557703774153130309, 153130328, 153132851-153132852, 153133362-153133365, 153133815, 153135039, 153135307-153135345, 153135554-153135556, 153135843-153135853, 153135878, 153136580, 153136611, 153137609, 153141243, 153141271-153141272
775AVPR2X0.9919354838709791116153172083-153172091
776MECP2X0.95858383433534621497153363061-153363122
777OPN1LWX0.93059360730594761095153418520-153418546, 153420176, 153421890-153421919, 153424297-153424300, 153424347-153424360
778OPN1MWX0.857534246575341561095153448174-153448182, 153453337-153453343, 153453443-153453449, 153453474-153453510, 153455650-153455668, 153457286-153457303, 153458989, 153458993, 153459007, 153459022, 153459043-153459083, 153461477-153461490
779OPN1MWX0.857534246575341561095153485292-153485300, 153490455-153490461, 153490561-153490567, 153490592-153490628, 153492768-153492786, 153494404-153494421, 153496161-153496201, 153498545-153498548, 153498595-153498608
780FLNAX0.7236908358509621957944153577285, 153577288, 153577291-153577299, 153577381, 153577388, 153577404, 153577770, 153577775-153577777, 153577783, 153577808-153577815, 153577818-153577836, 153577841, 153577845-153577847, 153577878-153577901, 153577919-153577933, 153578119-153578124, 153578213-153578235, 153578533-153578535, 153579291-153579297, 153579404, 153580042-153580043, 153580319, 153580584, 153580608, 153580619-153580636, 153580643, 153580739-153580764, 153580948-153580978, 153581006-153581015, 153581140-153581144, 153581154, 153581282, 153581289-153581290, 153581385, 153581391, 153581420-153581421, 153581424, 153581430-153581431, 153581475-153581524, 153581564-153581572, 153581675, 153581687-153581690, 153581719-153581784, 153581810-153581820, 153581923, 153581927, 153581932, 153581969-153581973, 153582085, 153582089-153582095, 153582320-153582331, 153582373-153582377, 153582545, 153582566-153582573, 153582580-153582583, 153582642, 153582773-153582776, 153583010-153583033, 153583060-153583079, 153583203, 153583219-153583225, 153583258-153583273, 153583340-153583348, 153583356-153583398, 153583409-153583423, 153585802-153585861, 153585921-153585937, 153586567-153586587, 153586592, 153586632-153586661, 153586847-153586854, 153586860, 153586879-153586895, 153587368-153587369, 153587429-153587442, 153587489-153587495, 153587614-153587677, 153587695-153587721, 153587740-153587766, 153587770, 153587854-153587880, 153587898-153587905, 153587929-153587961, 153587970-153587984, 153587987-153588003, 153588100-153588135, 153588144-153588150, 153588179-153588198, 153588209-153588245, 153588259, 153588262, 153588269-153588273, 153588358-153588365, 153588381, 153588387-153588432, 153588452-153588495, 153588516-153588517, 153588522-153588534, 153588562-153588585, 153588615-153588634, 153588638, 153588643, 153588662-153588691, 153588699-153588718, 153588809, 153588819-153588821, 153588829, 153588853-153588888, 153588898-153588936, 153589676-153589709, 153589724, 153589742-153589762, 153589769, 153589774, 153589867, 153589905, 153590100-153590135, 153590149-153590151, 153590385, 153590400, 153590435-153590453, 153590479, 153590492, 153590499-153590501, 153590504-153590505, 153590629-153590665, 153590795, 153590814-153590823, 153590828, 153590924-153590946, 153591029-153591056, 153591079-153591083, 153591086-153591092, 153591095-153591096, 153592395, 153592409, 153592447-153592450, 153592519-153592533, 153592727-153592733, 153592966-153593006, 153593074-153593087, 153593223, 153593226-153593228, 153593232-153593238, 153593316, 153593542, 153593547-153593553, 153593730-153593732, 153593737-153593740, 153593778-153593813, 153593821, 153593853-153593854, 153594416-153594433, 153594503, 153594508-153594512, 153594682, 153594705, 153594715, 153594770-153594782, 153594811-153594838, 153594930-153594940, 153594946, 153594949, 153595100-153595117, 153595152, 153595766-153595769, 153595838, 153596015-153596047, 153596240-153596272, 153596284-153596319, 153596451-153596458, 153599241-153599299, 153599322, 153599389-153599421, 153599424-153599426, 153599429, 153599432-153599463, 153599470-153599476, 153599479-153599493, 153599500-153599506, 153599530-153599570, 153599580-153599613
781EMDX0.8758169934640595765153607845-153607857, 153607885-153607891, 153607907-153607922, 153608077-153608115, 153608144, 153608362-153608368, 153608711, 153609298-153609303, 153609523-153609525, 153609555-153609556
782TAZX0.82889733840304135789153640181-153640192, 153640199, 153640213-153640241, 153640255-153640282, 153640424-153640461, 153640477, 153640509-153640518, 153640524, 153640530-153640531, 153641832-153641843, 153641903
783GDI1X0.9992559523809511344153669496
784G6PDX0.99084249084249151638153760255-153760256, 153760601-153760609, 153761320, 153761835, 153761838, 153775070
785IKBKGX0.98497267759563221464153789989-153789995, 153792573-153792587
786IKBKGX0.983640081799598489153868347-153868354
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5ABCA4-P1380Lhet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
2.5TMPO-R690Chet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2FANCG-R513Qhet unknown0.007Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.048 (benign), Testable gene in GeneTests with associated GeneReview
2CRELD1-M13Vhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
2CRELD1-R329Chet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
2ERCC6-Q1413Rhomozygous0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
2ERCC6-R1213Ghomozygous0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
2ERCC6-M1097Vhomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
2RET-R982Chet unknown0.016Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.885 (probably damaging), Testable gene in GeneTests with associated GeneReview
2APOB-A4481Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5TLR4-D299Ghet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1.5TLR4-T399Ihet unknown0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1.5FCGR2B-I232Thet unknown0.133Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5APOA5-S19Whet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-I493Thomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
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
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NVL-V404Ihomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PALB2-L337Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.761 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1OPN1LW-L153Mhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGFB1-T263Ihet unknown0.021Dominant
protective
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYO5B-M1688Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-L1055LLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027251-H75ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WFS1-R456Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEPT9-P145Lhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1FAM151A-G546Dhet unknown0.032Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.625 (possibly damaging)
1FAM151A-G526Ahet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG8-R268Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL6A3-D2831Hhomozygous0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7B-H1207Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG1L2-L157ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MYOC-R76Khomozygous0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1TSEN54-I137Lhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-P483Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-S75Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-Q198Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
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
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75SDHC-Q147*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75SDHC-L148Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-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
0.5PER1-P859Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH2-T3600Ihomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-P4325Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYH13-D1614Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5MYH13-M1071Vhet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5PLA2G4E-N371Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ESRRB-P386Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.069 (benign), Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AVEN-E243Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5UBE3A-A201Thet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO5C-R172Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF764-A332Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.831 (possibly damaging)
0.5ZNF764-R52Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ERCC4-R415Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5AGBL1-R112Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5AGBL1-Q1010Rhomozygous0.890Unknown
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
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CALML4-T154Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5CALML4-R40*het unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5NOB1-Y366Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging)
0.5NOB1-R231Qhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5NR2E3-E140Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-M163Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5ARHGAP17-R510Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5DSC3-A28Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-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)
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5SRD5A2-L88Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRD5A2-A48Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-Y54Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF530-T64Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.827 (possibly damaging)
0.5ZNF530-H110Qhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-T169Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEACAM20-C512Rhet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEACAM20-D484Shifthomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CEACAM20-Y470Chet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEACAM20-S355Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DHDH-D38Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUP62-S283Thet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUP62-G218Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUP62-G139Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
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
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5SCN7A-R1634Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5SCN7A-M958Ihomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN7A-T41Nhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5YSK4-E812Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5YSK4-E676Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5RANBP2-D77Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RANBP2-D2031Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R20Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-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
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P50Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA9-K1306Thet unknown0.474Unknown
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
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEZ6-R523Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SEZ6-P48Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EFCAB5-L237Vhet unknown0.463Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB5-I278Khomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB5-A1120Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5KRT10-G565GGYGGGSSSGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-G476GYGGGSSGGGYGGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRTAP4-5-H132CVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRTAP4-5-S128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRTAP4-5-I127Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRTAP4-5-C81CRPSCChet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LAMA1-A1763Vhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-D1682Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.656 (possibly damaging)
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZSWIM4-M616Vhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5ZSWIM4-T629Mhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.5ZSWIM4-N710Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FCGBP-P4788Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-P1436Lhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.325 (possibly damaging)
0.5FCGBP-N770Shet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PNPLA6-G1322Shet unknown0.006Unknown
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
0.5TTR-G26Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5ALPK2-I2157Vhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-A1551Shet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5ALPK2-P1449Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5ALPK2-Q1428Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALPK2-H1174Phomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5ALPK2-EDTST1006Delhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-N916Khet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K829Nhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5ALPK2-R825Thet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-G810Shet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ALPK2-H719Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.5ALPK2-T397Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5ALPK2-R136Shomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K2Thomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VSX2-D291Nhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CUBN-N3042Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
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-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RBP3-R346Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5ECHDC3-A69Thomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-D162Nhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-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-I1665Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX1-H139Rhomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SMPD1-R291Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMPD1-G508Rhomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICALCL-V70Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-A305Thomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-S313Ghet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5MICALCL-T471Phet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.331 (possibly damaging)
0.5MICALCL-R671Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ADRB1-S49Ghet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPS1-G283Whet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5DNMBP-C1413Whet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.566 (possibly damaging)
0.5DNMBP-M831Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.987 (probably damaging)
0.5KAZALD1-G236Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging)
0.5KAZALD1-G255Ahet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5NAV1-S1270Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LEPRE1-M549Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA6-E228Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-R3632Qhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-I3413Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A3168Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-S2995Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-L2980Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-G2225Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V1967Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-R422Whet unknown0.003Unknown
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
0.5NM_201628-T469Mhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5NM_201628-A706Thet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R347Whet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CROCC-A439Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-S499Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-D586Hhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XCL2-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)
0.5NCF2-K181Rhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5S100A7A-R23Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TDRKH-G257Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging)
0.5CASQ2-T66Ahomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BDNF-V148Mhomozygous0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNFSF11-P36Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N14094Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARL11-G65Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARL11-C148Rhomozygous0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.153 (benign)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM132C-V160Ihomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-V332Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-T618Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM132C-G698Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RASAL1-R321Hhet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DDX54-P822Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5DDX54-G6Rhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-G292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLN5-N242Khet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-R1393Whet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-Q3612Rhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests
0.5SYNE2-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), 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)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5FBXO34-I470Nhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBXO34-L533Phet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBXO34-G704Vhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K434Nhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shomozygous0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KRT1-A454Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCIRG1-V558Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2CD3-R1219Qhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C2CD3-P773Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging)
0.5C2CD3-H240Dhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-S707Phet unknown0.008Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-S978Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5SSH3-R600Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5RIN1-R238Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EXPH5-N1967Dhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-G1663Rhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-L853Phet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-S676Nhomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-V525Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-R328Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXPH5-R19Ghet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5HEBP1-E183Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWF-G2705Rhomozygous0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SC5DL-R214Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5ROBO3-A1062Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ROBO3-RS1367Delhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WNK1-T665Ihet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GTF2E1-P366Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WWC2-R979Chet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPRIN3-V446Ahet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN3-P390Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5GPRIN3-L39Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-V253Ihomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5LRRN3-D24Ghet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), 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-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-P998Lhomozygous0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-S400Nhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhomozygous0.118Unknown
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
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKD1L1-P1278Qhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5PKD1L1-K1272Ehet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKD1L1-R1053Phet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKD1L1-F988Lhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.863 (probably damaging)
0.5PKD1L1-V312Fhet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5HYAL4-M1Vhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5ABCG2-Q141Khet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.5HTT-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYTL1-R136Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5EVC2-S1046Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests
0.5EVC2-T699Ahet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5EVC2-M577Thet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5TNK2-R1086Hhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TNK2-KPPSSA774TPPSSThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC50-L121Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CASR-T445Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
0.5COL6A5-E455Khomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-D982Ghomozygous0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5COL6A5-I1114Mhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.5COL6A5-S1539Thet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-Q2050*het unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL6A5-Q2188Rhomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5COL6A5-G2205Dhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FOXL2-A179Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FOXL2-F160Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSR1-P275Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MOCS1-R452Lhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MOCS1-P390Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5ENAM-V466Ihet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENAM-I648Thet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENAM-R763Qhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDS1-L99Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLNK-P31Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OR2F1-R122Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5OR2F1-H137Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.179 (benign)
0.5ZYX-R489Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
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
0.5EPB41L4A-R630Hhet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPB41L4A-R587Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EPB41L4A-N532Shet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPB41L4A-Y495Hhet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPB41L4A-S366Thet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C2-L83Phet unknown0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C2-G25Dhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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)
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-V497Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFP57-D368Vhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-R8735Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-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
0.5SYNE1-K3874Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5PEX3-Q82Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HIVEP2-L1538Phomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HIVEP2-Y1242Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5EYS-S2556Chet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-R2326Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-N1902Ihomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-T120Mhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5KIF6-W719Rhomozygous0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KIF6-R551Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PEX6-P939Qhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
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-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENPP5-I171Vhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.139 (benign)
0.5ENPP5-R39Phet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ENPP5-L6Ihet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5YIPF3-A5Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWDE-F1485Chomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUDT1-V106Mhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
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-S3765Phet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF474-R95Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5FBN2-S2580Lhet unknown0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5FRMD1-H383Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.742 (possibly damaging)
0.5FRMD1-G150Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
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
0.5F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V651Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALDH5A1-H180Yhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH3-Q521Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5RSPH3-G518Dhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RSPH3-R461Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RSPH3-M439Thet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5RSPH3-R213Qhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5RSPH3-N201Shet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.89 (probably damaging)
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-M3631Ihet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-A2907Thet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-G1515Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-V1462Mhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-P248Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STX16-R148Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.622 (possibly damaging), Testable gene in GeneTests
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
0.5SETX-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
0.5POMT1-D411Ehet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFV3-R200*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NDUFV3-D415Nhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DNAI1-A8Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhomozygous0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5KIAA1671-R644Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTF1-A885Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABHD12-A349Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.453 (possibly damaging)
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BMPR2-S775Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPHN1-V39Ihet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
0.5ARR3-S299Chet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAGEE2-E120*het unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CD99-M166Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.194 (benign)
0.5CD99-N173Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FARP2-S896Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-D1734Ehet unknownUnknown
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-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghet unknown0.650Unknown
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-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Qhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRMU-E405Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRMU-S410Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GSDMC-M475Thet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-A829Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5SUMF1-S63Nhomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5MATN2-T187Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.899 (probably damaging)
0.5MATN2-K356Ehomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MATN2-A599Thet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.747 (possibly damaging)
0.5MATN2-T855Mhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.5DNAH1-V177Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH1-V441Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH1-R1285Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH1-R3744Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH1-G3801Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH1-H3832Rhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-V1058Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5SLC9A10-M844Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-G826Shet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5SLC9A10-S768Ihet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.735 (possibly damaging)
0.5SLC9A10-Q732Khomozygous0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SLC9A10-T424Ahet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.5SLC9A10-I364Vhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I348Mhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I286Vhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I158Vhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGH-T151Ihet unknown0.083Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thomozygous0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhomozygous0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375BRCA1-M1673Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CLCNKB-A472Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-R146Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.375HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.375HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.375USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375USH1C-E96Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATP6V0A4-P252Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ALG6-L455Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NPHS1-R369Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25PHYH-P29Shet unknown0.155Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25PHYH-RP19PShet unknownUnknown
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
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-T671Ahet unknown0.246Unknown
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
0.25SERAC1-A609Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SERAC1-S608Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UBA1-R447Hhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), 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
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-T49Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC16A2-S107Phet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-T43Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F405Lhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L828Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1010Rhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R1011Qhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N1099Yhet unknown0.804Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-M1110Ihomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1925Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH14-N2435Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R2911Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-E3232Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-N3969Khet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L4096Phomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F4244Chomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K4375Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
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
0.25LMNA-M174Thet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25PRG4-D1123Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
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
0.25CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-E289Qhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25RBMXL2-T134Ahomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25RBMXL2-S167Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UBQLN3-R624Qhet unknown0.284Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.562 (possibly damaging)
0.25UBQLN3-M546Thet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25UBQLN3-R82*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25C10orf93-S264Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf93-Q7*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NRAP-R1566Chet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-A674Vhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Q360Rhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-V208Ahet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PEX2-C184Rhet unknown0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAP4K2-QLP276HQThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAP4K2-E40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DCLRE1C-H243Rhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.767 (possibly damaging), Testable gene in GeneTests
0.25DCLRE1C-G153Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DLGAP2-P39Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DLGAP2-KS379NPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MOCOS-T170Ihomozygous0.911Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-S184Ghomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-H225Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25MOCOS-V358Mhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOCOS-A510Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL7A1-P595Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MST1-V575LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-S565GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-E202VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-Y184HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25SNAPC2-L118Vhomozygous0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNAPC2-Q267Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NFATC1-P55Thet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NFATC1-S706Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM83F-C8Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM83F-R436Ghet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.939 (probably damaging)
0.25RNF213-S407Nhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF213-G656Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25IQCB1-I393Nhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.067 (benign), Testable gene in GeneTests
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25DNAH8-I573Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH8-G807Ehet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH8-E1202Khet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH8-Y2501Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP2-4-W94*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KRTAP2-4-L10Fhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
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
0.25NWD1-A83Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NWD1-T428Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NWD1-L634Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NWD1-N791Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25SPEG-Q496*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SPEG-L2120Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPEG-S2448Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPEG-P2687Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPEG-R2790Ghet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPEG-H3079Rhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-I2070Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V1B1-M1Thet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NR_027433-R163Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_027433-A156Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-A2872Thomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-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
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.25ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMPRSS3-I253Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF628-A225Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF628-PQ237ARhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THADA-C1605Yhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.25THADA-T1187Ahet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZSWIM1-W9*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZSWIM1-R284Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-W511Rhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably 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
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IRS2-G1057Dhet unknown0.233Unknown
protective
Low clinical importance,
uncertain
a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAD2-G235Rhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25ADAD2-V405Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OXA1L-A54Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OXA1L-A104Vhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OXA1L-V151Ihet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-Q256Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-Q253Hhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-R252Hhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-A245Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITGA7-L860Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA7-R655Hhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S408Ahet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A4-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
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NSUN7-S308Ahomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NSUN7-K650Ehomozygous0.909Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NSUN7-R716*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-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-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-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L1255Fhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G785Chomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R636Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-I506Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-L173Shet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K77Nhet unknown0.272Unknown
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
0.25LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
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)
0.25FAM184B-V1042Ahomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM184B-E887Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM184B-P793Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM184B-R784Whet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM184B-R643Hhet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CSPG4-R2096Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CSPG4-R1703Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25CSPG4-P407Lhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.813 (possibly damaging)
0.25CSPG4-R164Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25C14orf73-R77Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf73-D93Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf73-L185Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSHR-E727Dhet unknown0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCDC110-Q669Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.25CCDC110-I614Mhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC110-F508Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC110-E507Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC110-Y500Dhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC110-S409Fhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC110-L299Mhet unknown0.484Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC110-P209Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0RYR2-G1886Shet unknown0.061Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0FLNA-A1188Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0CCR5-S185Shifthet unknown0.048Recessive
protective
Insufficiently evaluatedPrioritization score: 2
Frameshift
0GPT-N152Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0FANCE-V311Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,704,446,222 bases (95.5% of callable positions, 89.5% of total positions)

Coding region coverage: 31,100,148 bases (93.6% of all genes, 94.5% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in