hu101457 - GET-Evidence variant report

Variant report for hu101457

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PEX2-W250RHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00799405Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving defects in peroxisomes.1
2PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
3C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
4STRC-Q1353XModerateUncertainUncertain pathogenic

Dominant, Heterozygous
Reported by ClinVar to cause deafness in a dominant manner (https://www.ncbi.nlm.nih.gov/clinvar/variation/236066/). In ClinVar this variant is reported as a "pathogenic" cause of this disease by a single source, the Laboratory of Prof. Karen Avraham,Tel Aviv University. This submission does not reference any published literature. This variant is rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/15-43896918-G-A).1
5OPTN-M98KModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0613497This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.1
6SERPINA1-E288VLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0304889This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.1
7MTRR-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
8COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
9PRF1-A91VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0325339This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.1
10RPGRIP1L-A229TLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0561443This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.1
11SCNN1G-E197KLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00641383May cause slight increased risk of rare, CFTR-like disease.1
12TERT-H412YLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00267533Hypothesized to cause increased risk of aplastic anemia, but no statistically significant data (this implies that if this variant causes increased risk, it is likely quite small -- too small to produce a significant enrichment).1
13TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
14RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
15POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
16TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
17ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
18BRCA2-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
19H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
20SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
21rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
22CCR5-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
23IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
24KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
25OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
26CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
27NEFL-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
28COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
29MLH1-I219VLowUncertainUncertain benign

Dominant, Homozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
30COL5A2-P460SLowUncertainUncertain benign

Unknown, Heterozygous
0.0400632Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.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
32GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
33FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
34APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
35PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
36PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
37THBD-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
38SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
39ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
40TXNDC3-I338TLowUncertainUncertain benign

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

Exome coverage: 31493028 / 33282720 = 94.62%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2544802867383545766138955553-955753, 957581-957649, 957664-957842, 970657-970704, 976045-976139, 976153-976260, 976553-976735, 976758-976759, 976774, 976777, 976858-976925, 976936-976941, 976955-976963, 976979, 976982-977015, 977028, 977043-977082, 977378-977387, 977392, 977425-977535, 978619, 978623-978625, 978630, 978636, 978652-978684, 978687-978811, 978824-978837, 978918-978961, 978983-979025, 979041-979112, 979203-979219, 979247, 979271-979315, 979345, 979352-979400, 979489-979551, 979554-979555, 979568, 979582, 979593-979636, 979733, 979744, 979753-979760, 979772-979775, 979796, 979806-979816, 980543-980631, 980654, 980657, 980742-980815, 980821, 980838, 980872-980903, 981113-981120, 981148-981223, 981238-981256, 981344, 981347, 981354-981410, 981437-981468, 981540-981617, 981642-981645, 981777-982000, 982008-982015, 982024-982079, 982089-982091, 982200-982288, 982337, 982707-982752, 982761-982819, 982953-983000, 983009-983045, 983063-983067, 983156-983218, 983233-983275, 983392-983462, 983470-983543, 983563-983745, 984247-984439, 984616-984771, 984778-984831, 984946-984972, 984992, 985005-985027, 985045-985071, 985078-985174, 985297-985311, 985318-985328, 985331, 985334, 985338, 985356-985378, 985620-985656, 985670-985698, 985704, 985707, 985829, 985844-985855, 985875-985899, 985907-985968, 986134-986213, 986633-986672, 986681-986749, 986833-986918, 986934-986938, 986949-986950, 986973, 986987-987004, 987108-987123, 987135-987136, 987176-987195, 989133-989150, 989195-989225, 989237, 989241-989262, 989269-989270, 989291-989292, 989295, 989298-989307, 989314-989315, 989330-989357, 989828-989853, 990221-990270, 990280, 990312-990316
2GABRD10.7314201618837436513591950863-1950930, 1956412, 1956435-1956436, 1956811, 1957005-1957040, 1957116-1957129, 1957147-1957169, 1959669, 1959711-1959731, 1960550-1960574, 1960591-1960594, 1960606-1960640, 1960674, 1960705, 1961007-1961039, 1961052, 1961058, 1961069, 1961078, 1961087, 1961194-1961201, 1961422-1961426, 1961448, 1961462, 1961469, 1961498-1961516, 1961610-1961654, 1961706-1961708, 1961711-1961721
3PEX1010.860346585117231379812337925-2337938, 2338045, 2338256, 2338259, 2338263, 2338298-2338304, 2339984, 2339991, 2340007-2340010, 2340016-2340021, 2340036-2340038, 2343830-2343925, 2343940
4NPHP410.9404344779257225542815927127-5927128, 5934952, 5934955, 5935107-5935112, 5935151-5935159, 5937247-5937260, 6027378, 6029229-6029235, 6038330-6038473, 6046215-6046240, 6046250-6046277, 6046281, 6046285, 6046292, 6046313, 6046322-6046333
5ESPN10.8908382066276828025656485023-6485026, 6485032-6485083, 6485109-6485111, 6485119, 6485131, 6485134, 6485137-6485145, 6485169-6485170, 6485199-6485202, 6485207-6485214, 6485274-6485287, 6488301-6488304, 6488322, 6488325, 6488333, 6488377-6488385, 6488426-6488432, 6488463-6488479, 6500386-6500419, 6500449-6500488, 6500686-6500692, 6500795, 6500837-6500868, 6505851-6505855, 6508882-6508888, 6508922-6508928, 6509057, 6512127-6512133
6PLEKHG510.99341486359362131896529183-6529185, 6534521-6534522, 6534528-6534534, 6534642, 6535531-6535533, 6556578, 6557380-6557383
7PEX1410.668430335097376113410659315-10659344, 10659353, 10678451-10678460, 10683076-10683112, 10683145-10683146, 10683151, 10683164-10683178, 10684405-10684494, 10687329-10687371, 10687395-10687420, 10689588-10689592, 10689597, 10689676-10689694, 10689719-10689730, 10689754, 10689761, 10689792, 10689795, 10689810, 10689848-10689877, 10689897-10689936, 10690004-10690010, 10690032, 10690042
8TARDBP10.9397590361445875124511076941-11076946, 11078869-11078875, 11082229, 11082261, 11082322-11082362, 11082530, 11082555-11082572
9MASP210.481319747695291069206111086962, 11087054, 11087125-11087154, 11087231-11087234, 11087246-11087247, 11087259-11087260, 11087291-11087292, 11087335, 11087358-11087397, 11087489, 11087499, 11087510, 11087524, 11087595-11087603, 11087609, 11090233-11090270, 11090805-11090859, 11090873, 11090902-11090906, 11090911-11090919, 11090924, 11094885, 11094906-11094955, 11097750-11097810, 11097813, 11097831-11097868, 11102932-11103079, 11103402-11103472, 11103496-11103592, 11105465-11105478, 11105486, 11105498-11105536, 11105542, 11105565-11105596, 11106613-11106627, 11106648-11106684, 11106694-11106695, 11106705-11106741, 11106759-11106790, 11106948-11106984, 11106994-11107006, 11107012-11107023, 11107032-11107045, 11107059-11107125, 11107133-11107145, 11107152-11107176, 11107260-11107264
10PLOD110.79120879120879456218411994842, 11994886, 11994896-11994901, 12008048-12008050, 12008110-12008121, 12009859, 12009899-12009903, 12010490, 12012764-12012768, 12012773-12012774, 12012779-12012781, 12014887-12014888, 12014913, 12018604, 12020793-12020798, 12023594, 12023661-12023679, 12023691-12023693, 12024285-12024292, 12024303-12024319, 12024325-12024356, 12024706, 12024711-12024716, 12024757-12024789, 12024793, 12024809-12024832, 12025537-12025553, 12025581-12025600, 12025619-12025634, 12026308-12026340, 12026351-12026373, 12027123-12027148, 12030727-12030732, 12030749-12030806, 12030812-12030834, 12030851-12030873, 12034723-12034729, 12034781-12034789
11CLCNKA10.92829457364341148206416349191-16349197, 16354394, 16355307, 16355313-16355315, 16355661, 16355666, 16356977-16356983, 16357052-16357068, 16357118-16357150, 16357161, 16358206, 16358291-16358318, 16358698-16358715, 16358735, 16358738, 16359708, 16360106-16360115, 16360138-16360153
12CLCNKB10.82994186046512351206416373030-16373051, 16373121, 16373124, 16374448, 16376191, 16377011-16377046, 16377370-16377381, 16377470-16377474, 16377478-16377480, 16378242-16378279, 16378303-16378315, 16378693-16378714, 16378717, 16378739-16378782, 16378789-16378795, 16378842, 16378852, 16380144-16380145, 16380152-16380153, 16380161-16380162, 16380196, 16380203-16380216, 16380233-16380256, 16381930-16381949, 16381997-16381998, 16382001-16382008, 16382170-16382196, 16382216-16382224, 16382227-16382228, 16382231-16382235, 16382995-16383001, 16383364-16383373, 16383399-16383405
13ATP13A210.981371718882366354317312743, 17313378-17313381, 17313587-17313625, 17314942, 17314946-17314949, 17319011, 17326784-17326789, 17338224-17338233
14ALDH4A110.78073286052009371169219199359, 19199362-19199383, 19201956, 19202923-19202929, 19203713-19203717, 19205866, 19208194-19208252, 19208258-19208303, 19208377-19208378, 19209618-19209635, 19209639-19209644, 19209648, 19209658-19209692, 19209773, 19209808-19209815, 19209835-19209861, 19209873-19209903, 19211990-19211996, 19212958-19212984, 19212988-19212991, 19212996-19213003, 19215864-19215900, 19216514, 19216568-19216572, 19216581-19216591
15ALPL10.999365079365081157521900206
16HSPG210.976320582877963121317622149841-22149842, 22151053-22151054, 22151265-22151267, 22154625-22154639, 22154786, 22155398-22155399, 22155443, 22155507, 22159079, 22159086-22159093, 22165419, 22172634-22172637, 22175487-22175512, 22181417-22181430, 22181440, 22186059-22186070, 22186140, 22186391-22186393, 22186725-22186726, 22188250-22188252, 22188260-22188262, 22191387, 22191454, 22191517, 22191554, 22191814-22191821, 22192221-22192225, 22192228, 22192231, 22192257, 22199130-22199153, 22199179, 22199186-22199193, 22199202-22199203, 22199490-22199531, 22206706, 22206743-22206746, 22207040, 22207043, 22207951, 22207961-22207962, 22211091, 22211104, 22211349-22211356, 22211628, 22211636-22211640, 22211909-22211912, 22213924-22213926, 22214127, 22216924-22216928, 22217145-22217151, 22263648-22263710
17WNT410.9242424242424280105622456154, 22456190-22456191, 22469339-22469415
18RPL1110.932960893854753653724019099-24019120, 24019162, 24019235-24019236, 24019247-24019249, 24020300, 24020350-24020356
19GALE10.996179560649474104724122664, 24123387-24123388, 24124257
20HMGCL10.99897750511247197824134721
21FUCA110.9942897930058140124180879, 24194454, 24194698-24194701, 24194709, 24194758
22LDLRAP110.923408845738947192725870199, 25870205-25870207, 25870223-25870224, 25870237-25870238, 25870243-25870250, 25870257-25870277, 25881405, 25881456, 25893422-25893451, 25893480-25893481
23SEPN110.89028776978417183166826126722-26126904
24YARS10.9911783238815414158733251989-33251995, 33252588-33252594
25GJB410.99126092384519780135226880-35226886
26GJB310.99138991389914781335250790-35250796
27ZMPSTE2410.999299719887961142840747111
28KCNQ410.9564176245210791208841249790-41249793, 41249811-41249815, 41249857-41249892, 41249930-41249948, 41249987-41249991, 41250015-41250029, 41284329-41284335
29LEPRE110.999095431931252221143232397-43232398
30SLC2A110.997971602434083147943408910-43408911, 43408916
31EIF2B310.997056659308314135945316623, 45323448-45323450
32MMACHC10.99882214369847184945973928
33POMGNT110.9873928391326325198346660229-46660231, 46660244, 46661541, 46661552, 46661745, 46662721-46662737, 46663443
34STIL10.9808637186449474386747717269, 47725995-47726001, 47726051, 47726091, 47726105, 47728610-47728612, 47735327-47735329, 47735333-47735355, 47735423-47735436, 47735478-47735490, 47735525, 47737863-47737868
35ORC110.99845320959014258652838897, 52838900, 52854224, 52854229
36DHCR2410.99935525467441155155352605
37PCSK910.86820586820587274207955512231-55512237, 55518021, 55518037, 55518040, 55518055, 55521666-55521676, 55521700-55521725, 55521734, 55521740-55521744, 55521748, 55521752-55521771, 55521795-55521857, 55523033, 55523048-55523050, 55523128-55523167, 55523779-55523789, 55523801, 55523876-55523878, 55524197-55524204, 55524232-55524234, 55524267-55524282, 55525243-55525259, 55525293-55525312, 55527070, 55527167, 55527224-55527229, 55529156-55529160
38LEPR10.9808461978273367349866058440-66058441, 66058463, 66062228, 66067567, 66070892, 66070919-66070920, 66074491-66074493, 66081753-66081772, 66083711-66083739, 66085611-66085617
39GLMN10.997759103641464178592733686-92733689
40ABCA410.998827323365588682294496577, 94497389, 94497539-94497540, 94505677, 94505680, 94508350, 94528182
41DPYD10.99902534113063307898144652-98144653, 98348821
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44GSTM110.955859969558629657110230506-110230507, 110230835-110230839, 110235874-110235891, 110235914-110235917
45HSD3B210.98748882931189141119119965130-119965136, 119965218-119965224
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49TPM310.990675990675998858154164393-154164400
50CHRNB210.879390324718361821509154542051, 154542064, 154542824-154542829, 154543672, 154543675, 154543821-154543826, 154543831-154543833, 154543954-154543966, 154543972, 154543976, 154543979, 154544023-154544033, 154544049, 154544089-154544137, 154544184-154544192, 154544217-154544218, 154544334, 154544352-154544353, 154544368, 154544381-154544408, 154544428-154544432, 154544568-154544571, 154548243, 154548347-154548379
51GBA10.96741854636591391197155184367, 155184381, 155184413-155184419, 155184918-155184925, 155185354, 155186652-155186658, 155187141-155187147, 155188179-155188185
52LMNA10.991181657848325567156104989, 156104996, 156105004-156105005, 156105048
53LMNA10.99348370927318131995156104737-156104738, 156104741, 156104989, 156104996, 156105004-156105005, 156105048, 156107520, 156108433, 156108879, 156108896-156108897
54SEMA4A10.9995625546806612286156131162
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56SDHC10.986274509803927510161326610-161326616
57TBX1910.999257609502611347168260479
58SLC19A210.9979919678714931494169454958-169454960
59F510.99535580524345316675169509554, 169509557, 169510337-169510357, 169510475, 169551678-169551684
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61DARS210.9994840041279711938173794471
62SERPINC110.9985663082437321395173878916-173878917
63CFH10.9997294372294413696196658734
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65CFHR510.9994152046783611710196967367
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67CRB110.998341625207374221197298123-197298129
68CACNA1S10.99644254713625205622201030466, 201031177-201031188, 201052436-201052438, 201058568-201058571
69TNNT210.952702702702742888201336915-201336934, 201337309-201337315, 201338956-201338966, 201342352, 201342358-201342360
70REN10.99508599508661221204135354, 204135375-204135377, 204135408-204135409
71CD4610.98333333333333201200207930362-207930368, 207930451-207930463
72USH2A10.9869306169517620415609215802250, 215807837, 215853665-215853671, 215914717-215914718, 215914721-215914736, 215914744-215914753, 215914762, 215914766-215914767, 215914848-215914876, 215916529-215916606, 215916627-215916637, 215916660-215916677, 215931937-215931938, 216172246-216172270, 216496840
73PSEN210.97995545657016271347227069742-227069743, 227071416, 227071436-227071439, 227071525, 227071565-227071567, 227071570-227071571, 227071598-227071611
74ADCK310.9953703703703791944227152885, 227152903, 227169792-227169797, 227174314
75GJC210.511363636363646451320228345460-228345461, 228345538, 228345571, 228345579, 228345610, 228345635-228345667, 228345707-228345728, 228345754-228345760, 228345764-228345770, 228345780, 228345785, 228345795, 228345819, 228345885, 228345888, 228345908-228345937, 228345957-228346068, 228346091-228346137, 228346142-228346144, 228346192-228346223, 228346232, 228346238-228346248, 228346295-228346401, 228346407-228346502, 228346522-228346528, 228346538-228346588, 228346608-228346614, 228346618-228346620, 228346631, 228346647-228346650, 228346676-228346693, 228346707-228346708, 228346711-228346731, 228346740, 228346744, 228346750, 228346759, 228346773-228346779
76ACTA110.9982363315696621134229567869, 229567921
77LYST10.99947396107312611406235840826, 235896879-235896882, 235972432
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79MTR10.985119047619055336236976111, 236979826, 236979830, 236979836, 236990196
80MTR10.968667719852551193798236972032, 236976111, 236979826, 236979830, 236979836, 236988638-236988647, 236990196, 236992517, 236992561, 236992566, 236995286-236995292, 236995368, 236995372, 237001723, 237001732, 237001811, 237023183, 237023221, 237037082-237037098, 237038026-237038029, 237044102-237044126, 237048465-237048470, 237048510-237048516, 237049594, 237052563, 237054549, 237060342-237060361, 237060883, 237060942-237060944
81RYR210.997987117552333014904237729903, 237801703-237801730, 237811827
82IL2RA100.91575091575092698196054842-6054859, 6063474-6063479, 6063545-6063546, 6067908-6067950
83OPTN100.9907727797001216173413151249-13151264
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85PTF1A100.985815602836881498723481765-23481768, 23481864-23481866, 23481937-23481943
86MYO3A100.97299525870954131485126377160-26377162, 26377294-26377305, 26385310-26385312, 26385315-26385318, 26409642, 26409725, 26417320-26417322, 26462607, 26462656-26462687, 26462760, 26463266-26463301, 26463380-26463413
87PDSS1100.8974358974359128124827024221-27024249, 27024504, 27024507-27024508, 27031489-27031506, 27035262-27035274, 27035294-27035313, 27035328-27035353, 27035382-27035389, 27035392-27035402
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89RET100.91898355754858271334543572707-43572779, 43595917-43595921, 43595954-43595958, 43595966-43595970, 43596053-43596093, 43596111-43596148, 43596162-43596170, 43597832, 43597942-43597954, 43598003-43598004, 43598050-43598052, 43598056, 43600519-43600521, 43600570, 43600576-43600578, 43600590-43600601, 43601993, 43606823, 43608375, 43609982, 43610151, 43610159, 43614985-43615007, 43615021-43615028, 43617444-43617449, 43619236-43619248
90ERCC6100.994645247657324448250740807-50740809, 50740819-50740839
91CHAT100.9635068980863482224750822275, 50822279-50822282, 50822309-50822338, 50822344-50822383, 50822427-50822433
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93EGR2100.99790356394133143164573027-64573029
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95PRF1100.998800959232612166872358253-72358254
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98PSAP100.994285714285719157573579547-73579555
99VCL100.9906020558002932340575802841-75802872
100RGR100.9954954954955488886017658, 86017668, 86017671, 86017676
101LDB3100.81043956043956414218488466288-88466297, 88466309-88466383, 88466396-88466442, 88469662-88469663, 88469691, 88469710-88469712, 88469776-88469807, 88476084-88476111, 88476127, 88476135-88476158, 88476185-88476193, 88476196-88476198, 88476216-88476223, 88476245, 88476249-88476255, 88476272-88476295, 88476338-88476358, 88476368, 88476442-88476472, 88476512-88476514, 88476522, 88477726, 88477736-88477742, 88477747-88477767, 88477811, 88477831-88477837, 88478503, 88478540-88478581, 88492732-88492733
102BMPR1A100.80737961225766308159988635779, 88635785-88635787, 88635797, 88635836, 88649819-88649825, 88649854-88649866, 88649870, 88649899-88649981, 88651884-88651913, 88651942-88651986, 88659551-88659555, 88659588-88659592, 88659597-88659600, 88659605-88659618, 88659795-88659797, 88659830-88659850, 88659872-88659883, 88672064, 88672075, 88672116, 88672127-88672132, 88681380-88681388, 88683133-88683149, 88683416-88683439
103GLUD1100.9910554561717415167788820789, 88854462, 88854476-88854478, 88854487-88854496
104PTEN100.995874587458755121289624291-89624294, 89720651
105ACTA2100.992063492063499113490707124-90707132
106PDE6C100.998447807528134257795399936-95399939
107PLCE1100.9869735128093890690996005832-96005833, 96005837, 96005871, 96005874, 96005878, 96005888, 96006016, 96006310, 96073011-96073025, 96073046, 96073102-96073103, 96076307-96076334, 96076350, 96076357-96076373, 96076387-96076394, 96076430, 96081809-96081816
108HPS1100.9995251661918312106100189600
109ABCC2100.9969814575248144638101563923-101563925, 101601849, 101605474-101605480, 101605485-101605487
110PAX2100.9992301770592811299102568983
111FBXW4100.9991928974979811239103454300
112SUFU100.9938144329896991455104263994-104264002
113SHOC2100.9994282447112611749112724215
114HABP2100.943820224719130534115334048-115334051, 115334121-115334127, 115336909-115336918, 115336989, 115337897-115337904
115HABP2100.939393939393941021683115327261, 115334048-115334051, 115334121-115334127, 115336909-115336918, 115336989, 115337897-115337904, 115338494-115338498, 115338535-115338536, 115341635, 115341717-115341724, 115341805-115341806, 115341832, 115341836-115341875, 115343033-115343041, 115343056, 115343986, 115345643
116HTRA1100.95010395010395721443124221169-124221184, 124221187-124221213, 124221217-124221218, 124221224-124221227, 124221229-124221233, 124221239-124221241, 124221246, 124221297-124221303, 124221371-124221375, 124221514-124221515
117UROS100.987468671679210798127477439, 127477442, 127484672-127484679
118HRAS110.9596491228070223570532700, 532703-532714, 532751-532753, 534290-534296
119TALDO1110.92998027613412711014747485-747497, 747532, 747549-747552, 763344-763352, 763383-763421, 763877, 764429, 764432-764433, 764825
120SLC25A22110.57407407407407414972791932-791944, 791980-792009, 792178-792205, 792350-792374, 792391, 792400-792403, 792430-792458, 792553-792623, 792634, 792643, 792649, 792675-792727, 792881-792942, 792951-792953, 792960-792985, 793593, 794476, 794508-794510, 794776-794806, 794836-794849, 794899, 794992-795006
121PNPLA2110.304290429042910541515819719-819769, 819780-819905, 821628-821755, 821802-821833, 821857, 821987-822023, 822404-822428, 822442-822479, 822485-822498, 822501, 822527-822540, 822557, 822593-822606, 823527-823587, 823721-823766, 823781-823798, 823803, 823809, 823998-824044, 824065-824085, 824091-824108, 824119-824128, 824314-824315, 824326-824332, 824348, 824365-824372, 824396-824436, 824523-824582, 824588-824618, 824637-824770, 824790-824811, 824820-824862
122CTSD110.6973365617433437512391774733-1774755, 1774798-1774812, 1774884-1774900, 1775033-1775049, 1775251-1775322, 1775342-1775363, 1778570-1778573, 1778597-1778624, 1778720-1778729, 1778785-1778786, 1780205-1780216, 1780242-1780255, 1780288-1780317, 1780760-1780777, 1780790, 1780805-1780815, 1780869, 1782544-1782546, 1782651-1782657, 1785022-1785089
123TNNI2110.670309653916211815491861459-1861468, 1861633-1861634, 1861646, 1861761-1861801, 1861819-1861872, 1862080-1862105, 1862261-1862264, 1862330-1862369, 1862686-1862687, 1862726
124TNNT3110.229086229086235997771946329-1946331, 1947925-1947939, 1950350-1950359, 1950368-1950373, 1951040-1951058, 1953711-1953714, 1953738-1953744, 1954951-1954985, 1954993-1955012, 1955026-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955803, 1955826-1955835, 1955856-1955885, 1956059-1956135, 1956145-1956149, 1958193-1958233, 1959668-1959722
125H19110.99346405228758710712017531-2017537
126IGF2110.818565400843881297112154223-2154224, 2154236-2154237, 2154241-2154242, 2154273, 2154328-2154351, 2154371, 2154378-2154380, 2154401, 2154411-2154426, 2154432-2154444, 2154796-2154810, 2154817-2154818, 2156685-2156729, 2161373, 2161376
127TH110.7758730158730235315752185496-2185528, 2185561, 2185612, 2185615, 2186462-2186463, 2186471, 2186474-2186475, 2186507, 2186511, 2186537-2186582, 2186898-2186904, 2186922-2186928, 2186945-2186950, 2187242, 2187264-2187276, 2187710-2187779, 2187863-2187875, 2187889-2187904, 2187930-2187935, 2187971, 2187974-2187975, 2187984-2187998, 2188213, 2188225, 2188241-2188257, 2189150, 2189160-2189161, 2189737, 2189818, 2189834, 2189842, 2190924-2190947, 2190951, 2191018-2191019, 2191023, 2191026-2191027, 2191030-2191032, 2191920-2191967
128KCNQ1110.7405219103889752720312466329-2466420, 2466433-2466675, 2466706-2466709, 2591858-2591936, 2591942-2591948, 2592555-2592578, 2592585-2592629, 2593257, 2593283-2593285, 2593296-2593298, 2593301, 2593311-2593329, 2594125-2594129, 2594199
129CDKN1C110.259726603575187049512905313, 2905322-2905324, 2905900-2906292, 2906307-2906432, 2906439-2906574, 2906598-2906603, 2906614-2906616, 2906646-2906681
130SMPD1110.99683544303797618966411936-6411941
131SBF2110.996936936936941755509917490-9917496, 10011044-10011053
132PTH110.97701149425287834813514204-13514211
133ABCC8110.999367888748423474617449898-17449900
134USH1C110.9892592592592629270017517202-17517217, 17531245-17531252, 17531283-17531285, 17548793, 17548833
135PAX6110.995271867612296126931811482-31811487
136WT1110.9433719433719488155432417803-32417815, 32417856, 32449595-32449598, 32456496-32456497, 32456619-32456623, 32456626, 32456647-32456698, 32456718, 32456725-32456732, 32456890
137PDHX110.999335989375831150634991786
138ALX4110.998381877022652123644331180, 44331336
139F2110.999464954521131186946742091
140DDB2110.969626168224339128447237933-47237937, 47237944, 47256152-47256164, 47256484-47256485, 47259441-47259447, 47259475, 47259533-47259538, 47260354, 47260357-47260359
141MADD110.999797734627831494447350637
142MYBPC3110.92287581699346295382547353423, 47353651-47353653, 47353725, 47354515, 47361209, 47362723-47362727, 47363595-47363598, 47364172-47364178, 47364594-47364595, 47365051, 47365080-47365082, 47365114, 47367764-47367780, 47367823, 47367833, 47367868, 47367892-47367921, 47368980-47369030, 47369230, 47369415-47369418, 47369435-47369447, 47370011, 47370018, 47370042-47370061, 47371325-47371330, 47371381, 47371464-47371473, 47371579-47371614, 47371628-47371631, 47372069, 47372087, 47372122, 47372125-47372130, 47372806, 47372827, 47372830, 47372856-47372858, 47372903, 47372938-47372986, 47373049-47373050
143SLC39A13110.9516129032258154111647433502, 47433512, 47433517, 47433521-47433524, 47433921-47433930, 47433937-47433938, 47435976-47436010
144NDUFS3110.8201257861635214379547600710, 47600821-47600836, 47602083, 47602087-47602089, 47602174, 47602387-47602391, 47602394-47602400, 47602407, 47602424-47602430, 47602493-47602502, 47603653-47603695, 47603715-47603717, 47603726-47603730, 47603946-47603955, 47603971-47603997, 47604018-47604020
145SERPING1110.998003992015973150357365744, 57365752-57365753
146TMEM216110.893939393939392826461165277-61165290, 61165325, 61165335-61165337, 61165364-61165372, 61165415
147SDHAF2110.952095808383232450161197641-61197654, 61205238-61205243, 61205283-61205285, 61213465
148SLC22A12110.67809867629362535166264359029-64359037, 64359048-64359081, 64359087-64359113, 64359134, 64359139-64359162, 64359210-64359216, 64359265-64359267, 64359286, 64359290, 64359336-64359379, 64359386-64359404, 64360261, 64360274, 64360282, 64360299-64360305, 64360897-64360941, 64360961, 64361010-64361013, 64361018, 64361122, 64361126, 64361154-64361206, 64361226-64361233, 64361242-64361243, 64361270-64361271, 64365988-64366005, 64366306-64366350, 64367148-64367169, 64367208-64367300, 64367308-64367357, 64367843, 64367861, 64367904-64367910
149PYGM110.99960458679321252964521433
150MEN1110.9902597402597418184864577232-64577242, 64577568-64577574
151EFEMP2110.9369369369369484133265635516-65635527, 65635766-65635775, 65635828, 65635873-65635877, 65635880-65635892, 65636001, 65636081-65636100, 65637335, 65637351, 65638645, 65638650-65638651, 65638815-65638817, 65638820, 65638825, 65639735-65639745, 65639816
152CST6110.94545065780330-65780334, 65780364-65780371, 65780391-65780422
153SPTBN2110.96877178307542224717366454975-66454980, 66455366-66455389, 66457664, 66463748-66463751, 66463760, 66463795, 66463922, 66466250-66466254, 66468006-66468010, 66468100, 66468126-66468147, 66468264-66468267, 66468337, 66468370-66468405, 66468429, 66468530-66468542, 66468647, 66468716-66468717, 66468720-66468722, 66468741-66468747, 66468750, 66469148, 66469177, 66469180, 66472070, 66472630, 66472693, 66472705-66472706, 66472744, 66475000, 66475133-66475135, 66475177, 66475186, 66475236-66475237, 66475240-66475243, 66475253-66475254, 66475266, 66475633-66475637, 66475666-66475675, 66475734-66475735, 66476403, 66478441-66478442, 66478496, 66481787-66481799, 66481867-66481874, 66482694, 66483323, 66483344-66483353, 66483367-66483368, 66483372, 66483377, 66483387, 66483437
154PC110.9830364715860960353766617452-66617454, 66617927, 66618203, 66618208, 66618553-66618554, 66618664-66618671, 66620033-66620035, 66620040-66620042, 66620070, 66620083, 66620098, 66638620-66638623, 66639184-66639205, 66639212, 66639220-66639227
155CABP4110.8550724637681212082867222920, 67222991, 67223090-67223092, 67223128, 67223133, 67223208-67223211, 67223681, 67223795, 67225062-67225104, 67225842-67225871, 67225876, 67225886-67225887, 67225916-67225918, 67225960-67225966, 67225970-67225989, 67226124
156AIP110.4541792547834854299367254503-67254551, 67254629-67254636, 67256742-67256786, 67256809-67256842, 67256865-67256926, 67257509-67257583, 67257595, 67257599-67257602, 67257627-67257685, 67257787-67257795, 67257800, 67257805, 67257815-67257831, 67257845, 67257858-67257864, 67257878-67257880, 67257892-67257922, 67258259-67258268, 67258278-67258285, 67258290-67258299, 67258311-67258323, 67258340-67258394, 67258400-67258426, 67258441-67258452
157NDUFS8110.7977883096366512863367799769-67799799, 67800625-67800658, 67800666-67800712, 67800721-67800727, 67803820, 67803823, 67804012-67804013, 67804017, 67804057-67804060
158TCIRG1110.85238668271159368249367810110, 67810116-67810129, 67810156, 67810167-67810168, 67810199-67810214, 67810262-67810294, 67810315-67810317, 67810462-67810469, 67810473-67810477, 67810937-67810941, 67811313-67811349, 67811370-67811374, 67811657, 67811678, 67811719-67811724, 67811735, 67811752-67811755, 67811795, 67811801-67811802, 67811806, 67812478-67812482, 67812534-67812546, 67814992, 67815114-67815115, 67816562-67816594, 67816682-67816713, 67817131-67817168, 67817194-67817248, 67817607-67817608, 67817619-67817630, 67817655, 67817710-67817721, 67818072-67818086
159LRP5110.95235148514851231484868080183-68080273, 68115477, 68131289, 68131326-68131328, 68131368, 68171013, 68171017-68171019, 68174095, 68174141-68174147, 68174216-68174254, 68177382-68177384, 68181443-68181479, 68183886, 68204400-68204402, 68204407-68204419, 68204449, 68207346-68207354, 68207371-68207384, 68213956, 68216476
160CPT1A110.9952627045650311232268571479-68571485, 68582855-68582858
161IGHMBP2110.95070422535211147298268671475-68671498, 68678962, 68696693-68696710, 68700767-68700773, 68702009, 68702810-68702811, 68702858, 68703792-68703794, 68704067-68704076, 68704214, 68704248-68704252, 68704255, 68704327-68704328, 68704331-68704338, 68704341-68704354, 68704412, 68704547-68704553, 68704557-68704559, 68707110-68707128, 68707143-68707161
162MYO7A110.714350180505421899664876841686-76841698, 76853783, 76858844-76858845, 76858935, 76858970-76858996, 76866955, 76873339, 76873344-76873354, 76873357-76873362, 76883829-76883871, 76883874, 76883887-76883931, 76885823-76885824, 76885849-76885960, 76886439-76886453, 76886479-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895658, 76895683-76895760, 76900399-76900421, 76900434-76900474, 76900489-76900490, 76901066, 76901114-76901119, 76901123-76901125, 76901163-76901165, 76901177-76901180, 76901743-76901746, 76901759-76901809, 76901826, 76901851-76901868, 76901893-76901900, 76903096-76903105, 76903134-76903143, 76903147, 76903213, 76903235-76903296, 76903310-76903323, 76910785-76910787, 76912636, 76922284-76922286, 76922289-76922292, 76922295-76922298, 76922324-76922339
163FZD4110.9838909541511826161486662288, 86666035-86666052, 86666120-86666126
164TYR110.998742138364782159088961065-88961066
165DYNC2H1110.9896485129393613412945102984346, 102984350-102984352, 102991494-102991495, 102991512-102991528, 103014073, 103018519-103018525, 103019329, 103128448-103128454, 103270416-103270423, 103270445-103270477, 103270485-103270493, 103270521-103270565
166ACAT1110.99143302180685111284108004616, 108005932-108005934, 108009661-108009667
167RDX110.877283105022832151752110124767-110124768, 110126033-110126078, 110128497-110128531, 110128561, 110128574, 110128843-110128865, 110128874-110128903, 110134685-110134690, 110134755, 110134759-110134762, 110134883-110134884, 110134891-110134896, 110134924, 110135504-110135505, 110135508-110135511, 110135547, 110135550, 110143261-110143278, 110143288-110143299, 110143302-110143309, 110143334-110143344
168ALG9110.9880174291939221836111742099-111742120
169DLAT110.9969135802469161944111896394-111896395, 111896984-111896987
170DRD2110.9947447447447471332113281449-113281452, 113283322, 113283492, 113283496
171APOA1110.9813432835820915804116706693, 116706795-116706803, 116706833-116706836, 116708089
172FXYD2110.984018264840187438117695387-117695393
173DPAGT1110.9991850040749811227118967965
174TECTA110.9922660479505506465120989053-120989102
175WNK1120.99524409008253347149862747-862753, 862846-862852, 862869, 862989, 863207-863213, 863216-863218, 863273, 863334-863339, 863346
176CACNA2D4120.971880492091399634141902835-1902846, 1904857, 1904865, 1904899, 1904931-1904932, 1904942, 1906595, 1906617-1906642, 1906652-1906670, 1909204, 1909553-1909581, 1910220, 1910223
177CACNA1C120.994360615759793765612595289, 2602360, 2760872-2760880, 2760909, 2763047-2763051, 2763055-2763056, 2763059, 2773994, 2788894, 2794934-2794940, 2794974-2794980, 2800352
178VWF120.9681355129116326984426122647-6122650, 6125328-6125344, 6125722-6125728, 6125813-6125819, 6127532-6127538, 6127637-6127661, 6127726-6127744, 6127940-6127946, 6128064-6128087, 6128228-6128263, 6128297-6128303, 6128339-6128357, 6128440-6128454, 6128557, 6128784-6128790, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6132064
179TNFRSF1A120.980263157894742713686438527-6438533, 6438599-6438612, 6438774-6438775, 6450942-6450945
180SCNN1A120.977137631458625021876457039-6457041, 6457044-6457046, 6458359-6458362, 6458568-6458571, 6463623, 6463700-6463701, 6464557-6464572, 6464958-6464961, 6483798-6483799, 6483804-6483813, 6484085
181TPI1120.709333333333332187506976731-6976734, 6976752-6976845, 6978028-6978032, 6978057-6978059, 6978146-6978151, 6978333-6978347, 6978422-6978428, 6978456-6978462, 6978912-6978914, 6978917-6978918, 6979226-6979251, 6979433-6979478
182ATN1120.9983207388749635737045892-7045894, 7047143, 7050159-7050160
183ABCC9120.9795698924731295465021954107-21954108, 21960390-21960406, 22005073, 22005076, 22005109, 22005334-22005340, 22005413-22005439, 22025595-22025599, 22025614-22025639, 22025655, 22025658-22025664
184DNM1L120.9696969696969767221132860301-32860312, 32866197-32866249, 32866287, 32866295
185KIF21A120.9949859606899325498639705261, 39705276-39705298, 39705343
186LRRK2120.9943301687763743758440757309-40757317, 40760856-40760863, 40760874, 40761446-40761467, 40761565-40761567
187IRAK4120.9732465654374537138344162039, 44166140-44166141, 44166725-44166730, 44166738-44166750, 44166789, 44166838, 44166874-44166875, 44171496, 44171502, 44172076, 44172082, 44176193, 44180258, 44180358-44180360, 44180483-44180484
188COL2A1120.999551971326162446448381408-48381409
189MLL2120.9998796195979321661449425793, 49431510
190TUBA1A120.98464912280702745649522235-49522241
191ACVRL1120.9695767195767246151252307072-52307099, 52307516-52307517, 52307758-52307759, 52308288, 52308334-52308342, 52308345-52308348
192KRT81120.9894598155467716151852681416, 52681437, 52682999-52683005, 52684950-52684956
193KRT86120.998631074606432146152695997, 52697952
194KRT6B120.9433628318584196169552843632-52843637, 52844243, 52844246, 52845365-52845371, 52845432-52845438, 52845528-52845534, 52845571-52845604, 52845662-52845686, 52845797-52845804
195KRT6C120.9463126843657891169552865295-52865300, 52865918, 52865925, 52867024-52867030, 52867094, 52867105, 52867187-52867193, 52867230-52867263, 52867321-52867345, 52867456-52867463
196KRT6A120.94041297935103101169552884735, 52886478, 52886542-52886559, 52886638-52886644, 52886681-52886714, 52886772-52886796, 52886864-52886870, 52886907-52886914
197KRT5120.985335589396526177352908872, 52908879-52908902, 52908917
198AAAS120.998781230956732164153702240, 53703053
199RPS26120.98275862068966634856437182-56437184, 56437195-56437197
200LEMD3120.95138888888889133273665563399, 65563404, 65563423-65563425, 65563590-65563595, 65563619, 65563627, 65563630, 65563932-65563938, 65564016-65564041, 65564074-65564077, 65564602, 65609782-65609795, 65632297, 65632304, 65632496-65632515, 65632521, 65632550-65632554, 65637173-65637176, 65637231, 65639514, 65639529-65639538, 65639665-65639667, 65640033-65640043, 65640054, 65640060, 65640070, 65640100-65640105
201MMAB120.9349269588313449753109994833, 109994838, 109998845-109998854, 110009454-110009481, 110011221-110011225, 110011229-110011230, 110011241-110011242
202MVK120.97984886649874241191110012635, 110012644, 110012685, 110013932, 110013936, 110017615-110017621, 110017722-110017729, 110019288-110019290, 110023874
203TRPV4120.9988532110091732616110226379, 110252579, 110252583
204ATP2A2120.9993608181527623129110719603, 110719656
205ATXN2120.877473363774734833942111957730, 111957738, 111957861-111957862, 111958733-111958739, 112036590, 112036602-112036627, 112036647-112036674, 112036690-112036692, 112036698, 112036729-112036758, 112036769-112036779, 112036797, 112036806-112036839, 112036861-112036964, 112036970-112037042, 112037051-112037056, 112037067-112037136, 112037205-112037232, 112037240-112037284, 112037293-112037298, 112037314-112037318
206HNF1A120.98786919831224231896121416617-121416622, 121434391-121434395, 121434403-121434408, 121437292, 121437302, 121437309, 121438915-121438916, 121438964
207HPD120.9932318104906981182122294269-122294276
208ATP6V0A2120.9968883702839482571124229165-124229168, 124229227, 124229429, 124241405, 124241410
209PUS1120.838785046728972071284132414269-132414331, 132414452-132414456, 132414502-132414544, 132414567-132414573, 132414585-132414642, 132426010, 132426045-132426052, 132426414-132426427, 132426430, 132426433-132426435, 132426478-132426481
210SGCG130.99885844748858187623898664
211SACS130.9995633187772961374023911820, 23985370, 23985374-23985377
212B3GALTL130.9766199064796335149731774222-31774246, 31774271, 31774274-31774277, 31903665, 31903670, 31903718-31903720
213BRCA2130.9998050112118621025732969062, 32972737
214SLC25A15130.99889624724062190641382661
215RB1130.9906709723717326278749037924, 49039418, 49051491-49051495, 49051513-49051518, 49051529-49051540, 49054191
216ATP7B130.999317871759893439852523871-52523873
217GPC6130.998201438848923166894958350-94958352
218ZIC2130.903064415259541551599100634394-100634411, 100634592-100634603, 100637709-100637812, 100637837-100637856, 100637928
219PCCA130.9817101051669402187100755177, 100755208-100755214, 100764132, 100861589-100861590, 100861596-100861597, 100861606-100861624, 100861701-100861708
220ERCC5130.9985845718329864239103459797-103459802
221COL4A1130.99221556886228395010110804809, 110831347, 110838796-110838799, 110864225, 110864243-110864269, 110895045, 110959338-110959340, 110959347
222F7130.522097378277156381335113760161-113760162, 113760180-113760217, 113765004-113765025, 113765034-113765083, 113765101-113765164, 113768085, 113769974-113770010, 113770016-113770030, 113770065-113770094, 113770111, 113771172, 113771177-113771188, 113771803-113771829, 113771854, 113771857, 113771897-113771905, 113771909-113771910, 113772732-113772739, 113772743-113772746, 113772757, 113772762-113772790, 113772797-113772809, 113772832, 113772844-113772927, 113772963-113772972, 113772976-113772977, 113772982, 113773003-113773057, 113773092-113773127, 113773131, 113773143, 113773146-113773147, 113773155, 113773159, 113773165-113773167, 113773177-113773198, 113773240-113773245, 113773248-113773265, 113773292-113773293, 113773299-113773322
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225TEP1140.96448503297818280788420840944-20840946, 20841460-20841466, 20842664-20842669, 20843986-20844019, 20844309-20844314, 20844353-20844354, 20845511-20845519, 20847211-20847225, 20848167-20848170, 20848179-20848181, 20848414-20848426, 20849110, 20849773-20849781, 20850457-20850467, 20850483, 20850494-20850508, 20851404-20851405, 20851490-20851494, 20851754-20851780, 20853216, 20854267-20854273, 20854613, 20854702-20854705, 20854709-20854716, 20854734, 20854744, 20854747, 20856110-20856132, 20857397-20857407, 20857444-20857447, 20857873-20857899, 20858879-20858889, 20859232-20859234, 20859238, 20859804, 20859925-20859926
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227PABPN1140.97285559174812592123790700, 23790703-23790705, 23790896-23790915, 23791025
228MYH6140.998625429553268582023862902, 23869543-23869545, 23870045-23870047, 23871962
229MYH7140.9953512396694227580823894018, 23894594-23894602, 23895997-23896013
230NRL140.984593837535011171424550554-24550560, 24550596-24550597, 24551924, 24551929
231FOXG1140.80748299319728283147029236659-29236887, 29236903-29236956
232CFL2140.98602794411178750135182570, 35182581-35182586
233NKX2-1140.994195688225547120636988376-36988382
234PAX9140.99902534113061102637132417
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236C14orf104140.9868735083532233251450100778, 50100782, 50100941-50100942, 50101142-50101153, 50101261-50101263, 50101352, 50101368-50101370, 50101457-50101466
237ATL1140.999398315282791166251057727
238GCH1140.92031872509966075355310846, 55369197, 55369211, 55369224-55369266, 55369282-55369295
239OTX2140.99664429530201389457268491-57268492, 57272104
240SYNE2140.99778035128354462072464556368-64556401, 64560165, 64580279-64580289
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242VSX2140.99631675874774108674706327, 74706336-74706338
243MLH3140.9885373681797350436275506632, 75513426-75513442, 75514022-75514038, 75515859-75515865, 75516190-75516197
244ESRRB140.998690242305172152776964691, 76964701
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246VIPAR140.9689608636977146148277894713-77894757, 77919698
247GALC140.9732750242954355205888431862, 88434679-88434703, 88434751-88434761, 88434819-88434834, 88448555, 88459367
248TTC8140.998062015503883154889310169, 89310172-89310173
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251VRK1140.9722921914357733119197304122-97304154
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253INF2140.466420013750105167713-105167736, 105167759-105167776, 105167805-105167807, 105167818, 105167824-105167838, 105167850, 105167853, 105167862, 105167869, 105167895-105167940, 105167965-105167998, 105168010, 105168054-105168082, 105169500-105169536, 105169633-105169672, 105169682, 105169696-105169700, 105169723, 105169728-105169761, 105169763-105169770, 105170253-105170286, 105172372-105172388, 105172413-105172456, 105172470, 105172475, 105172479-105172482, 105173267, 105173273-105173284, 105173302, 105173324-105173338, 105173363, 105173371-105173373, 105173382-105173384, 105173618, 105173626-105173628, 105173654-105173684, 105173695-105173821, 105173844-105174217, 105174230-105174273, 105174280-105174325, 105174333-105174339, 105174790-105174848, 105174865-105174921, 105175009-105175025, 105175062-105175069, 105175694-105175720, 105175957-105175965, 105176004-105176023, 105176426-105176431, 105176434-105176469, 105176481, 105176487-105176490, 105176496-105176521, 105177301, 105177337-105177344, 105177416, 105177419, 105177437-105177443, 105177455, 105177466-105177515, 105177518-105177519, 105178007, 105178022-105178024, 105178770-105178795, 105178807-105178851, 105178874-105178880, 105178883, 105179165-105179183, 105179234-105179297, 105179310, 105179313-105179319, 105179570-105179626, 105179782-105179831, 105179841-105179855, 105179865-105179943, 105180540-105180545, 105180565, 105180593, 105180599, 105180633, 105180638-105180641, 105180650, 105180653-105180654, 105180658, 105180661, 105180706-105180730, 105180757-105180761, 105180793, 105180797, 105180868, 105180880-105180893, 105180925-105180926, 105180929-105180933, 105180937-105180938, 105180962-105181047, 105181077-105181100, 105181108-105181116, 105181155, 105181159, 105181643-105181659, 105181664
254NIPA1150.8161616161616218299023060890-23060893, 23086234-23086411
255UBE3A150.84132420091324417262825584284-25584289, 25584400, 25585272, 25585374, 25599526-25599528, 25601039-25601111, 25601128-25601154, 25601196-25601199, 25601878-25601884, 25601888-25601899, 25601905-25601922, 25601926-25601938, 25601963-25602008, 25602028-25602043, 25605530-25605533, 25605567, 25605654-25605674, 25615758-25615786, 25616057-25616092, 25616171-25616177, 25616249-25616271, 25616361, 25616451, 25616550-25616556, 25616620-25616626, 25616812-25616840, 25616883-25616889, 25650608-25650619, 25650646-25650649
256SLC12A6150.999710396756441345334546632
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261TTBK2150.9895582329317339373543037998, 43103902-43103939
262STRC150.9816066066066198532843893599-43893605, 43896303-43896312, 43897597, 43900150-43900173, 43907745-43907751, 43910436-43910443, 43910863-43910903
263STRC150.996410256410267195044007207-44007213
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266GATM150.998427672955972127245658613, 45670629
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270NR2E3150.997282608695653110472103860-72103862
271HEXA150.996226415094346159072668071-72668074, 72668142, 72668313
272HCN4150.85049833887043540361273614886-73614894, 73615015, 73615096, 73615100-73615105, 73615171, 73615218-73615224, 73615445-73615475, 73616163-73616173, 73616179, 73659834-73659840, 73659999, 73660029-73660154, 73660200, 73660212-73660230, 73660271-73660385, 73660397-73660599
273MPI150.99371069182398127275182890, 75182893-75182898, 75189993
274ETFA150.85329341317365147100276576100-76576101, 76576136, 76576158-76576166, 76577978-76577984, 76578065-76578079, 76578714-76578735, 76578775-76578795, 76580190-76580229, 76580236, 76580245, 76584848, 76587956, 76587987, 76587990-76587994, 76587997-76588000, 76588029-76588031, 76588066-76588078
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276FANCI150.994983697015320398789835979, 89836228, 89843080, 89843161-89843177
277POLG150.9919354838709730372089864024-89864030, 89866101, 89867351, 89869947-89869948, 89872029-89872044, 89876828-89876830
278MESP2150.9455611390284865119490319597-90319627, 90319685-90319703, 90319769, 90319871-90319876, 90320146, 90320149, 90320158, 90320161, 90320173, 90320238-90320240
279BLM150.999529854254822425491337479, 91354505
280HBZ160.66433566433566144429202941-202958, 203891-203896, 203942-203986, 204004, 204014, 204042-204048, 204052-204057, 204073-204075, 204085-204095, 204276-204321
281HBA2160.8391608391608469429222939-222980, 223000, 223003, 223128-223137, 223173-223178, 223181, 223323, 223487-223493
282GNPTG160.82026143790851659181401967-1402018, 1402103-1402110, 1402120-1402155, 1402240-1402296, 1402303-1402307, 1412901-1412907
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284IGFALS160.41614906832298112819321840601-1840635, 1840642, 1840645-1840677, 1840714-1840752, 1840762, 1840769-1840773, 1840800-1840836, 1840855-1840893, 1840914, 1840917-1840920, 1840927-1841047, 1841054-1841056, 1841060-1841064, 1841092-1841139, 1841178, 1841181-1841185, 1841206, 1841212-1841237, 1841258-1841329, 1841360, 1841381-1841439, 1841451, 1841462, 1841502-1841555, 1841563-1841622, 1841630-1841679, 1841730-1841776, 1841800-1841805, 1841810-1841815, 1841837-1841857, 1841890-1841905, 1841937-1841938, 1841964-1841984, 1841994-1842020, 1842029, 1842033, 1842059-1842139, 1842183, 1842204-1842209, 1842212-1842213, 1842216, 1842233-1842285, 1842297-1842331, 1842360, 1842366, 1842369-1842399, 1842409-1842449, 1842476, 1842510-1842516, 1843638-1843653
285GFER160.0339805825242725976182034220-2034477, 2034748-2034810, 2034816-2034847, 2034857-2034937, 2035867-2036029
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287PKD1160.007125154894671612820129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2143900, 2143907-2144014, 2144093-2144160, 2144175-2144211, 2147149-2147242, 2147320-2147424, 2147432-2147504, 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, 2185522-2185541, 2185561-2185690
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179437096-179437101, 179437113-179437162, 179437171-179437282, 179437311-179437364, 179437388-179437417, 179437436-179437451, 179437490-179437634, 179437647, 179437662-179437707, 179437713-179437737, 179437740, 179437751-179437755, 179437758-179437764, 179437784-179437785, 179437798-179437830, 179437884-179437918, 179437941-179437952, 179437967, 179437985-179438044, 179438086, 179438099-179438128, 179438132-179438136, 179438151-179438187, 179438194-179438222, 179438246-179438265, 179438294-179438330, 179438351, 179438396-179438419, 179438449-179438451, 179438462-179438463, 179438493-179438527, 179438559-179438640, 179438712, 179438724-179438769, 179438784, 179438791-179438801, 179438805-179438807, 179438844, 179438876, 179438903, 179438927-179438985, 179439026-179439032, 179439042, 179439056-179439079, 179439126, 179439152-179439160, 179439185-179439190, 179439193-179439199, 179439238, 179439256-179439266, 179439282, 179439296-179439310, 179439321-179439396, 179439402-179439442, 179439525-179439567, 179439581-179439660, 179439670-179439672, 179439682-179439688, 179439696-179439723, 179439742-179439749, 179439760, 179439804, 179439813-179439818, 179439828, 179439881-179439885, 179439924-179439936, 179439955-179439960, 179439990-179440032, 179440049-179440093, 179440111-179440117, 179440156-179440197, 179440281-179440287, 179440323-179440345, 179440412-179440433, 179440454-179440530, 179440567-179440568, 179440573, 179440621-179440670, 179440693-179440740, 179440752, 179440756-179440758, 179440786-179440817, 179440838-179440881, 179440890-179440915, 179440925-179440969, 179440988-179441003, 179441024-179441059, 179441100-179441110, 179441256-179441286, 179441314-179441323, 179441340-179441410, 179441419-179441453, 179441495-179441502, 179441650-179441681, 179441709-179441769, 179441773, 179441782-179441789, 179441817-179441844, 179441855, 179441879-179441912, 179441921-179441951, 179441972-179442226, 179442329-179442433, 179442490-179442496, 179442502-179442619, 179442715-179442727, 179442762-179442794, 179442802-179442854, 179442876-179442912, 179443349-179443434, 179443533-179443665, 179443676-179443753, 179443782-179443821, 179443852, 179443855-179443856, 179443868-179443890, 179443896-179443936, 179443941-179443943, 179443947-179443997, 179444044-179444066, 179444087-179444120, 179444303-179444397, 179444425, 179444438-179444518, 179444561-179444575, 179444666-179444682, 179444688-179444698, 179444713-179444732, 179444754-179444828, 179444832-179444840, 179444854-179444860, 179444868-179444870, 179444874, 179444916-179444920, 179444944-179444956, 179445049-179445090, 179445116-179445147, 179445165-179445221, 179445228-179445336, 179446226-179446254, 179446280-179446325, 179446372-179446396, 179446406-179446413, 179446487-179446490, 179446497-179446509, 179446691-179446694, 179446705-179446709, 179446764-179446797, 179446822-179446836, 179446849-179446909, 179446919-179446920, 179446924-179446935, 179447052-179447082, 179447089-179447137, 179447154, 179447193-179447197, 179447203-179447217, 179447221-179447263, 179447277-179447319, 179447667-179447819, 179447822, 179447882-179447954, 179448334-179448335, 179448345-179448395, 179448422-179448463, 179448476-179448529, 179448599-179448622, 179449019, 179449058-179449059, 179449069-179449084, 179449125, 179449133-179449151, 179449177-179449206, 179449257-179449304, 179449437-179449444, 179449488, 179449550-179449551, 179449583-179449591, 179449800-179449802, 179449807-179449811, 179449854-179449855, 179449882-179449883, 179449886, 179449894, 179449900-179449914, 179449967, 179450071, 179451242-179451259, 179451264-179451273, 179451324-179451345, 179451371-179451398, 179451411-179451433, 179451440, 179451845-179451851, 179451891-179451964, 179451984-179452040, 179452243, 179452272-179452321, 179452372-179452375, 179452438-179452458, 179452476-179452499, 179452503, 179452632-179452636, 179452662-179452666, 179452755-179452770, 179452820-179452840, 179452861-179452894, 179452901-179452915, 179453333-179453337, 179453356-179453408, 179453444-179453456, 179453495-179453510, 179453515, 179453588, 179453608, 179453650-179453667, 179453680-179453718, 179453736, 179453765-179453776, 179453832-179453864, 179453923-179453941, 179453959-179453983, 179454007-179454015, 179454090-179454093, 179454118, 179454153-179454160, 179454225-179454250, 179454323-179454324, 179454388-179454392, 179454518-179454538, 179454644-179454656, 179454698-179454700, 179454710, 179454714, 179454757-179454759, 179454789-179454802, 179454832-179454877, 179454889-179454891, 179454906-179454909, 179454938-179454986, 179455029-179455037, 179455066-179455108, 179455130-179455142, 179455207, 179455229-179455267, 179455309-179455325, 179455428, 179455432, 179455439-179455449, 179455474-179455485, 179455503, 179455511-179455519, 179455525-179455528, 179455580-179455613, 179455680, 179455683-179455685, 179455694-179455695, 179455698-179455701, 179455731-179455779, 179455809-179455829, 179455893-179455897, 179455947-179455949, 179456005, 179456012-179456042, 179456098-179456099, 179456131-179456133, 179456163-179456172, 179456176, 179456195-179456208, 179456327-179456344, 179456365, 179456370-179456373, 179456379-179456381, 179456386, 179456440-179456447, 179456453, 179456500-179456514, 179456705-179456736, 179456780, 179456802-179456808, 179456814-179456817, 179456870, 179456874-179456885, 179456914-179456938, 179457000-179457004, 179457119-179457120, 179457128, 179457133, 179457136, 179457169-179457170, 179457186, 179457201-179457214, 179457325-179457328, 179457578, 179457680, 179457686, 179457904, 179457908-179457914, 179457993-179457995, 179458029, 179458070-179458074, 179458078, 179458083-179458091, 179458098-179458102, 179458131-179458136, 179458383-179458384, 179458387, 179458446-179458451, 179458481, 179459101-179459155, 179459168-179459178, 179459219-179459236, 179459245-179459246, 179459250-179459252, 179459276, 179459304-179459354, 179460331-179460336, 179460435-179460442, 179471882-179471886, 179473059, 179474006-179474012, 179474057-179474058, 179474062-179474064, 179474968-179474970, 179476112, 179477092, 179477104, 179477111, 179477133-179477144, 179477190-179477194, 179478497-179478499, 179478532, 179479267-179479277, 179479295, 179479308, 179479671, 179480475, 179481456-179481482, 179482120, 179482133-179482134, 179482192-179482193, 179482196-179482198, 179482698-179482718, 179483197-179483199, 179483568, 179484717, 179484768, 179484784, 179484789, 179484792, 179484964, 179485090, 179485122, 179485154-179485157, 179485176, 179485184-179485197, 179485246-179485257, 179485260-179485261, 179485306-179485307, 179485530-179485540, 179485559, 179485563, 179485576, 179485589-179485598, 179485941, 179486203-179486247, 179486299-179486332, 179486337-179486342, 179486583-179486624, 179489252, 179489255-179489260, 179489379-179489382, 179490077-179490087, 179494028-179494029, 179495041, 179495648, 179495660, 179495785-179495791, 179495795-179495799, 179495802, 179495830, 179496893-179496899, 179496918, 179496921-179496927, 179496941, 179497028-179497071, 179497081-179497087, 179497253-179497262, 179497269, 179497272, 179497279, 179497374, 179497402, 179498040-179498053, 179498170-179498183, 179498264-179498299, 179498339, 179498545-179498581, 179498590-179498596, 179498601, 179498619-179498628, 179498670-179498675, 179498726, 179498769, 179498793-179498801, 179498807-179498810, 179499093-179499109, 179499131-179499144, 179499168-179499202, 179499205-179499206, 179499237-179499258, 179499327, 179499469, 179499480-179499496, 179499575-179499576, 179499937-179499939, 179499942, 179499971, 179499974, 179499982, 179500167-179500168, 179500246-179500277, 179500317, 179500331, 179500434-179500442, 179500691, 179500696-179500699, 179500761-179500793, 179500808-179500815, 179500861, 179501152-179501156, 179501169, 179501187-179501265, 179501344-179501354, 179501395, 179501436-179501461, 179501484-179501485, 179502113-179502121, 179504467, 179504512-179504515, 179504779, 179504834, 179505268-179505287, 179505975, 179505983, 179506041-179506042, 179506969-179506983, 179506988-179506991, 179507038-179507044, 179509275-179509291, 179510651-179510652, 179510656-179510669, 179510727-179510741, 179514544-179514581, 179514891-179514925, 179515481, 179515487-179515514, 179516022, 179516180-179516218, 179516417-179516426, 179516468-179516476, 179516628-179516652, 179554049-179554050, 179554242-179554251, 179554305, 179568897-179568898
514CERKL20.9987492182614121599182468662-182468663
515COL3A120.99250170415815334401189860854, 189860857, 189860860-189860863, 189867720, 189870131, 189870138, 189871672, 189871675, 189871680, 189872264, 189872275, 189872278, 189872613-189872630
516COL5A220.99377777777778284500189940119-189940128, 189944740, 189945716-189945732
517PMS120.9985709181850742799190682770-190682773
518MSTN20.98581560283688161128190926950-190926958, 190927256-190927262
519STAT120.97248113626276622253191873775-191873795, 191874618-191874648, 191874715-191874724
520HSPD120.913472706155631491722198351784-198351808, 198351835-198351865, 198351873-198351909, 198352707, 198352751-198352752, 198353060, 198353084, 198353117, 198353129-198353137, 198353155-198353194, 198353902
521CASP1020.998725302740621569202050698-202050699
522BMPR220.9996791786974713117203421199
523CPO20.98488888888889171125207804388-207804391, 207820215-207820224, 207820276, 207825587-207825588
524ACADL20.647331786542924561293211053722-211053726, 211053778, 211057528-211057530, 211057574, 211057614, 211059938-211059955, 211059986-211060045, 211068109-211068121, 211068132-211068138, 211068141, 211069317-211069333, 211069391-211069406, 211070356-211070414, 211070503-211070520, 211074954, 211074957-211074967, 211081082, 211081099-211081146, 211081159-211081160, 211081185, 211081188, 211081217-211081235, 211082701-211082723, 211082737-211082760, 211082784-211082814, 211082824-211082826, 211085371-211085402, 211085415-211085416, 211085421, 211085430-211085433, 211085455, 211085459-211085471, 211085490, 211085511-211085526, 211089958
525ABCA1220.99383667180277487788215798865-215798898, 215809746, 215876166, 215884132-215884135, 215884138, 215890472-215890478
526SMARCAL120.9986038394415442865217340019, 217340030, 217340033, 217347615
527PNKD20.894645941278071221158219136221-219136223, 219204516-219204517, 219204521, 219204525, 219204532-219204536, 219204541-219204553, 219204597, 219204752, 219204757-219204758, 219204775-219204780, 219204845-219204862, 219205451-219205468, 219205475-219205478, 219206260-219206269, 219206284-219206285, 219206710, 219206769-219206772, 219206852-219206862, 219208284, 219208307-219208309, 219209178-219209191, 219209623
528DES20.93984430290163851413220283199-220283231, 220283259, 220283266, 220283277, 220283280, 220283285, 220283442-220283465, 220283576, 220283580-220283582, 220283624, 220283704-220283713, 220284819-220284822, 220285267-220285268, 220285629, 220285662
529OBSL120.98594271657002805691220417266, 220417332, 220435375, 220435648-220435657, 220435668, 220435684-220435709, 220435725-220435761, 220435935, 220435941-220435942
530COL4A420.99684044233807165064227912217-227912221, 227927313-227927314, 228012154-228012162
531SLC19A320.9986586183769321491228563534-228563535
532SP11020.9995331465919712142231072709
533CHRND20.96911196911197481554233390937, 233390944, 233390953-233390962, 233396261-233396296
534CHRNG20.996782496782551554233409244-233409248
535AGXT20.9957591178965251179241808290, 241808314, 241810077, 241810793-241810794
536D2HGDH20.94252873563218901566242707126-242707127, 242707218, 242707224-242707225, 242707230-242707231, 242707234-242707235, 242707304-242707384
537C20orf54200.98723404255319181410744531-744548
538IDH3B200.99395509499136711582639468-2639474
539AVP200.81616161616162914953063322-3063372, 3063445-3063448, 3063632-3063633, 3063638-3063648, 3063651-3063653, 3063678-3063688, 3063748, 3063758-3063759, 3063815-3063820
540PANK2200.966725043782845717133870104, 3870124, 3888581-3888584, 3888634-3888666, 3888826, 3888829-3888837, 3891268-3891273, 3891283, 3903911
541JAG1200.95898277276456150365710620195-10620212, 10620219, 10620366, 10621581, 10622501, 10624485, 10627659, 10627668, 10629748-10629749, 10630919-10630933, 10653349-10653366, 10653377-10653392, 10653486-10653510, 10653535-10653539, 10653568-10653583, 10653626-10653632, 10654152-10654158, 10654165-10654178
542SNTA1200.82872200263505260151831998042-31998043, 32000218-32000232, 32000381-32000404, 32000411-32000449, 32000476, 32000504, 32000574-32000582, 32005683, 32031155-32031231, 32031263, 32031295-32031301, 32031310-32031333, 32031345-32031350, 32031367-32031372, 32031380-32031426
543SAMHD1200.9479000531632198188135526244-35526253, 35526259, 35526269, 35526305, 35526309, 35526896, 35532616, 35533767-35533775, 35533884-35533885, 35539663-35539665, 35539679, 35539701-35539703, 35539720-35539736, 35540864-35540881, 35540925-35540926, 35540930-35540931, 35540934-35540936, 35540939-35540941, 35540949-35540955, 35545213, 35545365, 35545368-35545369, 35547823-35547828, 35547879, 35563453
544ADA200.9294871794871877109243252856, 43252924-43252926, 43252930-43252935, 43252938-43252942, 43255108-43255109, 43255171-43255175, 43255199-43255213, 43255232, 43257757-43257780, 43257796-43257810
545CTSA200.997995991983973149744520238-44520240
546SLC2A10200.997539975399754162645338376-45338379
547DPM1200.985951468710091178349562384-49562393, 49562440
548SALL4200.9936748893105620316250407098-50407104, 50408342-50408347, 50418834-50418840
549VAPB200.969945355191262273256993344, 56993399-56993419
550GNAS200.986449864498651073857415180-57415184, 57415188-57415190, 57415470, 57415538
551GNAS200.87925497752087376311457428431, 57428436, 57428442-57428469, 57428512-57428526, 57428532-57428543, 57428911-57428914, 57428959, 57429068-57429071, 57429077, 57429090-57429117, 57429200-57429248, 57429269-57429275, 57429396, 57429409, 57429437, 57429440-57429445, 57429448-57429457, 57429492-57429493, 57429497-57429502, 57429569-57429575, 57429607-57429623, 57429646-57429718, 57429732-57429764, 57429797-57429802, 57430023-57430029, 57430057-57430098, 57430338-57430350
552EDN3200.99442119944212471757875899, 57875905, 57876611, 57876685
553COL9A3200.94793187347932107205561448417-61448441, 61448453-61448454, 61448490, 61448936, 61448945, 61448950-61448952, 61448955-61448963, 61453511, 61455849-61455853, 61456356-61456373, 61458161, 61458170-61458171, 61461728, 61461869, 61461898-61461917, 61468571, 61471952, 61471992-61472005
554CHRNA4200.103503184713381689188461978090-61978215, 61981008-61981029, 61981038-61981067, 61981070-61981092, 61981098-61981107, 61981113-61981243, 61981249-61981250, 61981266-61981497, 61981507-61981804, 61981827-61981844, 61981863-61982101, 61982127-61982141, 61982146-61982148, 61982155-61982158, 61982174-61982215, 61982234, 61982242-61982263, 61982278-61982329, 61982344-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
555KCNQ2200.560137457044671152261962037997-62038033, 62038043-62038057, 62038069, 62038073-62038104, 62038135-62038138, 62038149, 62038153-62038155, 62038158, 62038234-62038314, 62038321-62038361, 62038395, 62038404, 62038407, 62038410-62038418, 62038424-62038425, 62038428-62038447, 62038471-62038515, 62038540-62038545, 62038555-62038613, 62038636-62038685, 62038714-62038728, 62039766-62039790, 62039835, 62039866, 62045521, 62046274, 62046319-62046349, 62046391, 62046403, 62046421-62046424, 62046428, 62046443, 62050992, 62055535, 62059751-62059763, 62059766-62059780, 62069988, 62069993, 62070956-62070958, 62071005-62071052, 62073768-62073769, 62073776-62073779, 62073822, 62073828, 62073849-62073876, 62076012-62076032, 62076043-62076075, 62076088, 62076098, 62076101, 62076104, 62076144-62076187, 62076607, 62076616, 62076624, 62076636, 62076645-62076709, 62076717, 62078100-62078166, 62078185-62078189, 62103521-62103816
556SOX18200.51861471861472556115562679674-62679680, 62679838-62679857, 62679913-62679936, 62679948-62679956, 62679961-62679965, 62679969-62679970, 62680054-62680078, 62680087-62680124, 62680130-62680143, 62680149-62680181, 62680200-62680206, 62680214, 62680242-62680250, 62680288, 62680292-62680293, 62680309, 62680512-62680869
557APP210.999135322092522231327354736, 27354740
558BACH1210.9778380823156949221130698384, 30698389-30698392, 30698411, 30698439, 30698456-30698458, 30698504, 30698543, 30701918, 30701980-30701982, 30701999, 30714926, 30714962-30714963, 30715078, 30715088-30715093, 30715099, 30715122-30715142
559IFNGR2210.9289940828402472101434775851-34775922
560RCAN1210.973649538866932075935890479-35890482, 35987252-35987261, 35987264-35987269
561RUNX1210.9951489951497144336259230-36259236
562CLDN14210.97272037833274-37833279, 37833283-37833286, 37833410-37833412, 37833678-37833681, 37833715, 37833801-37833847, 37833941-37833947
563CBS210.99939613526571165644492164
564AIRE210.56043956043956720163845705897, 45705903-45705904, 45705928-45705942, 45705969-45706005, 45706452-45706454, 45706483-45706521, 45706867, 45706871-45706872, 45706908, 45706932-45706933, 45706950-45706973, 45707400-45707402, 45707466-45707474, 45708259, 45708277, 45708340-45708341, 45709590-45709638, 45709655-45709680, 45709874-45709913, 45709940, 45709943-45709950, 45710992, 45711004-45711006, 45711010, 45711069, 45712211, 45712876-45712912, 45712925, 45712937-45712949, 45712960-45712970, 45712976-45712977, 45712995-45713058, 45713672-45713712, 45713722-45713793, 45714284-45714386, 45716275, 45716285-45716328, 45717539-45717541, 45717544-45717594, 45717608-45717610
565ITGB2210.9575757575757698231046308608-46308631, 46308666-46308678, 46308685-46308687, 46308727-46308752, 46308807-46308810, 46309404-46309410, 46310025-46310033, 46311813, 46311892, 46311901, 46311904, 46313434-46313435, 46326830-46326832, 46326844-46326846
566COL18A1210.741500474833811361526546875479-46875480, 46875644-46875651, 46875701-46875702, 46875771, 46875878-46875922, 46876179, 46876220-46876236, 46876294-46876296, 46876421, 46876427, 46876434, 46876514-46876536, 46876558-46876582, 46876597-46876674, 46876718, 46876778-46876795, 46888239, 46888243, 46888252-46888253, 46888524, 46906778, 46906815-46906819, 46909404-46909406, 46909426, 46910189-46910213, 46910237-46910260, 46910750-46910784, 46911139-46911149, 46911168-46911206, 46911212, 46911215, 46913079, 46913440, 46913485-46913489, 46914474-46914485, 46914819-46914825, 46915272-46915284, 46915311-46915318, 46916434-46916457, 46916475-46916477, 46917550, 46917566-46917571, 46923925-46923951, 46924330-46924359, 46924380-46924381, 46924384-46924387, 46924406-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927479, 46927501-46927507, 46929281, 46929291-46929367, 46929380-46929394, 46929437-46929446, 46929451, 46929467, 46929508, 46929988, 46930000, 46930014-46930035, 46930043-46930065, 46930096-46930138, 46930148, 46930155, 46931025-46931074, 46931083-46931085, 46931088-46931097, 46931106-46931112, 46931115-46931140, 46932111-46932122, 46932161-46932186, 46932193-46932194, 46932201-46932206, 46932212-46932257, 46932272-46932303
567COL6A1210.590864917395531263308747401765-47401861, 47402548-47402588, 47402606-47402658, 47402669-47402677, 47404183-47404383, 47406466-47406512, 47406525-47406599, 47406864-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409046, 47409522-47409566, 47409666-47409667, 47409682-47409692, 47410172-47410198, 47410292-47410307, 47410323-47410336, 47410687-47410694, 47410726-47410732, 47410738-47410740, 47410893-47410907, 47410931-47410951, 47411924-47411939, 47411986, 47412079-47412088, 47412114-47412118, 47412124-47412125, 47412285-47412305, 47412665-47412696, 47412702-47412724, 47414091-47414103, 47414122-47414143, 47417337-47417372, 47417646-47417662, 47418035-47418039, 47418048, 47418062-47418085, 47418811-47418812, 47418825-47418827, 47419108-47419132, 47419571-47419600, 47420245-47420258, 47422255-47422259, 47423504-47423508
568COL6A2210.194117647058822466306047531392, 47531426-47531505, 47531893-47531901, 47531913-47531961, 47531970-47531998, 47532067, 47532076, 47532099-47532143, 47532162, 47532236, 47532249-47532254, 47532284-47532289, 47532294, 47532301-47532317, 47532323, 47532345-47532348, 47532444-47532458, 47533922-47533935, 47533964, 47533984-47533987, 47535786-47535829, 47535839, 47535923-47535950, 47536291-47536317, 47536565-47536591, 47536686, 47536708-47536711, 47536715-47536728, 47537315-47537366, 47537788-47537850, 47538528-47538590, 47538944-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542445, 47542789-47542851, 47544565-47544627, 47544799-47544834, 47545180-47545225, 47545379-47545531, 47545699-47545801, 47545817-47546151, 47546417-47546455, 47551868-47552194, 47552205-47552466
569COL6A2210.02923976608187133234247552183-47552194, 47552205-47552524
570FTCD210.209102091020911286162647556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570063, 47570095-47570119, 47570160, 47570302-47570360, 47570366-47570373, 47570388-47570432, 47571472-47571494, 47571504, 47571516-47571538, 47571570, 47571573, 47571593-47571619, 47571632-47571651, 47571806-47571870, 47571876-47571894, 47572840-47572841, 47572855, 47572862, 47572875-47572894, 47572906, 47572915-47572920, 47572933-47572949, 47574063-47574096, 47574111-47574245
571PCNT210.99001098791331001001147744143-47744156, 47744183-47744185, 47744191-47744192, 47744195, 47766788-47766789, 47817263-47817269, 47817996-47817999, 47821548-47821551, 47822296-47822297, 47822354-47822396, 47836720-47836723, 47845847-47845854, 47847699-47847701, 47848457-47848459
572PRODH220.73765945646145473180318900750, 18900764, 18900960, 18901004, 18901008-18901020, 18904403-18904428, 18905839-18905885, 18905978, 18908904-18908936, 18909884-18909917, 18910636, 18912599-18912614, 18912692, 18912696, 18918578, 18918582, 18918657, 18918663-18918665, 18918668-18918670, 18918698-18918711, 18923528-18923800
573GP1BB220.08856682769726256662119711093, 19711100-19711102, 19711377-19711387, 19711417-19711451, 19711461-19711934, 19711946-19711987
574TBX1220.76747311827957346148819747167-19747196, 19748428-19748599, 19748607-19748623, 19748661-19748675, 19748686, 19753425-19753430, 19753912-19753925, 19753937-19753984, 19754023-19754049, 19754110, 19754114, 19754133-19754134, 19754294-19754295, 19754300, 19754306, 19754323, 19754348-19754354
575SMARCB1220.79965457685665232115824129357-24129359, 24129366-24129368, 24129391, 24129410-24129422, 24129435, 24129449, 24133967-24133985, 24135746-24135793, 24135799-24135805, 24135828-24135850, 24145517-24145528, 24145588, 24145591-24145598, 24175759-24175773, 24175788-24175821, 24175829-24175871
576UPB1220.9402597402597469115524906742, 24906765-24906801, 24909382, 24911297-24911313, 24919707, 24919719-24919730
577HPS4220.9654356060606173211226860099, 26860102-26860104, 26860269, 26860515-26860539, 26860590, 26860601-26860602, 26860605, 26860632-26860652, 26860719-26860727, 26861481, 26862212, 26862221-26862227
578CHEK2220.84270300965361277176129083895-29083935, 29083947-29083966, 29085133-29085171, 29090020-29090071, 29091142, 29091176, 29091197-29091203, 29091718-29091743, 29091781, 29091788, 29091816, 29091837-29091844, 29092895-29092901, 29092938-29092951, 29095888-29095921, 29099500-29099518, 29099542-29099544, 29099547, 29099554
579TCN2220.989875389408113128431003319-31003329, 31006860, 31022500
580DRG1220.999094202898551110431816392
581LARGE220.94055482166447135227133670423-33670442, 33673195-33673197, 33673231-33673241, 33679188-33679209, 33679225, 33679250-33679278, 33712078-33712126
582MYH9220.84803671596124894588336684324, 36685135-36685139, 36685266-36685269, 36688101-36688123, 36689466-36689468, 36689471, 36690211-36690236, 36690265, 36690304, 36691070-36691072, 36691077, 36691554-36691597, 36691685-36691690, 36692889, 36692904, 36696198-36696217, 36696274, 36696278-36696286, 36696289-36696291, 36696909-36696922, 36696925, 36696968-36697001, 36697049-36697078, 36697602-36697651, 36697668-36697711, 36698650, 36698675, 36698680, 36698693-36698722, 36700041-36700101, 36700104-36700106, 36700109-36700122, 36700172-36700199, 36701079-36701082, 36701086, 36701108-36701137, 36701144-36701147, 36702006-36702031, 36702042-36702058, 36702517-36702553, 36702580, 36702611, 36702638, 36705339-36705347, 36705410-36705441, 36708124-36708142, 36708235-36708236, 36708249-36708251, 36708254, 36710235, 36710267-36710311, 36712573-36712613, 36712650-36712690, 36714282, 36714292-36714301, 36716295-36716329, 36716334-36716335, 36716399-36716402, 36716852-36716867, 36717808-36717824, 36717861-36717866, 36718483-36718495, 36718524, 36722680-36722686
583TRIOBP220.815863623555931307709838109282, 38111770-38111773, 38111839-38111840, 38111848, 38111883-38111894, 38119332, 38119376, 38119461, 38119712, 38119729, 38119798-38119818, 38119879-38119921, 38120030-38120068, 38120150-38120199, 38120326, 38120429, 38120521-38120563, 38120591-38120600, 38120666-38120679, 38120735-38120743, 38120797, 38120840, 38120851, 38120904, 38120930, 38120938, 38120965, 38121040, 38121152, 38121206-38121246, 38121416-38121458, 38121487-38121516, 38121616, 38121716-38121759, 38121783, 38121786, 38121816-38121871, 38121893, 38121898-38121901, 38121930, 38121967-38121987, 38122039-38122045, 38122056, 38122059-38122076, 38122083-38122142, 38122166-38122168, 38122198, 38122214-38122216, 38122227-38122230, 38122233, 38122242-38122251, 38122428-38122501, 38129318-38129332, 38129348-38129355, 38129359-38129386, 38129389-38129397, 38129407-38129419, 38130406-38130415, 38130418-38130430, 38130448-38130482, 38130514-38130541, 38130548-38130559, 38130602-38130638, 38130728-38130729, 38130738-38130768, 38130802, 38130845-38130859, 38130888, 38130898-38130955, 38130961, 38130964, 38130978, 38130996-38131001, 38131014, 38131018-38131042, 38131072, 38131075, 38131105-38131124, 38131210-38131260, 38131285-38131287, 38131291, 38131296-38131297, 38131398, 38131402, 38131431-38131449, 38134649, 38136912-38136935, 38136942-38136962, 38147825-38147830, 38147833-38147835, 38150985-38150986, 38151151-38151163, 38153694, 38153912-38153943, 38155218-38155230, 38161722-38161726, 38161765, 38161768-38161788, 38161793, 38161816-38161819, 38164118, 38164162-38164163, 38164168, 38165052, 38165151, 38165163-38165169, 38165178, 38165184-38165186
584SOX10220.9743040685224836140138379577-38379612
585PLA2G6220.4703476482617625948938508294-38508312, 38508511-38508538, 38508545-38508584, 38509504, 38509519-38509566, 38509577-38509586, 38509608-38509610, 38509613-38509648, 38509664-38509688, 38509707, 38509717, 38509748, 38509759, 38509764-38509790, 38509806, 38509815-38509817, 38509831-38509839, 38509862-38509863, 38509866-38509868
586PLA2G6220.75258157786039599242138508168-38508178, 38508199-38508254, 38508294-38508312, 38508511-38508538, 38508545-38508584, 38509504, 38509519-38509566, 38509577-38509586, 38509608-38509610, 38509613-38509648, 38511550-38511562, 38511567, 38511579, 38511629-38511656, 38511670, 38511682, 38512082-38512108, 38512147, 38512189, 38512192, 38512195-38512196, 38512206-38512213, 38516779-38516783, 38516812-38516813, 38516816-38516832, 38516846, 38516899-38516905, 38519141, 38519147, 38519164-38519188, 38519203-38519265, 38524316, 38524343-38524347, 38524356-38524367, 38524377, 38524380, 38524410-38524425, 38525479-38525512, 38525515-38525517, 38525529-38525530, 38525557-38525569, 38528838, 38528856-38528857, 38528888, 38528903, 38528907, 38528914-38528921, 38528934, 38528986-38529014, 38530996-38530999, 38531004, 38531028, 38531072-38531073
587EP300220.9958592132505230724541537175, 41545042, 41546080, 41546123, 41546141-41546144, 41546181, 41547869-41547876, 41548006-41548016, 41558734, 41558740
588TNFRSF13C220.1369369369369447955542321381-42321454, 42321473-42321480, 42321486-42321490, 42321493-42321495, 42321504-42321515, 42321538-42321547, 42322105-42322335, 42322642-42322777
589CYB5R3220.976821192052982190643045301-43045321
590TRMU220.9407582938388675126646731671-46731696, 46731705-46731708, 46731713-46731723, 46731734, 46746311, 46751900-46751911, 46752739-46752756, 46752828, 46752840
591ALG12220.9079754601227135146750297991-50297992, 50298000, 50301392-50301398, 50301538, 50301542, 50303542, 50303619-50303620, 50303626, 50303629-50303632, 50303639-50303640, 50303672-50303685, 50303691-50303692, 50303706, 50303718-50303736, 50304158-50304177, 50307130, 50307137, 50307141-50307143, 50307288-50307294, 50307317-50307322, 50307334-50307371, 50307394
592MLC1220.9744268077601429113450502467-50502494, 50506936
593TYMP220.81987577639752261144950964210-50964213, 50964256-50964264, 50964307-50964333, 50964430-50964439, 50964453-50964528, 50964552-50964570, 50964685-50964719, 50964722, 50964744, 50964750-50964754, 50964761-50964765, 50964769, 50964803, 50964810, 50964814-50964818, 50964833, 50964836, 50964862, 50964877, 50964880-50964893, 50965005, 50965039, 50965082, 50965086-50965093, 50965121-50965134, 50965162-50965167, 50967611-50967612, 50967749-50967750, 50967753, 50967758-50967760, 50968109, 50968112-50968114
594ARSA220.86876640419948200152451063604-51063606, 51063611-51063643, 51063693-51063699, 51063740, 51063764, 51063767, 51063807-51063871, 51064070-51064096, 51064102-51064109, 51064395-51064396, 51064421-51064422, 51064432, 51064454, 51064466-51064468, 51064472-51064473, 51064477-51064482, 51065089, 51065337-51065338, 51065368-51065371, 51066020, 51066024, 51066047, 51066165-51066191
595SHANK3220.482074752097642716524451113070-51113132, 51113476-51113679, 51115050-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133203-51133246, 51133261-51133385, 51133415-51133476, 51135671-51135719, 51135951-51136143, 51137118-51137164, 51137188-51137231, 51142288-51142295, 51142346-51142347, 51142594-51142602, 51143172-51143173, 51143201, 51143216-51143228, 51143259-51143290, 51143492-51143493, 51143504, 51144500-51144507, 51144518-51144530, 51144564-51144580, 51153448-51153449, 51158612-51158644, 51158697-51158698, 51158711-51158729, 51158733-51158768, 51158776, 51158825-51158862, 51158870-51158872, 51158888-51158902, 51158922-51158923, 51158949-51158968, 51158982, 51158997-51158998, 51159016-51159040, 51159047, 51159052-51159086, 51159094-51159111, 51159131-51159135, 51159138-51159153, 51159157, 51159168-51159174, 51159180-51159220, 51159236-51159334, 51159409-51159422, 51159458-51159474, 51159541-51159542, 51159636-51159678, 51159697-51159714, 51159783, 51159887, 51159939-51159946, 51159972-51160004, 51160062-51160068, 51160147-51160154, 51160185-51160216, 51160222-51160225, 51160358-51160360, 51160553, 51160559-51160570, 51160630-51160642, 51169149-51169162, 51169170-51169177, 51169221-51169229, 51169261-51169302, 51169315-51169366, 51169386-51169417, 51169425-51169506, 51169523-51169603, 51169612-51169620, 51169642-51169652, 51169679-51169692, 51169708, 51169721-51169740
596CAV330.9978070175438614568787282
597FANCD230.982563405797177441610070360-10070361, 10070379, 10083367-10083368, 10083372-10083374, 10085533-10085548, 10088266, 10088299, 10088308, 10088340-10088346, 10089723, 10106529-10106535, 10107165-10107171, 10108895-10108901, 10114941-10114947, 10140456-10140463, 10140467-10140470, 10140504, 10140507
598VHL30.99065420560748664210183631, 10183703, 10183706-10183709
599TSEN230.9391988555078785139812531335-12531345, 12531351, 12531461-12531472, 12544932, 12571266, 12571273-12571274, 12571350-12571369, 12573087, 12573110, 12574163-12574197
600WNT7A30.99523809523815105013921267-13921271
601XPC30.9716613531703980282314201271-14201275, 14209828-14209874, 14211938-14211957, 14212044-14212046, 14219974, 14219977-14219980
602COLQ30.987573099415217136815495391-15495405, 15497415-15497416
603CRTAP30.995024875621896120633155793-33155795, 33175746-33175748
604SCN5A30.999320767532694588938616804, 38616913, 38616919, 38645420
605TMIE30.99128540305011445946742968, 46743028-46743030
606TMIE30.98726114649682647146743028-46743030, 46751074-46751076
607TREX130.9111111048507964-48507967, 48508028-48508035, 48508100, 48508107, 48508208-48508252, 48508315, 48508410, 48508425, 48508644-48508652, 48508687, 48508802, 48508853, 48508879-48508915
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698F1250.9989177489177521848176830885, 176831625
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700FLT450.3091397849462428274092180043388, 180043401-180043414, 180043437, 180043457, 180043478-180043489, 180043900-180043911, 180043946-180043956, 180045770-180045920, 180046021-180046109, 180046253-180046302, 180046314-180046366, 180046665-180046735, 180046759, 180046768-180046769, 180047173-180047204, 180047209, 180047214-180047250, 180047259-180047279, 180047299-180047308, 180047609-180047687, 180047707-180047715, 180047876-180048007, 180048106-180048112, 180048117-180048133, 180048155-180048243, 180048542-180048573, 180048595-180048664, 180048676-180048677, 180048681-180048694, 180048716-180048743, 180048766-180048904, 180049731-180049839, 180050935-180050980, 180050989-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076497, 180076503-180076511, 180076517-180076545
701FOXC160.6413959085439259616621610685, 1610710-1610717, 1610726-1610784, 1610819-1610825, 1610854-1610902, 1610994, 1611048-1611078, 1611164-1611202, 1611283-1611299, 1611318, 1611323-1611328, 1611337-1611353, 1611374-1611398, 1611417-1611447, 1611450, 1611457, 1611485, 1611510-1611528, 1611542-1611589, 1611598, 1611640-1611683, 1611692-1611728, 1611768, 1611772-1611819, 1611887-1611903, 1611930-1611933, 1611936, 1611945-1611952, 1612015-1612037, 1612050, 1612084, 1612125-1612165, 1612224-1612230
702TUBB2B60.8804185351270616013383225054-3225056, 3225075, 3225220-3225239, 3225314-3225331, 3225458-3225477, 3225540-3225565, 3225629, 3225921-3225990, 3226411
703ATXN160.9950980392156912244816327865-16327867, 16327891, 16327894, 16327909, 16327916-16327918, 16327921, 16327930, 16327933
704ALDH5A160.88221007893139194164724495292, 24495295, 24495338-24495367, 24495395-24495398, 24502751-24502769, 24505102-24505109, 24512058-24512060, 24512071-24512096, 24515447, 24515450-24515451, 24515475-24515516, 24515524-24515532, 24523004-24523017, 24523026-24523059
705HLA-H60.7026666666666722375029855764-29855783, 29855797-29855843, 29855890, 29855901-29855914, 29855940-29855942, 29855945, 29855952, 29855969, 29855999-29856001, 29856263-29856273, 29856287, 29856302-29856323, 29856347, 29856353, 29856368-29856369, 29856380-29856382, 29856389, 29856402, 29856426-29856427, 29856438-29856439, 29856445, 29856459-29856460, 29856463, 29856481-29856482, 29856490, 29856498-29856512, 29856516, 29856534, 29856546, 29856550, 29856555, 29856568-29856614, 29856633, 29856643, 29856679, 29856686, 29856696-29856697, 29856718, 29856724, 29856729, 29856740-29856741
706NEU160.993589743589748124831829853-31829855, 31829882-31829883, 31829965, 31830426, 31830544
707CFB60.999736911339121380131915748
708TNXB60.346811819595651260192931976391-31976430, 31976438-31976446, 31976466, 31976469, 31976475-31976482, 31976488, 31976822, 31976854-31976944, 31976971-31976974, 31977054-31977058, 31977082-31977111, 31977125-31977128, 31977141, 31977167-31977215, 31977318-31977347, 31977368-31977394, 31977498-31977555, 31977568-31977649, 31977742-31977779, 31977790, 31977793, 31977811, 31977833-31977834, 31977840, 31977845, 31977852-31977874, 31977994-31978028, 31978038-31978066, 31978080-31978111, 31978119-31978124, 31978219-31978223, 31978229-31978270, 31978284-31978323, 31978340-31978361, 31978480-31978544, 31978567-31978599, 31978763-31978769, 31978772, 31978778-31978815, 31978955-31978962, 31978991-31979034, 31979047, 31979304-31979328, 31979340-31979364, 31979383-31979391, 31979402, 31979424-31979541, 31979547-31979584, 31979596, 31979599, 31979625-31979639, 31979929-31979945, 31979961-31980010, 31980038-31980046, 31980068, 31980074, 31980077, 31980084-31980087, 31980114-31980139
709CYP21A260.79502688172043305148832006211-32006255, 32006273, 32006276-32006277, 32006317, 32006337, 32006516, 32006552-32006573, 32006871-32006889, 32006914-32006916, 32006956-32007003, 32007210, 32007825-32007828, 32007889-32007932, 32008245, 32008266-32008267, 32008327-32008329, 32008448-32008490, 32008533, 32008646-32008690, 32008715, 32008718, 32008722, 32008726, 32008752-32008754, 32008759-32008761, 32008781, 32008785-32008787, 32008828-32008830, 32008891
710TNXB60.912090502003311191272932009126-32009151, 32009201, 32009204, 32009210, 32009557, 32009599, 32009625-32009679, 32009697, 32009797-32009808, 32009811-32009813, 32009825-32009846, 32009863-32009864, 32009876, 32009913-32009936, 32010043-32010064, 32010076-32010083, 32010103-32010129, 32010232-32010236, 32010244-32010278, 32010289, 32010302-32010383, 32010476-32010477, 32010541, 32010564-32010608, 32010728-32010762, 32010772-32010800, 32010814-32010845, 32010853-32010858, 32010954-32010957, 32010963-32011007, 32011018-32011057, 32011074-32011095, 32011214-32011253, 32011265-32011289, 32011317-32011333, 32011813, 32011887-32011906, 32012199-32012200, 32012204, 32012209, 32012215, 32012237-32012247, 32012281, 32012304-32012387, 32012401-32012437, 32012479-32012493, 32012790-32012836, 32012892-32012900, 32012938, 32012974-32012993, 32013009, 32013013, 32013026, 32013032, 32013051, 32013070-32013093, 32014008, 32014160-32014186, 32014203-32014221, 32015523-32015532, 32015772, 32025863, 32025909, 32025945, 32025948-32025953, 32026006, 32026107, 32026115, 32029193-32029200, 32029205-32029220, 32029242-32029244, 32029283-32029290, 32029363, 32029415, 32032624, 32032655-32032656, 32032659, 32032752-32032758, 32032817-32032820, 32032838-32032840, 32035467, 32036821, 32037490, 32037503, 32037506, 32039776, 32039790-32039792, 32039967, 32039971, 32039982-32039983, 32041597, 32047056, 32057102, 32057144-32057156, 32063934-32063937, 32064270, 32064306, 32064317, 32064330-32064332, 32064726
711HLA-DQA160.8645833333333310476832609195, 32609197-32609247, 32609806, 32609949-32609978, 32610387-32610406, 32610495
712HLA-DQB160.8053435114503815378632629124-32629173, 32629193, 32629844-32629907, 32629932-32629958, 32632631, 32632820, 32634284, 32634293, 32634300-32634302, 32634306, 32634346, 32634350-32634351
713COL11A260.999808098253691521133141495
714SYNGAP160.9833829365079467403233388042-33388108
715FANCE60.9714463066418446161135420366, 35420387-35420431
716TULP160.9650092081031357162935479438, 35479959-35479966, 35479969-35479990, 35480025-35480041, 35480627-35480635
717LHFPL560.99848484848485166035773556
718MOCS160.62428048142334718191139874275-39874280, 39874290-39874295, 39874424, 39874643, 39874689, 39880040-39880042, 39880046-39880054, 39880107, 39880637-39880661, 39881062-39881064, 39881097-39881113, 39881145-39881172, 39881518-39881543, 39881568-39881569, 39881574-39881579, 39883812-39883976, 39893422-39893589, 39895068-39895317
719PRPH260.9875120076849213104142672164-42672176
720PEX660.85049269452939440294342932191-42932195, 42932553-42932569, 42932813-42932814, 42932818-42932821, 42933041-42933045, 42933049, 42933077, 42933080-42933082, 42933446, 42933488-42933492, 42933785-42933786, 42933841-42933843, 42934001-42934012, 42934015, 42934071-42934078, 42934102-42934151, 42934263-42934264, 42934387, 42934393-42934395, 42934580, 42935106-42935113, 42935150-42935151, 42935185-42935196, 42935220-42935253, 42935265-42935301, 42936028-42936060, 42936066, 42936104-42936108, 42936119-42936123, 42936129-42936147, 42936178-42936205, 42936624-42936665, 42936672-42936689, 42936696-42936723, 42937412, 42937465, 42937468-42937472, 42937483-42937484, 42937637-42937642, 42937686-42937696, 42937704-42937716, 42946380, 42946383
721RSPH960.7930204572803917283143612836-43612914, 43612920-43612976, 43612987, 43613004-43613016, 43613033, 43613045, 43624323, 43624444-43624460, 43638537, 43638541
722RUNX260.975734355044738156645390468-45390471, 45390483-45390495, 45390498-45390517, 45480093
723MUT60.91744340878828186225349399466-49399469, 49399477, 49403180-49403183, 49403263-49403270, 49403282, 49403319-49403336, 49407921-49407933, 49407936-49407938, 49407957, 49408002, 49408057, 49409553-49409671, 49412390, 49412433, 49412449-49412457, 49416563
724PKHD160.987075664621681581222551497484, 51720691-51720699, 51720723, 51720732-51720742, 51720765, 51720794, 51720817, 51720822-51720828, 51720838, 51735347, 51735352-51735364, 51735412, 51735423-51735425, 51747914, 51747973-51747995, 51748010-51748016, 51750699-51750726, 51913372, 51923347, 51923357-51923358, 51923370-51923377, 51923380-51923382, 51927332, 51944766, 51947190-51947191, 51947283, 51947310-51947337
725EFHC160.9890795631825321192352303361, 52329727, 52329733, 52329763-52329777, 52329883-52329884, 52329901
726EYS60.9976682564917922943566204750-66204764, 66205007-66205013
727RIMS160.94093325457767300507972889289, 72889472, 72889479-72889480, 72889483, 72889489-72889510, 72889589-72889618, 72892354, 72892357, 72892418, 72943524-72943526, 72945329-72945371, 72955518-72955519, 72960037-72960044, 72960146-72960163, 72960624-72960626, 72960632, 72960635-72960637, 72960983-72960984, 72967869, 72968696, 72968771-72968792, 72974678-72974708, 72975193-72975196, 72984076-72984079, 72984125-72984129, 72993763, 72993767-72993781, 73000467, 73000507-73000543, 73001674-73001697, 73001746, 73023209-73023218
728SLC17A560.9825268817204326148874304886, 74363516-74363540
729MYO660.998185588387777385876589595-76589601
730OSTM160.98308457711443171005108395713-108395714, 108395734, 108395744, 108395747, 108395752, 108395816, 108395830, 108395833-108395840, 108395855
731FIG460.937224669603521712724110037709-110037716, 110048340-110048345, 110048360, 110048400-110048428, 110048442, 110048453-110048457, 110053840-110053846, 110053867-110053890, 110056479-110056484, 110059549-110059560, 110059589, 110064329-110064331, 110064371-110064382, 110064453, 110064878-110064885, 110081467, 110083304-110083306, 110106173-110106176, 110110858-110110860, 110112691-110112718, 110118044, 110146431-110146437
732COL10A160.99412628487518122043116441900, 116442265-116442268, 116442334, 116442952, 116443069-116443072, 116446579
733LAMA260.9994659831250759363129371077, 129371103, 129371207, 129663603, 129674412
734ARG160.9669762641898932969131894432-131894459, 131894476, 131900419, 131903802-131903803
735EYA460.888541666666672141920133703536-133703579, 133767819-133767824, 133767858-133767892, 133769249-133769255, 133769265-133769282, 133777722-133777760, 133777773, 133777784-133777786, 133782287, 133782292, 133782295-133782296, 133783477, 133783500, 133783532-133783535, 133783582-133783589, 133785917-133785955, 133802716-133802719
736AHI160.9910888331941323591135644409, 135644417, 135644421, 135748383, 135754184, 135769454-135769459, 135769462, 135774543, 135777021-135777038, 135788724
737PEX760.994855967078195972137143861-137143862, 137143899, 137143903, 137143914
738PEX360.998217468805721122143792179-143792180
739SYNE160.9807153140865350926394152451875, 152532697, 152536189-152536195, 152545671-152545682, 152545718, 152552701-152552702, 152553251-152553270, 152558013, 152558075, 152558078, 152563444, 152576015-152576018, 152576058-152576074, 152576743, 152577793-152577822, 152583228-152583231, 152599335, 152599344, 152599414, 152614790, 152621836-152621862, 152623024-152623048, 152623068-152623108, 152623139-152623145, 152629624-152629629, 152629646-152629686, 152629737-152629763, 152630982, 152630990-152630994, 152631014, 152631021-152631030, 152631061, 152631085, 152631541-152631543, 152631548, 152631565, 152631579, 152631594, 152631638-152631653, 152631823-152631839, 152631856, 152631860-152631864, 152631899-152631910, 152631944-152631956, 152638067-152638070, 152639216, 152639236-152639238, 152639270, 152639324-152639372, 152639998-152640012, 152640034-152640058, 152642444-152642460, 152642486-152642496, 152642900-152642901, 152642985-152642986, 152644751, 152644754-152644755, 152650896, 152708226, 152725380, 152730726
740PARK260.98640915593705191398161771157-161771174, 161771238
741TBP60.92745098039216741020170871014-170871016, 170871040, 170871043, 170871046-170871061, 170871064-170871082, 170871084-170871100, 170871129-170871137, 170873636-170873642, 170876074
742LFNG70.671929824561437411402559496-2559717, 2559726-2559773, 2559790-2559794, 2559812, 2559818-2559842, 2559847-2559916, 2559925, 2564924, 2565330
743PMS270.8559289300888437325896017219-6017222, 6017281-6017302, 6017340, 6022485-6022491, 6026420, 6026444, 6026523, 6026617-6026618, 6026621, 6026625-6026627, 6026636, 6026653, 6026807, 6026847-6026868, 6026877-6026911, 6026956-6026962, 6027017, 6027033-6027036, 6027156-6027159, 6027165-6027185, 6029436-6029456, 6029480-6029485, 6029577-6029580, 6031654-6031670, 6038801, 6038857-6038867, 6038870-6038878, 6042084-6042098, 6042126, 6042129, 6042143-6042148, 6042151, 6042156-6042157, 6042168-6042169, 6042176-6042177, 6042205-6042206, 6042215-6042216, 6042219-6042225, 6042232, 6042241, 6042264, 6042267, 6043375-6043406, 6043644, 6043656-6043658, 6043666, 6043688-6043689, 6045523-6045533, 6045552-6045580, 6045597, 6045647-6045662, 6048628-6048650
744TWIST170.6535303776683121160919156570, 19156616-19156630, 19156660-19156662, 19156713-19156717, 19156720-19156765, 19156785-19156925
745DNAH1170.959843796050695451357221603863, 21603867, 21621550-21621553, 21621556-21621562, 21621568, 21621573, 21621583, 21627682-21627712, 21627746, 21627750-21627770, 21627774, 21627800-21627814, 21627819, 21628147-21628155, 21628214, 21628237, 21628254, 21628873-21628880, 21628889-21628961, 21628984-21629006, 21630536-21630554, 21630566-21630568, 21630604-21630640, 21630803-21630811, 21630844, 21630903-21630980, 21631046, 21631085-21631089, 21631121-21631151, 21639454-21639466, 21639514-21639538, 21639657-21639666, 21640352, 21640359-21640377, 21640719, 21641228, 21646071, 21646079, 21646125-21646135, 21646138, 21646289, 21646303-21646325, 21646333-21646351, 21856172-21856174, 21857884-21857912
746KLHL770.9869392390687123176123164732-23164754
747DFNA570.999329309188461149124758795
748HOXA1370.79948586118252234116727239261-27239284, 27239313-27239380, 27239398, 27239408-27239482, 27239489, 27239516-27239530, 27239555-27239590, 27239603, 27239616-27239628
749GARS70.9490990990991113222030640814-30640816, 30642692, 30642698, 30649201-30649213, 30649245-30649305, 30649315, 30649343-30649346, 30656813, 30661018, 30661036-30661037, 30661944-30661954, 30662041-30662047, 30662065, 30662073-30662078
750GHRHR70.999213836477991127231008482
751RP970.968468468468472166633134860, 33135003, 33136883-33136886, 33136950-33136961, 33136965-33136967
752BBS970.9906156156156225266433303962, 33312697, 33312700, 33313457, 33313461-33313467, 33313470, 33313475, 33313480, 33313490, 33313553, 33376071, 33376079, 33376109, 33376112, 33376226-33376227, 33380549, 33392481-33392482
753TXNDC370.999434069043581176737936530
754GLI370.9877714526670958474342005124, 42005215, 42005218, 42005591, 42005878-42005895, 42006013, 42063167, 42063171, 42064878-42064881, 42064890, 42064898, 42065830-42065836, 42065903-42065922
755PGAM270.99737532808399276244104431-44104432
756GCK70.9907209136331213140144186062, 44186113-44186116, 44191870-44191877
757CCM270.75805243445693323133545039933-45039962, 45113067-45113105, 45113139-45113141, 45113150-45113155, 45113158, 45113167-45113168, 45113870-45114007, 45115396-45115428, 45115447, 45115510-45115558, 45115599-45115607, 45115645-45115656
758EGFR70.9870630333058147363355086971-55086983, 55087000-55087008, 55087025, 55087032, 55087036-55087045, 55087051-55087058, 55214348, 55214382, 55220269-55220270, 55220275
759ASL70.72688172043011381139565546829, 65546944, 65547363-65547369, 65547411-65547417, 65547435-65547438, 65547893, 65548065, 65548112-65548118, 65551572-65551596, 65551731-65551752, 65551755-65551763, 65551776-65551782, 65552753-65552755, 65553812-65553849, 65553852-65553865, 65553875-65553881, 65554078-65554134, 65554146, 65554157-65554162, 65554265-65554280, 65554308-65554322, 65554603-65554649, 65554674-65554682, 65556996, 65557001-65557028, 65557056-65557073, 65557557, 65557596-65557600, 65557755-65557758, 65557794, 65557851-65557856, 65557863-65557864, 65557887-65557889, 65557893-65557899
760KCTD770.886206896551729987066094056-66094099, 66094121-66094125, 66094128-66094140, 66094153-66094158, 66094165-66094195
761NCF170.882424242424249782572640033-72640039, 72640075-72640081, 72643622-72643648, 72648669-72648703, 72648730-72648750
762ELN70.79494252873563446217573442518-73442550, 73442560-73442599, 73450892, 73452037-73452044, 73456944-73456945, 73456992-73457017, 73457355-73457356, 73457360, 73457363, 73457470, 73459580-73459581, 73462514, 73462833-73462886, 73466080-73466084, 73466123-73466163, 73466255, 73466258-73466302, 73467494-73467514, 73467554-73467563, 73467589-73467623, 73467626-73467631, 73469066, 73471986, 73471989-73471999, 73474290, 73474293-73474304, 73474307, 73474470-73474474, 73474707, 73474761, 73477640-73477646, 73477659-73477686, 73477951-73477971, 73477982-73477998, 73480276, 73480280-73480281
763NCF170.88746803069054132117374193639-74193645, 74193757-74193763, 74197303-74197329, 74197388, 74202349-74202383, 74202410-74202432, 74202995-74203026
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844CEL90.817261118450024152271135946012-135946018, 135946468, 135946479, 135946559-135946574, 135946585-135946603, 135946610-135946934, 135946944-135946950, 135946967-135946988, 135946996-135946997, 135947042-135947052, 135947057, 135947061, 135947067, 135947088
845SURF190.57475083056478384903136218768-136218775, 136218835, 136218916-136218971, 136218984-136218986, 136218991-136218997, 136219301-136219323, 136219422-136219450, 136219463, 136219549-136219564, 136220614-136220616, 136220639-136220648, 136220663-136220668, 136220673-136220675, 136220707-136220727, 136220778, 136220791-136220794, 136221532-136221538, 136221546, 136221549-136221550, 136221574-136221591, 136221703-136221727, 136221740-136221764, 136221787-136221793, 136221806, 136223124-136223175, 136223276-136223329
846ADAMTS1390.6612978524743214514284136287648, 136288227-136288236, 136289469, 136289502, 136289564, 136291166-136291182, 136291319-136291323, 136291401-136291404, 136291426-136291465, 136293754-136293891, 136295059-136295089, 136295097-136295101, 136295110-136295214, 136297709-136297743, 136297765, 136297790-136297813, 136298543-136298556, 136298623, 136298628-136298636, 136298769-136298776, 136298803-136298813, 136301949-136301969, 136301982, 136301994-136301995, 136302000, 136302018-136302064, 136302869-136302884, 136302907-136302913, 136302945, 136302957-136302970, 136302974-136302977, 136303009, 136303387-136303388, 136303400, 136303433-136303471, 136304487-136304501, 136304507-136304543, 136305489-136305530, 136305556-136305561, 136305639-136305646, 136307533-136307534, 136307538, 136307556-136307558, 136307637-136307640, 136307737-136307738, 136307758-136307792, 136307804-136307814, 136307825-136307832, 136307837, 136307843, 136307846, 136308498, 136308502-136308523, 136308614-136308648, 136310054-136310057, 136310064, 136310068, 136310072-136310096, 136310823, 136310830-136310833, 136310853-136310923, 136310933, 136313720-136313752, 136313769, 136313779-136313791, 136313796, 136313818-136313819, 136313846-136313849, 136314974-136314988, 136315058-136315086, 136319541-136319543, 136319660, 136319663, 136319687, 136319690, 136319695-136319699, 136319727-136319741, 136320407-136320408, 136320445-136320447, 136320484, 136320520-136320563, 136320589-136320614, 136320645, 136320701, 136321194, 136321202, 136321243, 136321289-136321291, 136321306-136321337, 136321709-136321712, 136321739-136321740, 136321746-136321796, 136321815, 136321821, 136321839-136321841, 136323077-136323082, 136323086-136323089, 136323103-136323131, 136323139-136323195, 136324120, 136324123, 136324173-136324202, 136324221-136324239, 136324262-136324300
847DBH90.771844660194174231854136505018-136505064, 136507557, 136509433-136509442, 136516769-136516829, 136516848-136516863, 136516867-136516882, 136516890, 136516894, 136517379-136517406, 136521648-136521688, 136521703-136521713, 136521725-136521759, 136522192-136522212, 136522222-136522287, 136522310-136522336, 136522339-136522351, 136523518-136523545
848SARDH90.791439970982955752757136529011-136529056, 136529077-136529082, 136529107-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536722, 136536741-136536819, 136550391, 136555522-136555530, 136559446-136559447, 136559460, 136559472, 136559488-136559492, 136561424, 136573412, 136584133-136584134, 136584138-136584156, 136584159
849COL5A190.907739713612475095517137534034-137534075, 137534083-137534142, 137582758-137582771, 137582803-137582847, 137582860, 137582874-137582925, 137591762, 137591835-137591877, 137591929, 137591956-137591968, 137593017-137593020, 137593052-137593079, 137593128-137593133, 137593157-137593179, 137630334, 137642388-137642462, 137642647, 137642658, 137642661-137642665, 137642668, 137642690-137642728, 137644457-137644471, 137644475, 137644482, 137645705-137645714, 137645729-137645749, 137646153, 137676924-137676927
850LHX390.93961952026468731209139089321, 139089325, 139089329-139089330, 139089337, 139089342, 139089361, 139089462, 139090800, 139090810, 139090847-139090859, 139090884-139090905, 139094815-139094842
851INPP5E90.602067183462537701935139324203-139324223, 139324730, 139324733, 139324737, 139325454-139325462, 139325500-139325517, 139326279-139326290, 139326296, 139326306-139326308, 139326407-139326420, 139326423-139326437, 139326994-139327003, 139327021-139327038, 139327411-139327413, 139327607-139327610, 139327665-139327699, 139328552-139328575, 139328579-139328581, 139329193-139329229, 139329292-139329315, 139333092-139333187, 139333217-139333239, 139333261-139333277, 139333295-139333358, 139333373-139333404, 139333411-139333430, 139333436, 139333439-139333463, 139333481-139333519, 139333536-139333540, 139333586-139333672, 139333704-139333719, 139333729-139333777, 139333788-139333794, 139333802-139333830, 139333833-139333838
852NOTCH190.6950965049556623387668139390523-139390528, 139390574, 139390611-139390651, 139390706-139390708, 139390857-139390876, 139390886-139390889, 139390900-139390947, 139391002-139391039, 139391145, 139391234-139391242, 139391262-139391291, 139391321-139391323, 139391326-139391332, 139391335, 139391391, 139391427-139391438, 139391472-139391491, 139391500-139391541, 139391546, 139391556, 139391575-139391587, 139391616, 139391620-139391627, 139391631-139391635, 139391676, 139391683-139391684, 139391706, 139391789, 139391792, 139391796, 139391828-139391830, 139391857-139391863, 139391894-139391909, 139391934-139391990, 139393602-139393605, 139393619, 139395036-139395038, 139395049, 139395097-139395138, 139395151-139395182, 139395220-139395269, 139396247-139396255, 139396297-139396303, 139396453-139396459, 139396882-139396887, 139396919, 139396931-139396940, 139399125, 139399152, 139399181, 139399211-139399220, 139399223-139399225, 139399231-139399233, 139399236, 139399257-139399286, 139399372-139399395, 139399518-139399524, 139399850-139399871, 139399890-139399897, 139399979, 139399999, 139400007, 139400077, 139400139-139400189, 139400279, 139400282-139400290, 139400322-139400333, 139401002-139401011, 139401077, 139401080, 139401175, 139401179, 139401306, 139401309, 139401352, 139401421-139401424, 139401843, 139401846-139401853, 139402701, 139402734, 139402808, 139403323, 139403344-139403346, 139403357-139403381, 139403498-139403504, 139405203-139405248, 139405604, 139405610, 139405663, 139405670-139405697, 139407475-139407551, 139407556, 139407582-139407586, 139407847, 139407853-139407856, 139407859-139407862, 139407865-139407868, 139407875, 139409021-139409067, 139409103, 139409111, 139409116, 139409131-139409142, 139409152, 139409757-139409774, 139409777-139409784, 139409796-139409829, 139409833, 139409848-139409852, 139409942, 139409945-139409954, 139410008, 139410015, 139410031-139410055, 139410066-139410085, 139410096-139410132, 139410466, 139410501, 139411724-139411750, 139411759-139411793, 139411810-139411837, 139412217-139412278, 139412288-139412291, 139412300-139412305, 139412589, 139412607-139412613, 139412616-139412625, 139412638-139412669, 139412682, 139412696-139412697, 139412726-139412744, 139413043-139413044, 139413053-139413065, 139413070-139413081, 139413136-139413164, 139413171-139413200, 139413208, 139413218, 139413244-139413276, 139413909, 139413915-139413933, 139413938-139413940, 139413953-139413954, 139413970-139413972, 139413990-139413997, 139417302-139417640, 139418169-139418431, 139438476-139438503, 139438535-139438554, 139440178-139440238
853AGPAT290.68697729988053262837139568324, 139568330, 139568344, 139571073, 139571125-139571127, 139571417-139571442, 139571458-139571487, 139571559, 139571892-139571908, 139571926, 139571942, 139571955, 139571959, 139571994-139572008, 139581628-139581673, 139581677, 139581695-139581809
854SLC34A390.715221800140127708, 140127807, 140127837, 140128085-140128086, 140128106-140128108, 140128119-140128157, 140128167-140128174, 140128315-140128393, 140128561-140128651, 140128661-140128663, 140128686-140128705, 140128871, 140128875-140128888, 140128893-140128898, 140128945-140128951, 140128960-140128961, 140128970-140128984, 140129059-140129060, 140129127-140129150, 140129154-140129156, 140130404-140130406, 140130430-140130431, 140130445-140130490, 140130517-140130520, 140130529-140130598, 140130618-140130619, 140130622-140130625, 140130634, 140130637-140130647, 140130653, 140130662, 140130666, 140130677, 140130708, 140130767, 140130772-140130773, 140130794-140130822, 140130827, 140130850-140130868
855EHMT190.827816268924816713897140513481-140513501, 140611078-140611634, 140622891-140622892, 140669586, 140671165, 140671225-140671226, 140671257-140671263, 140671288-140671290, 140672422-140672429, 140672484-140672494, 140705913-140705920, 140708902, 140728919-140728964, 140729327-140729329
856SHOXX0.65984072810011299879591633-591688, 591699-591804, 591812-591881, 595387, 595393, 595465-595469, 595492-595551
857CSF2RAX0.6996168582375539213051404688, 1404774, 1404777, 1404780-1404789, 1404810, 1407697-1407698, 1409263, 1409304, 1409322-1409330, 1413268-1413308, 1413347-1413348, 1413351-1413352, 1414341-1414347, 1419384-1419412, 1419424-1419455, 1419471, 1419498-1419519, 1422154-1422248, 1422816-1422868, 1422894-1422912, 1424339-1424365, 1424387-1424420, 1428355
858ARSEX0.950282485875718817702852909-2852952, 2853010, 2853013, 2853017-2853031, 2853091-2853101, 2853230-2853231, 2861235-2861240, 2871262-2871269
859NLGN4XX0.99918400652795224515821378, 5821699
860STSX0.991438356164381517527175320-7175326, 7175395-7175402
861KAL1X0.99608418991679820438700007-8700013, 8700052
862GPR143X0.99529411764706612759733734-9733739
863MID1X0.9720558882235556200410437773-10437803, 10437842-10437845, 10450520, 10450587, 10450644-10450646, 10450649-10450653, 10463719-10463729
864OFD1X0.997367555116818303913779301-13779308
865AP1S2X0.909282700421944347415845462-15845467, 15864047-15864063, 15870552-15870571
866RPS6KA3X0.999100314889792222320227427-20227428
867SMSX0.995458673932795110121958987-21958991
868PHEXX0.98436225022237191-22237201, 22239732-22239738, 22239775-22239782, 22239839-22239846, 22245677-22245678
869ARXX0.9425695677915997168925031220-25031222, 25031423-25031428, 25031435, 25031447-25031449, 25031486-25031493, 25031527, 25031530-25031549, 25031582-25031592, 25031643-25031667, 25031670, 25031673, 25031715-25031721, 25031777-25031779, 25031892-25031898
870DMDX0.99900524507144111105831697510-31697517, 31697556-31697557, 31697560
871RPGRX0.83636889274357566345938145186-38145200, 38145204-38145205, 38145253-38145631, 38145649, 38145659-38145753, 38145756-38145758, 38145761-38145766, 38145769-38145795, 38145887-38145903, 38145911, 38145925-38145944
872TSPAN7X0.977333333333331775038525375-38525379, 38546906-38546917
873NYXX0.88035961272476173144641332750, 41332842-41332849, 41332956, 41333224-41333233, 41333317-41333323, 41333356-41333390, 41333401-41333407, 41333502-41333514, 41333542, 41333662-41333682, 41333708-41333726, 41333881-41333906, 41333954-41333977
874MAOAX0.9463383838383885158443572004-43572009, 43590559-43590566, 43591960-43591999, 43603617-43603637, 43603680-43603689
875RP2X0.995251661918335105346739162-46739166
876PORCNX0.9906204906204913138648370757-48370759, 48370804-48370807, 48371015, 48371025, 48371036, 48371039-48371041
877SYPX0.99363057324841694249050813-49050818
878CACNA1FX0.97152005392653169593449064975, 49065080-49065094, 49065747-49065762, 49065777-49065780, 49065783, 49065789, 49066452-49066462, 49066777-49066784, 49067080-49067120, 49067134-49067146, 49067445-49067448, 49067507-49067515, 49067782-49067783, 49067868-49067889, 49074965-49074968, 49075860-49075861, 49076195-49076203, 49076219-49076224
879FOXP3X0.9652777777777845129649107795-49107798, 49107804, 49108197-49108204, 49110490-49110492, 49112192-49112194, 49113465-49113469, 49114788-49114794, 49114910-49114923
880KDM5CX0.9972240017083113468353231036-53231042, 53243965, 53244025-53244029
881FGD1X0.9979209979216288654494255-54494260
882ARX0.996742671009779276366765159-66765167
883TAF1X0.97008095740936170568270586172-70586220, 70586304-70586329, 70595017-70595033, 70595072-70595119, 70597583-70597587, 70597655-70597664, 70601745-70601756, 70674591-70674593
884PHKA1X0.9940087145969522367271830907-71830910, 71856229-71856234, 71864337-71864344, 71915611-71915614
885ATRXX0.9986629228506510747976938074-76938082, 76938111
886BRWD3X0.9896468848215956540979974988-79975006, 79975031-79975040, 79975065-79975067, 79978273-79978278, 79979255-79979257, 79979313-79979322, 79980499-79980502, 79984263
887COL4A5X0.99228944246738395058107802306, 107802344, 107802347-107802357, 107802367, 107807142-107807145, 107840228, 107840634-107840649, 107840727-107840730
888UPF3BX0.98347107438017241452118968841-118968857, 118968912-118968917, 118968939
889CUL4BX0.883296863603213202742119663964-119663974, 119664016-119664030, 119666283-119666290, 119668374, 119669704-119669706, 119670854-119670859, 119671979-119672021, 119672553-119672559, 119673123-119673128, 119673168-119673172, 119674225-119674230, 119674289-119674314, 119674329, 119674339-119674346, 119675478-119675479, 119675527-119675540, 119676835-119676839, 119676869-119676888, 119677627-119677638, 119677969-119677983, 119678057-119678058, 119678378-119678385, 119679349, 119680994-119680999, 119691827-119691828, 119691859-119691867, 119691879, 119691889-119691894, 119694218-119694244, 119694283-119694316, 119694323-119694327, 119694334-119694338
890XIAPX0.95917001338688611494123019608, 123019611-123019634, 123019673-123019675, 123019716-123019727, 123019846-123019860, 123020131-123020136
891ZIC3X0.98931623931624151404136651129-136651143
892MTM1X0.99227373068433141812149840003, 149840010-149840011, 149840015-149840018, 149840024-149840030
893FAM58AX0.98911564625858735152864496, 152864501, 152864514-152864519
894SLC6A8X0.895702306079661991908152954030-152954203, 152954246-152954270
895L1CAMX0.99205087440382303774153130754-153130757, 153134396, 153135511-153135515, 153135880-153135882, 153135901-153135905, 153136584-153136586, 153136590-153136594, 153141237-153141240
896MECP2X0.95858383433534621497153296088-153296097, 153296207-153296210, 153296214, 153296221, 153296377, 153297873-153297879, 153363061-153363098
897OPN1LWX0.9990867579908711095153424395
898OPN1MWX0.98264840182648191095153453279-153453285, 153455598, 153455667-153455675, 153458979, 153461525
899OPN1MWX0.96986301369863331095153490455-153490461, 153492704, 153492708, 153492716, 153492785-153492795, 153496097, 153496101-153496109, 153496121, 153498643
900FLNAX0.982250755287011417944153580685-153580689, 153581429, 153581457-153581468, 153581477, 153581705-153581741, 153581771-153581778, 153583013, 153583020, 153583025, 153585823, 153587878, 153588102, 153588113-153588116, 153588235-153588246, 153588396-153588403, 153588423, 153588627-153588646, 153588651, 153588826-153588827, 153588840-153588842, 153588853-153588865, 153588906, 153589782, 153599485-153599489
901G6PDX0.95115995115995801638153760258-153760277, 153760631, 153760634-153760635, 153760639, 153760645-153760646, 153761339-153761343, 153761820, 153761877-153761884, 153763387-153763397, 153763519, 153764180-153764189, 153764192-153764194, 153764356-153764359, 153775022-153775032
902IKBKGX0.98224043715847261464153770556-153770579, 153784520-153784521
903F8X0.99574829931973307056154189362-154189367, 154221391-154221399, 154225249-154225253, 154225299-154225306, 154227836-154227837
904MTCP1X0.996913580246911324154294253
905USP9YY0.997261345852921766814898713-14898733
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2TLR5-F616Lhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
2TLR5-R392*homozygous0.044Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
2TLR5-Q181Khomozygous0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
2TGIF1-P83Shifthomozygous0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
2TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R4270Thet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S3801Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TERT-H412Yhet unknown0.003Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.978 (probably damaging), Testable gene in GeneTests with associated GeneReview
2TERT-V56Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TBX22-E187Khomozygous0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
2SCNN1G-E197Khet unknown0.006Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5RPGRIP1L-A229Thet unknown0.056Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.101 (benign), Testable gene in GeneTests with associated GeneReview
1.5OPTN-M98Khet unknown0.061Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
1.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5PRF1-A91Vhet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5CHRNA5-D398Nhomozygous0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5BANK1-R61Hhomozygous0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5FUT6-E247Khomozygous0.128Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
1.5FUT6-P124Shomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
1.125SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1.125SERPINA1-E288Vhet unknown0.030Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1.125PEX2-W250Rhet unknown0.008Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.125PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
1PTCHD3-C407Ghomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1PTCHD3-S309Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ERCC6-S797ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-D5ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-C104Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GBE1-T507Ahomozygous0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CELA1-L210Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-A206Vhomozygous0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GJB2-G12Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-E2Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DSP-I305Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SEPT9-P145Lhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CEP290-R1746Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.871 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.062Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ITGA7-R279Hhomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CSNK1A1L-R170Shomozygous0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
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
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-I338Thet unknown0.038Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), 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
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-C469Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
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
1ENTPD2-A103Vhomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
1ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALK-A1280Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ALK-V476Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCG2-Q141Khomozygous0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DOCK8-A22Vhomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
1DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
1DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
1DOCK8-A597Vhomozygous0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
1C5orf20-S135Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
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
1MSH4-Y589Chomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CXorf59-R424ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TEX13B-Q128*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ITIH5L-W1041Shomozygous0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1OPN1MW-M153Lhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1SSX1-F101Chomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1POLG-Q1236Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1FAM83E-P311Lhomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1FAM83E-T91Ahomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC11-G180Rhet unknown0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SPTB-E525Khomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GSTM1-K173Nhomozygous0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1ALG3-I107Vhomozygous0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), 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
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.75STRC-T1709Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75STRC-R1524Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75STRC-E1435Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75STRC-Q1353*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75UNC13D-Q35Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75UNC13D-Q9Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.75SDHC-S151Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ACSM5-K25Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM5-H360Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACSM5-D449Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM5-D455Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM5-R481Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRTAP4-8-A168Thomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP4-8-C30*het unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KRTAP4-8-P27Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNC3-D63Ghomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYPD4-T184Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhomozygous0.130Unknown
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
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LTBP4-V194Ihomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-R635Ghet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LTBP4-T787Ahomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-T820Ahomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-T1140Mhet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2B6-R487Chet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
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-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HS1BP3-A388Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5HS1BP3-P348Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5HS1BP3-V260Mhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SULT6B1-R143Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-L112Fhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SULT6B1-K50Ehet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-V37Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SULT6B1-A23Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-T725Phomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF432-R533Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5TNNT1-E12Ghet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-A190Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001144950-A159Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001144950-G536Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001144950-T699Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001144950-L976Phomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001144950-M1274Ihomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001144950-H1288Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001144950-M1303Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001144950-P1305Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001144950-P1311Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001144950-T1315Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001144950-P1319Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001144950-H1324Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCG2-R268Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLFN13-E652Khomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN13-S235Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5CARD14-R547Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CARD14-R682Whet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CARD14-R820Whet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.854 (probably damaging)
0.5CACNG1-G196Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-S1634Ghomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZPBP2-P68Ahet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5GOSR2-P3Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERBB2-I655Vhomozygous0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-R102Khomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FCHO1-R186Qhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5LRRC50-E432Dhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L539Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF781-T97Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5PRODH2-R525Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging), Testable gene in GeneTests
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC130-S22Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RAI1-A253Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC42-A144Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-R3Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-F3122Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2C8-K399Rhet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5PCDH15-G385Shomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-L243Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBAL3-R250Whet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
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)
0.5CUBN-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-S1935Ghet unknown0.145Unknown
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
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL17A1-A1435Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-C494Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTBD16-R318Qhomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTBD16-H439Phomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTBD16-Q472Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging)
0.5ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-V1572Ihet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RRP15-K149Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5LEPR-K109Rhomozygous0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5LRRIQ3-A558Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-A255Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRIQ3-M129Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.819 (possibly damaging)
0.5GBP1-S213Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STIL-H985Rhomozygous0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.600Unknown
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
0.5AK2-A209Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5A3GALT2-T106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPM1J-I291Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PPM1J-V236Ihomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PPM1J-L213Fhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5ASPM-R1729Whet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5LAMB3-M852Lhomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMF1-Q75Rhomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMF1-M137Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5PMF1-R150Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FMO3-V257Mhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO3-G330Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FMO3-EV460DFhet unknownUnknown
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
0.5ALG8-N222Shomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PYGL-I806Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYH6-V1613Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-Q1593Lhet unknown0.019Unknown
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
0.5LRRC16B-E1002Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRC16B-G1161Vhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PAK6-C198Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
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
0.5UBE3A-A201Thet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAGEL2-L448Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACOT4-R57Chet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.346 (possibly damaging)
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
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5LIG4-T9Ihomozygous0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5CLYBL-I241Vhomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5CLYBL-R259*het unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5LRRK2-R50Hhomozygous0.964Unknown
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
0.5COL2A1-T9Shomozygous0.791Unknown
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
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM181B-R367Phet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM181B-P340Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5FAM181B-S251Rhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.774 (possibly damaging)
0.5FAM181B-V186Lhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTMR2-K3Thomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-R2066Chet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2153Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGGT2-N1268Yhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGGT2-S328Ahomozygous0.854Unknown
not reviewed
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
0.5B3GALTL-G369Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-A694Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CENPJ-S879Ahomozygous0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLB1-S532Ghet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-P10Lhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB11-P449Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCG8-T400Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NNT-K63Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5NNT-L663Fhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.809 (possibly damaging)
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-I207Vhomozygous0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SH3TC2-A468Shomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-L589Qhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CMAH-V478Ahet unknown0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-R310Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-N272Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CMAH-R241Whet unknown0.078Unknown
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
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIF4B-R580Lhomozygous0.781Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF4B-Y684Chet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NIPAL4-S453Lhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5HMMR-R333Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HMMR-V369Ahet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HMMR-A485Vhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5HK3-G246Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5OSMR-G578Dhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-L121Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-I258Nhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-K303Rhet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-M332Thet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPA1-A210Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNK2-R1086Hhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IQCF2-R4Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5FLNB-D1157Nhomozygous0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABHD10-I251Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA1407-R374Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYTL1-R136Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CLNK-P31Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5DNAH5-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
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CC2D2A-E229Delhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-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
0.5VPS13B-Q1170Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-S2397Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC30A8-R325Whomozygous0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RRS1-R191Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TEX15-S1990Nhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TEX15-G1840Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5MCPH1-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
0.5SFTPC-T138Nhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-S186Nhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
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-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PSCA-W118*het unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-P155Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM83H-P637Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FAM83H-Q201Hhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF212-H293Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-C1395Yhomozygous0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
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-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MTHFD1L-R563Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRIM2-E181Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-L286Phomozygous0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y287Chomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H289Rhomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-N298Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRIM2-C302Rhomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G304*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRIM2-V310Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-V310Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-T323Ahomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Q325*het unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRIM2-D342Ghet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y345Chet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-R349Chet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G434Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP49-D636Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLIC5-P257Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.915 (probably damaging)
0.5PKHD1-E2001Khet unknownUnknown
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
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SERAC1-F47Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A1-G401Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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-A3474Thomozygous0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5THSD7A-R841Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5THSD7A-D771Ehet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5THSD7A-N583Dhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
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-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-G545Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFV3-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
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.5CCDC116-R96Chet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5CCDC116-R122Whet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5CCDC116-R199Whet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CCDC116-R325Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.805 (possibly damaging)
0.5CCDC116-C519Rhomozygous0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2361Rhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC148-K329Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC148-Y307Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5CCDC148-Q290Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC148-M157Vhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AGXT-I340Mhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NINL-R1276Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-WE958Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NINL-R276Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.084 (benign)
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5CRNKL1-T158Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRNKL1-Q111Hhet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CRNKL1-F51Lhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.497 (possibly damaging)
0.5CRNKL1-Q50*het unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CRNKL1-G35Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGA6-A380Thomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-M4512Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GTSF1L-L56Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTN-T33020Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E32983Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K32905Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S20650Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K20009Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K20009Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhomozygous0.224Unknown
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-G1345Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A2960Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhomozygous0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FSHR-A307Thomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MSH6-G39Ehet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1103Dhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYSF-G129Ehet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MERTK-S118Nhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITPR1-M769Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.59 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SGSM3-W20Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging)
0.5VWA3B-D1223Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
0.5VWA3B-R1245Khomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LHCGR-N312Shomozygous0.490Unknown
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
0.375SCN1A-T1163Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO15A-A595Thet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-C1977Rhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-G2018Rhet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-Q3180Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375COL11A2-G113Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CFTR-R31Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.375CLDN16-FFS84CLAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLEC-R2045Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PLEC-A641Vhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IGHMBP2-L339Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IGHMBP2-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-K493Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-M510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPTBN2-S825Ghomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPTBN2-E101Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25C7orf23-C108Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C7orf23-C108Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CPO-S134Rhet unknown0.493Unknown
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
0.25OR8U8-H20Rhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-V91Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OR8U8-I109Vhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-IS109TAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153YSIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-R165Chet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S223Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-H229Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMA2-M2276Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIPA-G23Rhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NR_026750-H264Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_026750-L449Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO9B-S1011Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO9B-V1693Ahomozygous0.484Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF429-H527Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF429-H650Yhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC35C1-I227Vhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP4-L1836Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRP4-R1646Qhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP4-S1554Ghet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP4-I1086Vhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP4-R373Whet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOSTRIN-N191Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOSTRIN-G473Ehomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO3A-R319Hhet unknown0.488Unknown
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
0.25PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPPK1-R2215Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPPK1-D2213Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPPK1-LM2210VThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPPK1-L248Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EPPK1-D202Nhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CU676018-L153Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CU676018-N164Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CGN-G715Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CGN-R717Whet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25THADA-C1605Yhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.25THADA-T1385Shet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THADA-T1187Ahet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25PKHD1L1-I164Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.531 (possibly damaging)
0.25PKHD1L1-Y440Hhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.25PKHD1L1-H923Rhomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKHD1L1-T1192Ahet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25PKHD1L1-R1514Shomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKHD1L1-Y1638Chet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.25PKHD1L1-V1965Lhomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PKHD1L1-L2358Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKHD1L1-H3050Qhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKHD1L1-V4220Ihet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25NES-V815Ihomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.055 (benign)
0.25NES-V130Ahet unknown0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NES-V130Ahet unknown0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF746-G497Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF746-PD479RGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-C1114Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-R1092*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MLL3-M689Ihomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MLL3-L687Fhomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CREB3L2-Y318Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CREB3L2-V130Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TDRD5-L275Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TDRD5-S511Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T22Ihet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM55D-I315Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM55D-L177Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGA-T331Ahet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25C17orf57-R211*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C17orf57-V312Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL1A1-T1075Ahet unknown0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPS6KL1-R205*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25RPS6KL1-P121Lhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25RPS6KL1-R21Qhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25TMPRSS3-I253Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK7-R102Qhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.202 (possibly damaging)
0.25AK7-F149*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK7-N389Khomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT10-H487Yhomozygous0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-G126Shet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTPN13-P286Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PTPN13-Y2086Dhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25C17orf82-P182Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C17orf82-L186Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC37A3-D1544Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRRC37A3-V1484Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC37A3-R1363Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC37A3-S1339Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC37A3-S1301Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC37A3-M1292Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC37A3-I1087Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCAM2-L350Phet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NCAM2-T794Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25THBS4-G6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25THBS4-A387Phet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25TLK2-K635Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TLK2-R724Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25PKD1L2-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-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-S1155Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1042Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L1036Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-A863Vhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
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-V183Ihet unknown0.192Unknown
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-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCF20-M405Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
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
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-G713Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ADAMTSL3-L869Fhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25SUZ12-S200Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-G258Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-N277Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SUZ12-R286*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SUZ12-N698Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SYNM-WAT76CVLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SYNM-E84Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SYNM-V271Ahet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SYNM-V329Ihet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HTR3E-A86Thet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HTR3E-P357Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.25NOS2-EIHLTVAVVT920PNHLTVAVLMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOS2-R687Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOS2-D685Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOS2-R221Whet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.637 (possibly damaging)
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25KLRC1-R179Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KLRC1-N29Shomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MRPS35-G43Rhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MRPS35-E254Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MRPS35-N255Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.25TULP1-T67Rhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C12orf35-L250PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf35-S352Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf35-S518PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf35-E938Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C12orf35-S1208Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CUL7-Q813Rhet unknown0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-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
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DOCK6-P250Lhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOCK6-R145*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMH-S49Ihet unknown0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AMH-S49Ihet unknown0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-V887Ahet unknown0.192Unknown
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
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MSX2-M129Thet unknown0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRSF9-Q207*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SRSF9-S197Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SRSF9-R194Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TMEM132D-T207Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM132D-H12Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T204Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
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
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25GRP-R4Shomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GRP-R141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0CCR5-S185Shifthet unknown0.048Recessive
protective
Insufficiently evaluatedPrioritization score: 2
Frameshift
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0PEX1-I696Mhet unknown0.027Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0TNFRSF13B-T241Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0EHMT1-Q1282*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,707,271,744 bases (94.7% of callable positions, 87.9% of total positions)

Coding region coverage: 31,493,028 bases (94.6% of all genes, 95.4% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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