CN103468708A - Pathogenic genes of schizophrenia and application - Google Patents

Pathogenic genes of schizophrenia and application Download PDF

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Publication number
CN103468708A
CN103468708A CN2013104173700A CN201310417370A CN103468708A CN 103468708 A CN103468708 A CN 103468708A CN 2013104173700 A CN2013104173700 A CN 2013104173700A CN 201310417370 A CN201310417370 A CN 201310417370A CN 103468708 A CN103468708 A CN 103468708A
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exonic
nonsynonymous snv
snv
utr3
nonsynonymous
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陈刚
陈星�
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Abstract

The invention relates to the technical field of genes, and particularly relates to pathogenic genes of schizophrenia, which are as shown in sequences 1-1280 in sequence tables, gene-coded proteins in any sequence table of the sequence tables, and genes in any sequence table of the sequence tables as target positions for detecting probes or primers. Gene mutation leading to schizophrenia is determined through screening, the investigative basis and direction for further developing methods and medicines for treating schizophrenia are provided, and the pathogenic genes have epoch-making meaning in the history of research and treatment of human diseases.

Description

Schizophrenia Disease-causing gene and purposes
technical field
The present invention relates to the gene engineering field, particularly schizophrenia Disease-causing gene, also relate to the purposes of described schizophrenia Disease-causing gene.
background technology
The schizoid cause of disease is relevant with heredity, and take inharmonious mutually between thinking, emotion, behavior is feature, and its morbidity is about 1%, has seriously restricted social stability and development.Its clinical manifestation is with thinking, emotion, and conduct disorder is main, often abnormal with sensory perception.Schizoid morbidity generally is about 0.55%, this is (as: China 0.413% relevant to control time and object also, the U.S. 0.51%, somewhere, London 5.3%, Palau 1.99% New Zealand 0.97%, Spain 0.30%, Ireland 0.39%), this difference may come from its Disease-causing gene frequency time, region, ethnic group and with the difference of environmental interaction.
1. 1985 ﹚ such as ﹙ such as family line investigation Tsuang Deng contrast the be a cup too low first degree relative of surgery patients of symptom of 332 routine schizophreniacs' first degree relative and 318 examples, the former first degree relative morbidity is 3.7%+0.7, and the morbidity of latter's first degree relative only has 0.2%+0.2.2. twin study Onstad S (1991) contrasts suffering from schizoid 31 pairs of monovular twinses and 28 pairs of non-identical twinses, find that the concordance rate of monovular twins is 48%, and the concordance rate of non-identical twins is only 4%.3. to have contrasted 47 routine breeder mother be schizophrenia to adoptee study Heston (1966), foster child with the spiritual normal father and mother of 50 example, give birth to and just separate with father and mother in latter one month, and after growing up, front group has 5 routine schizophrenia, 4 routine amentias, 22 routine morbid personalities; And control group only has 9 routine morbid personalities, Split disease and mentally deranged are a cup too low.
Above-mentioned a large amount of family line investigation, twins and adoptee study, result all shows that the schizophrenia cause of disease is closely related with gene, shows as the polygenic inheritance pattern.But in prior art, do not have relevant article or patent, disclose the Disease-causing gene relevant to schizophrenia, for detecting and treating, provide reference.
summary of the invention
In order to solve in above prior art the problem that there is no the record of schizophrenia related genes, the invention provides a series of Disease-causing genes relevant to schizophrenia.
The present invention also provides the purposes of above-mentioned schizophrenia Disease-causing gene.
The present invention is achieved by the following measures:
The schizophrenia Disease-causing gene, is characterized in that as shown in sequence 1-1280 in sequence table.
Take sequence 1 as example, and in the description sequence table, each numeral and English implication meaned are as follows:
The chr1:63881552(starting point) 63881552(terminal) rs4630153(single nucleotide polymorphism numbering) exonic(exon) nonsynonymous(missense mutation) the single nucleotide diversity of the SNV() numbering in NM_013339(Gen Bank): the 911st base of c.C911T(makes a variation into T by C): the 304th amino acid that p.S304F(is corresponding is F by the S variation).
In sequence table, in each sequence, according to above-mentioned rule, edited, although do not meet the regulation in " Nucleotide and or aminoacid sequence table and sequence table electronic file standard ", but in order to reduce length and to be beneficial to examination, the inventor thinks the mode of writing of above-mentioned sequence table, also be enough to show the feature of each sequence table, convenient auditor's examination.
The protein of the genes encoding of arbitrary sequence table in sequence table.
In sequence table, the gene of arbitrary sequence table is as the target position of detection probes or primer.
Nucleic acid described in the application sequence table is as probe or the primer detection of biological product that imitate, or the primer pair of the Application Design fragment that becomes will obtain after amplification to comprise this sudden change step that increases this biological sample and detected.
A kind of method of screening or assessment medicine, comprise carrying the cell of the described mutator gene of any one in sequence table, tissue, organ or animal individual give one or more medicines, and assess the index of its one or more indicative spirit Split disease situations, with indication amelioration of disease situation.
Disease-causing gene is a kind of resource, all significant to the gene diagnosis of disease, prevention, drug target exploitation, gene therapy etc.And the gene patent rush-register is the international war of a cruelty, gene patent means huge economic benefit, is " ground that must take by force " of each country.There is population more than 1,400,000,000 in China, and wherein the schizophreniac is nearly up to ten million, has had a strong impact on national development and social stability, clones schizoid tumor susceptibility gene, improves people ' s health, no matter be present or future, meaning is all very great.
Beneficial effect of the present invention:
By examination, determined and caused schizoid transgenation, for the schizoid method of next step development treatment and drug provision basis and the direction of research, on manpower disease research treatment history, be with historically new significance.
Embodiment
As shown in sequence 1-1280 in sequence table, provided with the close karyomit(e) of the schizophrenia degree of correlation in missense mutation, disappearance or the insertion mutation of exon.
Whole-genome association research (whole genome association study WGAS): the chain and association analysis of full genome, by the complete genomic genetic marker of a set of covering, survey with tumor susceptibility gene family or colony be divided into from, it is a kind of objective method, not take any hypothesis as support, be still one of current main method to pathogenic related gene identification, evaluation.Shandong Province governments in 2011 have adopted our suggestion, finally " mental disorder Disease-causing gene location and clone technology " have been listed in to Shandong Province " 12 " scientific and technical development program outline; For this class multigenic disease of schizophrenia, full genome scanning (genome scanning) in advance normally; The disease-related site is positioned to certain zone of karyomit(e), and then row candidate gene strategy or linkage disequilibrium analysis, determine the Disease-causing gene site.Gone through extremely hard and bitter unremitting effort of more than ten years, we use ABI Linkage Mapping Set version 2.5 full genome microsatellite genetic markers (400 site), with Affymetrix Genome-Wide Human SNP Array 6.0 high-density gene chips (906, 600 SNP sites) 986 routine schizophrenia have successively been completed in conjunction with DNA blending means (DNA pooling technology), 124 chronic schizophrenias, 119 routine isolated crowd schizophrenia, 89 routine family childhood schizophrenias, the whole-genome association of 92 routine childhood schizophrenias, found a series of associated gene.
The exon order-checking: exon order-checking (also claiming target exon group to catch) refers to and utilizes the sequence capturing technology to carry out the genome analytical method of high-flux sequence after full genome exon 1 domain dna seizure enrichment.Be a kind of efficient strategy of encoding sequence of Select gene group, SNP, the Indel etc. that study known are had to larger advantage.Exon (expressed region) is the part of eukaryotic gene, and it still can be saved after montage (Splicing), and can in the protein biosynthetic process, be expressed as protein.Exon is the gene order finally appeared in mature rna, claims again expressed sequence.Both be present in initial transcription product, also be present in the nucleotide sequence in ripe RNA molecule.In Human genome, nearly 180,000 exons, account for 1% of human genome, about 30MB.We have selected these patients of the typical schizophreniac that 30 examples are in hospital (in contrast simultaneously with 30 routine normal peoples) and have all possessed the typical case, and heavy type is chronic, and spiritedness schizophrenic patients in first degree relative.Meanwhile, selected whole members of two schizophrenia high density families, these samples have been carried out to full genome exon order-checking.Finally, system, comprehensively, analyzing of contact, reside in the principle among individual character with reference to general character, analyzed the result of our all schizophrenia associated genes and the mutator gene of the discovery that exon checks order, found out the change of the common gene of Shandong Province's schizophrenia and these genes and dash forward and apply for gene patent.The present invention relates to the new mutant of some schizophrenia Disease-causing genes, and they,, at schizophrenia diagnosis, treat in the future, drug target design, Prenatal Screening, the purposes of the aspects such as prenatal and postnatal care.
<110 > Chen Gang
<120 > schizophrenia Disease-causing gene and purposes
<160>1280
<212>DNA
<213 > people
no. 1 karyomit(e) of chromosome 1()
63881552-63881552 rs4630153 exonic nonsynonymousSNV，NM_013339:c.C911T:p.S304F
92428495-92428495 rs10783071 exonic nonsynonymousSNV，NM_001242806:c.C184A:p.Q62K
92442695-92442695 rs1156281 exonic nonsynonymousSNV NM_001242807:c.A576C:p.K192N
92457843-92457843 rs10747493 exonic nonsynonymousSNV NM_001242807:c.C1949T:p.P650L
67558756-67558756 rs41313272 exonic nonsynonymousSNV NM_001013674:c.G1135A:p.E379K
67560956-67560956 rs11208997 exonic nonsynonymousSNV NM_001013674:c.G565A:p.V189I
67561090-67561090 rs72933970 exonic nonsynonymousSNV NM_001013674:c.A431G:p.Q144R
67581127-67581127 rs2273682 exonic nonsynonymousSNV NM_001013674:c.A254G:p.E85G
75036812-75036812rs9326116exonic nonsynonymous SNV NM_001002912:c.G4582A:p.V1528M
75038228-75038228rs11580409exonic nonsynonymousSNV NM_001002912:c.T3166G:p.L1056V
75055741-75055741rs74513893exonic nonsynonymous SNV NM_001002912:c.T1750G:p.S584A
75055419-75055419 rs2305549exonic nonsynonymous SNV NM_001002912:c.A2072G:p.H691R
55271845-55271845 rs72895754 exonic nonsynonymous SNV NM_001110533:c.C56T:p.T19M
55277599-55277599 rs600499 exonic nonsynonymous SNV NM_001110533:c.T613C:p.Y205H
55280690-55280690 rs75191355 exonicnonsynonymousSNV NM_001110533:c.G1028A:p.C343Y
55307332-55307332 rs74642512 exonic nonsynonymous SNV NM_152607:c.G1228T:p.G410C
201016296-201016296 rs3850625exonic nonsynonymous SNV NM_000069:c.C4615T:p.R1539C
103354138-103354138 rs1676486 exonic nonsynonymous SNV NM_080630:c.T4255C:p.S1419P
103379918-103379918 rs3753841 exonic nonsynonymous SNV NM_080630:c.C3620T:p.P1207L
103444970-103444970rs141548164exonic nonsynonymous SNV NM_080630:c.T2230A:p.F744I
103491461-103491461 rs12731843 exonic nonsynonymous SNV NM_080629:c.A828C:p.K276N
34038214-34038214 rs2641962 exonic nonsynonymous SNV NM_052896:c.A7660G:p.M2554V
3409075134090751 rs35761029exonic nonsynonymous SNV NM_052896:c.A5280T:p.E1760D
34238283-34238283 rs474474 exonic nonsynonymous SNV NM_052896:c.A1613G:p.H538R
34071525-34071525 rs1874045 exonic nonsynonymous SNV NM_052896:c.G6287A:p.R2096K
33979880-33979880 rs11333218 UTR3 - T
33981917-33981917 rs112990781 UTR3 - ACAC
70904800-70904800 rs1021737 exonic nonsynonymous SNV NM_001190463:c.G1112T:p.S371I
202935911-202935911 rs2232842 exonic nonsynonymous SNV NM_016243:c.A131G:p.N44S
202935911-202935911 rs2232842 exonic nonsynonymous SNV NM_016243:c.A131G:p.N44S
231830295-231830295rs3738401exonicnonsynonymous SNV NM_001012957:c.G791A:p.R264Q
172381181-172381181 rs35335757 UTR3 - TG
172381181-172381181 rs35335757 UTR3 - TG
97981395-97981395 rs1801159 exonic nonsynonymous SNV NM_000110:c.A1627G:p.I543V
98348885-98348885 rs1801265 exonic nonsynonymous SNV NM_000110:c.C85T:p.R29C
79357360-79357360 rs2275902 exonic nonsynonymous SNV NM_022159:c.C1859G:p.A620G
79392756-79392756rs12754818 exonic nonsynonymous SNV NM_022159:c.G898T:p.V300L
79356180-79356180 rs78577530 UTR3 T -
216678796-216678796 . UTR3 T -
152276149-152276149rs77422831exonicnonsynonymousSNV NM_002016:c.G11213A:p.R3738H
152276699-152276699rs3126076 exonic nonsynonymousSNV NM_002016:c.T10663C:p.W3555R
152276772-152276772 rs72697000exonic nonsynonymousSNV NM_002016:c.G10590T:p.R3530S
152277055-152277055 rs2065955exonic nonsynonymousSNV NM_002016:c.G10307C:p.G3436A
152277137-152277137 exonic stopgain SNV NM_002016:c.C10225T:p.R3409X
152279729-152279729 rs3126072 exonic nonsynonymousSNV NM_002016:c.G7633A:p.G2545R
152279841-152279841 rs3126074 exonic nonsynonymousSNV NM_002016:c.C7521G:p.H2507Q
152279920-152279920 rs55650366exonic nonsynonymousSNV NM_002016:c.T7442C:p.L2481S
152280032-152280032 rs71625200exonic nonsynonymousSNV NM_002016:c.A7330G:p.K2444E
152280170-152280170 rs71625201exonic nonsynonymousSNV NM_002016:c.G7192C:p.E2398Q
152280471-152280471 rs78179835exonic nonsynonymousSNV NM_002016:c.G6891C:p.E2297D
152280736-152280736 rs78974621exonic nonsynonymousSNV NM_002016:c.A6626G:p.H2209R
152280900-152280900 rs74129452exonic nonsynonymousSNV NM_002016:c.A6462C:p.Q2154H
152281007-152281007 rs7512553 exonic nonsynonymousSNV NM_002016:c.T6355C:p.Y2119H
152281039-152281039 rs7522925 exonic nonsynonymousSNV NM_002016:c.C6323T:p.A2108V
152281228 -152281228 rs7546186exonic nonsynonymousSNV NM_002016:c.G6134C:p.S2045T
152281304-152281304 rs7512857 exonic nonsynonymousSNV NM_002016:c.T6058G:p.S2020A
152281479-152281479 rs3126079 exonic nonsynonymousSNV NM_002016:c.C5883A:p.H1961Q
152281690-152281690 rs12407748exonic nonsynonymousSNV NM_002016:c.G5672A:p.R1891Q
152281948-152281948 rs12405241exonic nonsynonymousSNV NM_002016:c.C5414T:p.A1805V
152282267-152282267 rs12405278exonic nonsynonymousSNV NM_002016:c.C5095T:p.R1699C
152282311-152282311 rs12407807exonic nonsynonymousSNV NM_002016:c.G5051A:p.R1684H
152282917-152282917 rs11204978exonic nonsynonymousSNV NM_002016:c.C4445A:p.S1482Y
152283236-152283236 rs11581433exonic nonsynonymousSNV NM_002016:c.A4126G:p.R1376G
152283283-152283283 rs11586631exonic nonsynonymousSNV NM_002016:c.G4079A:p.R1360H
152283862-152283862 rs58001094exonic nonsynonymousSNV NM_002016:c.C3500G:p.A1167G
152285099-152285099 rs74129461exonic nonsynonymous SNV NM_002016:c.G2263A:p.E755K
152285930-152285930 rs11584340exonic nonsynonymous SNV NM_002016:c.C1432T:p.P478S
152286002-152286002 rs2011331 exonic nonsynonymous SNV NM_002016:c.A1360G:p.T454A
152286032-152286032 rs11588170exonic nonsynonymous SNV NM_002016:c.G1330A:p.G444R
152286367-152286367 rs41267154exonic nonsynonymous SNV NM_002016:c.G995T:p.G332V
152275453-152275453 rs3814299 exonic nonsynonymousSNV NM_002016:c.C11909T:p.S3970L
152277704-152277704 exonic nonsynonymousSNV NM_002016:c.G9658C:p.D3220H
152281523-152281523 rs80059102exonic nonsynonymousSNV NM_002016:c.T5839G:p.W1947G
152281534-152281534 rs113544881exonicnonsynonymousSNV NM_002016:c.T5828A:p.L1943H
152280782-152280782 rs2184953 exonic nonsynonymousSNV NM_002016:c.T6580C:p.Y2194H
152280788-152280788 rs66954353exonic nonsynonymousSNV NM_002016:c.A6574C:p.K2192Q
152284853-152284853 rs76413899exonic nonsynonymous SNV NM_002016:c.G2509A:p.G837S
210577884-210577884 rs2294851 exonic nonsynonymousSNV NM_001170587:c.G548A:p.S183N
210848807-210848807 rs149711601 UTR3 - T
41976328-41976328 rs9439043exonic nonsynonymous SNV NM_001127714:c.A7012G:p.T2338A
41978566-41978566rs2991344exonic nonsynonymous SNV NM_001127714:c.A6326C:p.D2109A
41978825-41978825 rs2483689exonicnonsynonymous SNV NM_001127714:c.G6067C:p.A2023P
42048745-42048745 rs2810566exonic nonsynonymous SNV NM_001127714:c.A1724G:p.H575R
42094498-42094498 rs2038976 A G UTR5
41972556-41972560 rs138910163 UTR3 TTTCT -
120056870-120056870 rs34638609 exonic nonsynonymousSNV NM_000862:c.G724A:p.D242N
120057246-120057246 rs1047303 exonic nonsynonymous SNV NM_000862:c.C1100A:p.T367N
16340844-16340844 rs140824054 UTR3 C - TC T
79093818-79093818 rs273259 exonic nonsynonymous SNV NM_006820:c.A218G:p.H73R
79095526-79095526 rs3820093 exonic nonsynonymous SNV NM_006820:c.G649A:p.V217I
79095581-79095581 rs987495 exonic nonsynonymous SNV NM_006820:c.T704C:p.I235T
79102726-79102726 rs1981071 exonic nonsynonymous SNV NM_006820:c.C886T:p.R296C
79109338-79109338 . UTR3 T -
62253483-62253483 rs3762321 exonic nonsynonymous SNV NM_176877:c.G907A:p.G303R
62261168-62261168 rs7516332 exonic nonsynonymous SNV NM_176877:c.A1198G:p.I400V
62330080-62330080 rs2799627exonic nonsynonymous SNV NM_176877:c.T2610G:p.I870M
62380298-62380298 rs1056513exonic nonsynonymous SNV NM_176877:c.G3532A:p.G1178S
62456014-62456014rs1134767exonicnonsynonymousSNV NM_176877:c.G3845A:p.R1282H
226923505-226923505 rs708776 exonic nonsynonymous SNV NM_002221:c.C1655A:p.P552Q
226923938-226923938 rs6667260 exonicnonsynonymous SNV NM_002221:c.T1222G:p.S408A
226924642-226924642 rs3754415 exonic nonsynonymous SNV NM_002221:c.G518A:p.R173H
226820218-226820218 rs113989266 UTR3 - A
215409400-215409400 rs71762246 UTR3 T -
233514934-233514934 rs3795375 exonic nonsynonymous SNV NM_032435:c.G2182A:p.V728I
233514975-233514975 rs3795374 exonicnonsynonymous SNV NM_032435:c.G2223T:p.E741D
233515102-233515102 rs963981 exonic nonsynonymous SNV NM_032435:c.T2350G:p.C784G
233463785-233463785 rs78916182 exonic nonsynonymous SNV NM_032435:c.G11C:p.R4P
245704130-245704130 rs61754898exonic nonsynonymous SNV NM_018012:c.G1228C:p.A410P
245861491-245861491 exonic nonsynonymous SNV NM_018012:c.C5908T:p.R1970C
66036441-66036441 rs1137100exonic nonsynonymousSNV NM_001198687:c.A326G:p.K109R
66058513-66058513rs1137101 exonic nonsynonymous SNV NM_001198687:c.A668G:p.Q223R
65898249-65898249 rs34611533 UTR3 - A
16566645-16566645 rs2301968 exonic nonsynonymous SNV NM_001195280:c.C68G:p.T23S
114226706-114226706 rs141967702 UTR3 T -
114227223-114227223 rs76579897 UTR3 - A
61922046-61922046 rs150334419 UTR3 - A
61924360-61924360 rs71859985 UTR3 T -
41236838-41236838 rs140630996 UTR3 T -
236141174-236141174 rs3213190exonic nonsynonymousSNV NM_002508:c.A3737G:p.Q1246R
236208773-236208773 rs10733133exonic nonsynonymous SNV NM_002508:c.G736A:p.V246I
236175327-236175327 rs3738531exonic nonsynonymous SNV NM_002508:c.G2421T:p.Q807H
120611964-120611964 rs11810554 exonic nonsynonymousSNV NM_001200001:c.C57G:p.C19W
229623338-229623338 rs1065674exonic nonsynonymous SNV NM_018230:c.A1217G:p.Q406R
229631734-229631734 rs11805194exonic nonsynonymous SNV NM_018230:c.A880G:p.I294V
102269548-102269548 rs11434277 UTR3 - T
241761225-241761225 rs78202695exonic nonsynonymous SNV NM_014322:c.G768A:p.M256I
241767708-241767708 rs2273712 exonic nonsynonymous SNV NM_014322:c.G547A:p.V183I
17393709-17393709 . UTR3 G -
17393749-17393750 rs111648113 UTR3 AC -
17657534-17657534 rs11203366 exonic nonsynonymous SNV NM_012387:c.G163A:p.G55S
17657616-17657616 rs11203367 exonic nonsynonymous SNV NM_012387:c.T245C:p.V82A
17660499-17660499 rs874881 exonic nonsynonymous SNV NM_012387:c.G335C:p.G112A
9787866-9787866 rs149276999 UTR3 - TT
186946912-186946912 rs2307198exonic nonsynonymous SNV NM_024420:c.G1952A:p.R651K
167385325-167385326 rs34032944 UTR3 AA -
38510947-38510947 rs35099707 UTR3 - T
167385178-167385178 rs35216157 UTR3 - A
167385325-167385325 rs34032944 UTR3 A -
167394282-167394282 rs3070392 UTR3 - TAC
174247825-174247825 rs148684223 exonicnonsynonymousSNV NM_014857:c.G1231C:p.E411Q
174960913-174960914 rs34560615 UTR3 TT -
167654716-167654716 rs145561033 exonic nonsynonymousSNV NM_052862:c.C167A:p.P56H
167674569 167674569 rs139396314 UTR3 - AA
237996582 237996582 UTR3 A -
237996834 237996834 rs10667874 UTR3 - AAAC
67109335-67109335 rs7526812exonic nonsynonymous SNV NM_032291:c.A392G:p.K131R
156784982-156784982rs926103 exonic nonsynonymous SNV NM_001161443:c.A71G:p.N24S
232539219-232539219rs2275303exonic nonsynonymous SNV NM_020808:c.G4915A:p.G1639S
232574921-232574921rs2275307exonic nonsynonymous SNV NM_020808:c.A3964G:p.T1322A
232568041-232568041rs1547742exonic nonsynonymous SNV NM_020808:c.C4208T:p.S1403L
232534304 232534304 . UTR3 T -
9079301-9079301 rs34545462 exonic nonsynonymous SNV NM_207420:c.G403A:p.V135I
9074861-9074861 rs12402973 exonic nonsynonymous SNV NM_207420:c.G782A:p.R261Q
246670481-246670481 rs7520453 exonic nonsynonymous SNV NM_001167740:c.G39C:p.K13N
206603535-206603535 rs2297539 G→ A exonic unknown UNKNOWN
206566904-206566904 rs2919105 T→ C exonic unknown UNKNOWN
44290530-44290530 rs37458 exonic nonsynonymous SNV NM_174971:c.A289G:p.T97A
77093180-77093180 rs1184626 exonic nonsynonymous SNV NM_152996:c.C667A:p.L223I
92177829-92177829 exonic nonsynonymous SNV NM_001195683:c.A2134T:p.M712L
92327045-92327045 rs1805110 exonic nonsynonymous SNV NM_001195683:c.C44T:p.S15F
151881885-151881885 rs3748805 exonic nonsynonymousSNV NM_053055:c.T50G:p.L17R
151846840-151846840 rs138277213 UTR3 - T
151846849-151846849 rs16833618 UTR3 - G
175348723- 175348723 rs859427exonic nonsynonymous SNV NM_003285:c.G1928A:p.R643K
175375469-175375469 rs2239819exonic nonsynonymous SNV NM_003285:c.G382T:p.A128S
175375802-175375802 rs859398 exonic nonsynonymous SNV NM_003285:c.A49G:p.I17V 55182300-55182300 rs1147990 exonic nonsynonymous SNV NM_004623:c.T139A:p.S47T
215960167-215960167 rs10864198exonicnonsynonymousSNV NM_206933:c.A10232C:p.E3411A
215987222-215987222 rs4129843exonic nonsynonymousSNV NM_206933:c.A9595G:p.N3199D
216011361-216011361 rs56032526exonic nonsynonymousSNV NM_206933:c.A9343G:p.T3115A
216051125-216051125 rs41277200exonic nonsynonymousSNV NM_206933:c.C8656T:p.L2886F
216172380-216172380 rs10864219exonic nonsynonymousSNV NM_206933:c.T6506C:p.I2169T
216219781-216219781 rs6657250 exonic nonsynonymousSNV NM_206933:c.T6317C:p.I2106T
216348764-216348764 rs1805049exonic nonsynonymousSNV NM_007123:c.G4457A:p.R1486K
216595306-216595306 rs10779261 exonic nonsynonymousSNV NM_007123:c.G373A:p.A125T
215914826-215914826rs35309576exonicnonsynonymousSNV NM_206933:c.A11602G:p.M3868V
215916563-215916563 rs11120616exonic nonsynonymousSNV NM_206933:c.C11504T:p.T3835I
108307727-108307727 rs7528153 exonic nonsynonymousSNV NM_006113:c.A892T:p.T298S
108313258-108313258rs6583048exonic;splicingsynonymousSNV NM_006113:c.G648A:p.K216K
chromosome 2(the no. 2 karyomit(e)s)
100199339-100199339rs117319532exonicnonsynonymousSNVNM_001025108:c.A2789G:p.N930S
100343557-100343557rs4851223exonic nonsynonymous SNVNM_001025108:c.G1148A:p.S383N
100199386-100199386rs117712488exonicnonsynonymousSNV NM_001025108:c.C2742A:p.H914Q
100167615-100167615 rs113991942 UTR3 - GT
29416366-29416366 rs1881421 exonicnonsynonymous SNV NM_004304:c.C4587G:p.D1529E
29416481-29416481 rs1881420exonic nonsynonymous SNV NM_004304:c.A4472G:p.K1491R
29416572-29416572 rs1670283 exonic nonsynonymous SNV NM_004304:c.A4381G:p.I1461V
29449820-29449820 rs35073634exonic nonsynonymous SNV NM_004304:c.C3035T:p.T1012M
190595258-190595258 rs1225090exonic nonsynonymousSNV NM_144708:c.G3231T:p.L1077F
56411817-56411817 rs35587531exonic nonsynonymous SNV NM_001080433:c.C58T:p.P20S
21144445-211444453 exonic nonsynonymous SNV NM_001875:c.G487A:p.G163R
211456637-211456637 rs1047883exonic nonsynonymous SNV NM_001875:c.A1030G:p.T344A
42510018-42510018 rs6736913exonic nonsynonymous SNV NM_001145076:c.A673G:p.K225E
42515388-42515388 rs10202624exonic nonsynonymous SNV NM_001145076:c.A970G:p.I324V
42515437-42515437 rs28651764exonicnonsynonymousSNV NM_001145076:c.A1019G:p.K340R
42557760-42557760 . UTR3 T
149520349-149520349 rs182605517exonic nonsynonymous SNV NM_015630:c.A926G:p.K309R 212286761-212286761 exonic nonsynonymous SNV NM_001042599:c.C2935G:p.R979G
212243952-212243952 . UTR3 - T
38916970-38916970 rs6741892 exonic nonsynonymous SNV NM_138801:c.A568T:p.N190Y
26534801-26534801 rs7568529exonic nonsynonymous SNV NM_153835:c.C1198T:p.H400Y
26536694-26536694 rs2052937 exonic nonsynonymous SNV NM_153835:c.G613A:p.A205T
234066969-234066969 rs36127492 exonic unknown UNKNOWN
234113057-234113057 rs7346 exonic unknown UNKNOWN
234113301-234113301 rs9247 exonic unknown UNKNOWN
30865267-30865268 rs144922851 UTR3 TT -
170053505-170053505 rs2228171 exonic nonsynonymousSNV NM_004525:c.G8614A:p.A2872T
170070172-170070172 rs4667596 exonicnonsynonymousSNV NM_004525:c.G6035A:p.R2012K
170175334-170175334 rs2229263 exonic nonsynonymous SNV NM_004525:c.A248G:p.N83S
170088351-170088351rs2302694exonicsplicingsynonymousSNV NM_004525:c.C5100T:p.S1700S
170177382-170177382 rs144829356 exonic nonsynonymousSNV NM_004525:c.C92T:p.A31V
170003432-170003432 rs4667591 exonic nonsynonymousSNV NM_004525:c.A12628C:p.I4210L
170010985-170010985 rs2075252 exonicnonsynonymousSNV NM_004525:c.A12280G:p.K4094E
77746461-77746461 exonic synonymous SNV NM_001134745:c.A534G:p.Q178Q
76975666-76975666 rs11437981 UTR3 - T
77745255-77745255 rs36044249 UTR3 - A
160676427-160676427rs12692566exonicnonsynonymousSNV NM_001198759:c.G3963T:p.K1321N
160711045-160711045 rs3951216exonic splicingnonsynonymous SN NM_001198759:c.C2421G:p.D807E
160743040-160743040rs2271381 exonic;splicing nonsynonymousSNV NM_001198759:c.A804T:p.E268D
160710153-160710153rs3815875exonicnonsynonymousSNV NM_001198759:c.A2651C:p.D884A
160626154-160626154 rs142841729 UTR3 - AT
216878008-216878008 rs1864253 C nonsynonymous SNV NM_018000:c.G43C:p.G15R
233834975-233834975 rs4973588 exonic nonsynonymous SNV NM_019850:c.T332C:p.M111T
233744131-233744132 rs138377071 UTR3 CC -
233744131-233744131 rs138377071 UTR3 C -
10717806-10717806 rs2287059exonicnonsynonymous SNV NM_001261392:c.G1825A:p.D609N
206581033-206581033 rs849541 exonic nonsynonymous SNV NM_003872:c.G368A:p.R123K
206660086-206660088 rs11280948 UTR3 TAT -
174939983-174939983 UTR3 - A
174939982-174939982 rs58281097 UTR3 G -
174939187-174939187 rs35718686 UTR3 - AG
26700700-26700700 rs4665855 exonic nonsynonymous SNV NM_194322:c.C62T:p.P21L
26700908-26700908 rs6749978 C→ G UTR5
26750769-26750769 rs1879761 exonic nonsynonymous SNV NM_194248:c.C158T:p.A53V
205912403-205912403 rs1510765 exonic nonsynonymous SNV NM_057177:c.T494C:p.L165P
205969220- 205969220 rs2289025exonic nonsynonymous SNV NM_057177:c.G575A:p.R192K
183106640-183106640 rs182089527exonic nonsynonymous SNV NM_001258314:c.T2G:p.M1R
183005682-183005682 rs79674734 UTR3 T -
46414708-46414708 . UTR3 - A
161130280-161130280 rs147708838 UTR3 - T
161131038-161131038 rs142283414 UTR3 T -
161130857-161130857 rs145912330 UTR3 A -
100055506-100055506 rs3087386 exonic nonsynonymousSNV NM_001037872:c.T770C:p.F257S
100058870-100058870rs3087403 exonicnonsynonymousSNV NM_001037872:c.G412A:p.V138M
102038849-102038849 rs4851436 exonic nonsynonymousSNV NM_001145664:c.A158T:p.Q53L
102038936-102038936 rs7589943 T→ G splicing
102018908-102018908 rs2175968exonicnonsynonymousSNV NM_001145664:c.T1235C:p.M412T
11359120-11359120 rs2230774 exonic nonsynonymous SNV NM_004850:c.C1292A:p.T431N
166152389-166152389 rs17183814exonicnonsynonymous SNV NM_001040143:c.G56A:p.R19K
4033947940339480 rs140671694 ncRNA_UTR3 CC -
40339798-40339798 rs150773541 ncRNA_UTR3 - AA
1271230-1271230 rs13023962 exonic nonsynonymous SNV NM_018968:c.A1171G:p.I391V
1320143-1320143 rs4927635 exonic nonsynonymous SNV NM_018968:c.C1484T:p.T495M
39210280-39210283 . UTR3 AACA -
39212565-39212565 rs144104838 UTR3 - TG
214794743-214794743 rs12623569exonicnonsynonymous SNV NM_024532:c.A1274C:p.K425T
214727221-214727221 rs2042791exonic nonsynonymous SNV NM_024532:c.A1083C:p.Q361H 54895818-54895818 UTR3 T -
48807796-48807796 rs17039250exonic nonsynonymous SNV NM_001198594:c.A24C:p.K8N
48808152-48808152 rs940389 exonic nonsynonymous SNV NM_001198594:c.G380C:p.R127T
48809593-48809593 rs3792234exonicnonsynonymous SNV NM_001198594:c.G1821T:p.Q607H
70676770-70676770 rs148504120 UTR3 A -
105885961-105885961rs2241797exonicnonsynonymousSNV NM_001142621:c.A2174G:p.H725R
43797619-43797619 rs17031056exonicnonsynonymous SNV NM_001083953:c.G2095A:p.V699I
234863788-234863788 rs7593557 exonicnonsynonymous SNV NM_024080:c.G1256A:p.S419N
239007130-239007130 rs62196005 A→ T ncRNA_exonic
239007209-239007209 rs36131256 T→ C ncRNA_exonic
239007222-239007222 rs112131411 C→ A ncRNA_exonic
239007232-239007232 rs28576957 A→ G ncRNA_exonic
239007806-239007806 rs1054640 A G→ ncRNA_exonic
239007163-239007163 rs73098352 C→ A ncRNA_exonic
239007246-239007246 rs28700227 A→ G ncRNA_exonic
239007292-239007292 rs72985160 C→ A ncRNA_exonic
239007534-239007534 rs61544914 A→ G ncRNA_exonic
239007850-239007850 rs1054641 T→ A ncRNA_exonic
239007991-239007991 rs15787 T→ A ncRNA_exonic
64124722-64124722 rs11558741exonicnonsynonymous SNV NM_001005739:c.G2700T:p.M900I
64119863-64119863 rs111411694 UTR3 - T
20189015-20189015 rs1060742 exonic nonsynonymous SNV NM_001006657:c.A53G:p.Q18R
145144612-145144612 UTR3 - TA
no. 3 karyomit(e) of chromosome 3()
183699516-183699516 rs7636910 exonic;splicing synonymousSNV NM_005688:c.A1146G:p.Q382Q
100712249-100712249 rs3732895 exonic nonsynonymous SNV NM_015429:c.A1G:p.M1V
10369805-10369805 UTR3 - TA
63967900-63967900 rs1053338 exonicnonsynonymous SNV NM_001128149:c.A356G:p.K119R
63976489-63976489 rs74823804exonic nonsynonymousSNV NM_001128149:c.G1201A:p.A401T
63982082-63982082 rs3774729 exonicnonsynonymousSNV NM_001128149:c.G2149A:p.V717M
63986047-63986047 rs146237775 UTR3 T -
63967900-63967900 rs1053338 exonicnonsynonymous SNV NM_001128149:c.A356G:p.K119R
63976489-63976489 rs74823804exonicnonsynonymousSNV NM_001128149:c.G1201A:p.A401T
63982082-63982082 rs3774729exonic nonsynonymousSNV NM_001128149:c.G2149A:p.V717M
107524964-107524965 rs112630975 UTR3 AA -
107529758-107529758 rs144129847 UTR3 - T
107524963 -107524964 rs112630975 UTR3 AA -
107529058-107529058 rs56271592 UTR3 A -
113005743-113005743 . UTR3 - T
67054649 -67054649 rs13096789 exonic nonsynonymous SNV NM_032505:c.T1258C:p.C420R
67411103 -67411103 rs902320 exonic nonsynonymousSNV NM_001177599:c.G1273A:p.V425I
62384314-62384314 rs6762164 A→ G UTR3
62459846-62459846 A→ T splicing
(NM_003716:exon25:c.3477+2T>A,NM_183394:exon23:c.3360+2T>A,NM_183393:exon22:c.3240+2T>A) CBLB
56627598-56627598 rs1491170exonic nonsynonymous SNV NM_001012506:c.A1046G:p.Q349R
56650012-56650012 rs4681904exonicnonsynonymous SNV NM_001012506:c.G1672C:p.E558Q
121825197-121825197 rs2681417 exonic nonsynonymousSNV NM_001206924:c.G217A:p.V73I
121838319-121838319 rs1129055exonic nonsynonymousSNV NM_001206924:c.G592A:p.A198T
121838791-121838791 rs1915087 T→C UTR3
32522862-32522862 rs141574168 UTR3 - A
130311398-130311398rs73868925exonicnonsynonymous SNV NM_001102608:c.C4286T:p.A1429V
130345381-130345381rs139324337exonicnonsynonymousSNV NM_001102608:c.G4931A:p.R1644H
130368069-130368069 rs7614116exonicnonsynonymousSNV NM_001102608:c.A5396G:p.H1799R
130282510-130282510 rs150427289 T C splicing (NM_001102608:exon2:c.661+2T>C)
130285929 -130285929rs59021909exonicnonsynonymousSNV NM_001102608:c.C1666T:p.P556S
56114861-56114861 rs12488237exonic nonsynonymous SNV NM_015576:c.A1625G:p.N542S
FNDC3B
171969077-171969077 rs7652177exonic nonsynonymousSNV NM_001135095:c.C536G:p.T179S
119886776-119886776 rs902790 exonicnonsynonymousSNV NM_001168271:c.A1536T:p.E512D
14551444-14551444 rs9845816 A→ G exonic unknown UNKNOWN
14555216-14555216 rs4685171 T→ C exonic unknown UNKNOWN
14555811-14555811 rs4613440 A→ G exonic unknown UNKNOWN
14563258-14563258 rs4234526 A→ G exonic unknown UNKNOWN
14547198-14547198 rs61731939 G→ A exonic unknown UNKNOWN
14563237-14563237 rs7645232 G→ A exonic unknown UNKNOWN
14552958-14552958 rs74491811 T→ C exonic unknown UNKNOWN
14533135-14533135 rs113275909 UTR3 - A
7494417-7494417 rs2229902 exonic nonsynonymous SNV NM_000844:c.A1298T:p.Y433F
197616531-197616531 rs78757533exonic nonsynonymousSNV NM_001134435:c.A1252G:p.M418V
197659160-197659160 rs67877771exonicnonsynonymousSNV NM_001134435:c.G529C:p.D177H
197665599-197665599 rs9880989 exonicnonsynonymousSNV NM_001134435:c.C335A:p.A112D
10264480-10264480 rs3844283exonic nonsynonymous SNV NM_001570:c.C1174G:p.L392V
10276163-10276163 rs708035 exonic nonsynonymous SNV NM_001570:c.T1293A:p.D431E
47956424-47956424 rs1137524 exonicnonsynonymous SNV NM_001134364:c.G1882A:p.V628I
47958037-47958037 rs1060407 exonicnonsynonymous SNV NM_001134364:c.C1280A:p.S427Y
47892376 -47892376 rs55721964 UTR3 - CTT
182897920-182897920 rs35070271exonic nonsynonymousSNV NM_015078:c.T3044C:p.M1015T
182925404-182925404 rs6804951 exonicnonsynonymous SNV NM_015078:c.A2704G:p.T902A
183056598-183056598 rs12632177 exonic nonsynonymousSNV NM_015078:c.C476T:p.T159M
151090424-151090424 rs3732765 exonic nonsynonymousSNV NM_053002:c.G3629A:p.R1210Q
151152851-151152852 rs66791814 UTR3 TT -
108159977-108159977 rs12638212exonic nonsynonymous SNV NM_014981:c.C2846T:p.T949I
175165079-175165079 rs6802937exonic nonsynonymous SNV NM_207015:c.C1153T:p.P385S
175345143-175345143 rs9866564exonic nonsynonymous SNV NM_207015:c.C1865G:p.P622R
175473047-175473047 rs9826737 exonicnonsynonymous SNV NM_207015:c.T2030C:p.L677S
174814738-174814738 rs9823911 exonic nonsynonymous SNV NM_207015:c.G202A:p.G68S
174814920-174814920 rs9836841 exonic nonsynonymous SNV NM_207015:c.A384G:p.I128M
174951756-174951756 rs4371530 exonic nonsynonymous SNV NM_207015:c.T581C:p.M194T
31789582-31789582 rs2290532exonic nonsynonymousSNV NM_001174060:c.A568G:p.N190D
73433369-73433369 rs3205537 exonic nonsynonymous SNV NM_015009:c.C2348T:p.A783V
62189189-62189189 rs2292245 exonic nonsynonymous SNV NM_002841:c.G1720A:p.G574S
30045700-30045700 UTR3 T -
170180517-170180517 rs11462607 UTR3 - A
143297428-143297428 exonic;splicing nonsynonymous SNV NM_173653:c.T893A:p.L298Q
186794764 -186794764 rs113919686 UTR3 - T
4403365-4403368 rs71873849 UTR3 CTCA -
133115172-133115172 rs3054642 UTR3 - GT
133116234-133116234 rs78259106 UTR3 A -
194337901-194337901 rs922282 exonicnonsynonymousSNV NM_001011655:c.A710G:p.Q237R
194338423-194338423rs12695036exonicnonsynonymousSNV NM_001166305:c.G695A:p.R232H
194349178-194349178 rs1563970exonic synonymousSNV NM_001011655:c.G198A:p.A66A
23244943-23244943 rs111458483 UTR5 - C
23244949-23244949 UTR5 - T
157131788-157131788 rs1378796exonic nonsynonymousSNV NM_001167911:c.T788G:p.V263G
157081324-157081324 rs11918974exonicnonsynonymousSNV NM_001167911:c.T1564C:p.S522P
156978479-156978479 rs72211258 UTR3 - T
38404472-38404472 rs17118 exonic nonsynonymous SNV NM_005108:c.C255A:p.D85E
183442219-183442219 rs16858033exonic nonsynonymous SNV NM_018023:c.A550G:p.I184V
183508714-183508714 rs74496163exonic nonsynonymousSNV NM_018023:c.G3043A:p.A1015T
183476685-183476685 rs262993exonic nonsynonymous SNV NM_018023:c.G1588A:p.V530I
114107799-114107799 rs2272278 G→ T ncRNA_exonic
114057499-114057499 . UTR3 T -
141162128-141162128rs62282002exonic nonsynonymousSNV NM_001080412:c.C898G:p.P300A
141162185-141162185 rs16851435exonicnonsynonymousSNV NM_001080412:c.T955G:p.S319A
15115478-15115478 rs9830744exonic nonsynonymous SNV NM_022340:c.G2166A:p.M722I
15115723-15115723 rs9851219 exonic nonsynonymous SNV NM_022340:c.A1921G:p.T641A
15115872-15115872 rs9868848exonic nonsynonymous SNV NM_022340:c.T1772C:p.L591P
no. 4 karyomit(e) of chromosome 4()
73414286-73414286 rs788908 exonic nonsynonymous SNV NM_014243:c.G413A:p.R138K
123664204-123664204 rs309370 exonic nonsynonymous SNV NM_152618:c.G1157A:p.R386Q
96077470-96077470 rs34119401 UTR3 T -
96076113- 96076113 rs11436086 UTR3 - T
13606576-13606576 rs1971278 exonic nonsynonymous SNV NM_148894:c.T1948A:p.L650I
13601337-13601337 rs3733557exonic nonsynonymous SNV NM_148894:c.C7187T:p.P2396L
13606576-13606576 rs1971278 exonic nonsynonymous SNV NM_148894:c.T1948A:p.L650I
81529518-81529518rs2867782 exonic nonsynonymous SNV NM_001206997:c.T365C:p.I122T
81884722-81884722 rs1052325 exonic nonsynonymous SNV NM_152770:c.G658A:p.V220I
71029602-71029602 rs71210152 UTR3 T -
114375412-114375412 rs75145111 UTR3 T -
114375228-114375228 rs34741667 UTR3 T -
114375242-114375242 rs34145709 UTR3 - A
170581570-170581570 rs4692739 exonic nonsynonymousSNV NM_001243374:c.G50A:p.S17N
170581570-170581570rs4692739exonic nonsynonymous SNV NM_001243374:c.G50A:p.S17N
84205872-84205872 rs6818847 exonic nonsynonymous SNV NM_015697:c.G196T:p.V66L
47667064-47667064 rs11934749exonic nonsynonymous SNV NM_006587:c.A1574G:p.H525R
47839929-47839929 rs2289433 exonic nonsynonymous SNV NM_006587:c.G38A:p.C13Y
155155950-155155950 exonic nonsynonymous SNV NM_017639:c.C8489A:p.A2830D
155219318-155219318 rs28561984 exonic nonsynonymousSNV NM_017639:c.G4783A:p.E1595K
155219662-155219662 rs17031394exonic nonsynonymousSNV NM_017639:c.C4439G:p.T1480R
155241572-155241572 rs11935573 exonic nonsynonymousSNV NM_017639:c.C3614T:p.S1205L
155243604-155243604 rs1352714 exonic nonsynonymousSNV NM_017639:c.A2690G:p.N897S
155244475-155244475 rs12500437 exonic nonsynonymous SNV NM_001142552:c.C4025A:p.P1342H
155256205-155256205 rs6858712 exonic nonsynonymousSNV NM_001142552:c.C2528T:p.S843L
155287535-155287535 rs10017772 exonic nonsynonymous SNV NM_001142552:c.A2303G:p.H768R
155295076-155295076 rs11721758 exonic nonsynonymous SNV NM_017639:c.T458C:p.V153A
151177340-151177340 rs13152819 exonic nonsynonymousSNV NM_001040260:c.C2242T:p.P748S
151177341-151177341 rs60939896 exonic nonsynonymousSNV NM_001040260:c.C2243G:p.P748R
169282355-169282355 rs2684348 exonic nonsynonymousSNV NM_001012967:c.A4936G:p.M1646V
169299528-169299528 rs13110927 exonic nonsynonymousSNV NM_001012967:c.A4462G:p.N1488D
169315760 -169315760 rs3749499 exonic nonsynonymousSNV NM_001012967:c.G3666T:p.E1222D
169336662-169336662 rs4692661 exonic nonsynonymousSNV NM_001012967:c.A2876G:p.Y959C
169341435-169341435 rs2130145 exonic nonsynonymousSNV NM_001012967:c.T2491C:p.C831R
169362557-169362557 rs13151700 exonic nonsynonymousSNV NM_001012967:c.G1225C:p.V409L
169369920-169369920 rs12507582 exonic nonsynonymousSNV NM_001012967:c.G1007A:p.C336Y ELOVL6
110971043-110971043 . UTR3 - T
110970699-110970700 . UTR3 CT -
101318099 -101318099 rs111344471 UTR3 - T
FAM13A
89649491-89649491 rs3017895 A→ G ncRNA_exonic
89649659-89649659 rs9224 A→ G ncRNA_exonic
89668859-89668859rs7657817exonic nonsynonymous SNV NM_001265580:c.G1243A:p.V415I
89647454-89647454 rs57101865 ncRNA_UTR3 T -
123817337-123817337 rs3840102 UTR3 T -
163084833-163084833 rs34925773 UTR5 - A
39450229-39450229 rs4975017exonic nonsynonymous SNV NM_175737:c.C3058A:p.Q1020K
41699388-41699388 rs10709122 UTR3 T -
76836137-76836137 rs6823734 exonic; splicingnonsynonymousSNV NM_014435:c.T1000C:p.F334L
76857309-76857309 rs4859571 exonic nonsynonymous SNV NM_001042402:c.G451A:p.V151I
149357475-149357475 rs5522 exonic nonsynonymous SNV NM_000901:c.G538A:p.V180I
149358014-149358014 rs2070951 G→C splicing
151177340-151177340 rs13152819 exonic nonsynonymousSNV NM_001040260:c.C2242T:p.P748S
151177341-151177341 rs60939896 exonic nonsynonymousSNV NM_001040260:c.C2243G:p.P748R
31146675-31146675 . UTR3 - T
16020162-16020162 rs2286455 exonic;splicing synonymousSNV NM_001145851:c.G759A:p.A253A
83582064-83582064 rs3733228 exonic nonsynonymous SNV NM_024906:c.C736A:p.L246M
83582211-83582211 rs3733227 exonic nonsynonymous SNV NM_024906:c.G589C:p.E197Q
83552278-83552278 rs35490627 UTR3 - A
90757941-90757941 rs3833895 ncRNA_UTR5 - T
123949389-123949389rs35343500exonic nonsynonymous SNV NM_145207:c.G1918C:p.E640Q
124236340-124236340 rs11306876 UTR3 T -
124239937-124239937 rs36070408 UTR3 - GA
167658630-167658630 exonic nonsynonymous SNV NM_001251967:c.G835A:p.V279I
5448429 -5448429 rs3733182 exonic nonsynonymous SNV NM_018401:c.A592G:p.R198G
37903756-37903756 rs2279027 exonic nonsynonymous SNV NM_001253912:c.T40C:p.S14P
37904089-37904089 rs35859249exonic nonsynonymous SNV NM_001253912:c.C373T:p.R125W
38016395-38016395 rs10501 exonic nonsynonymous SNV NM_001253912:c.T683G:p.V228G
38053599-38053599 rs117452860exonicnonsynonymous SNV NM_001253912:c.C1990T:p.P664S
38037296-38037296 exonic nonsynonymous SNV NM_001253912:c.A1390C:p.I464L
48172266-48172266 rs2271173 exonic;splicingsynonymousSNV -NM_003215:c.C453T:p.S151S
183721839-183721839 rs111839761 UTR3 - A
167020644-167020644 rs2291822 exonicnonsynonymous SNV NM_012464:c.A2872G:p.T958A
70160277-70160277 rs6843900 exonic nonsynonymous SNV NM_053039:c.T1340G:p.I447R
70160309-70160309 rs6828191 exonic nonsynonymous SNV NM_053039:c.C1372G:p.H458D
96091414- 96091414 rs34585936exonic nonsynonymous SNV NM_003728:c.G2521A:p.A841T
96106322-96106322 rs2289043exonic nonsynonymous SNV NM_003728:c.T2162C:p.M721T
177073026-177073026 rs4690661exonic nonsynonymous SNV NM_181265:c.G2368A:p.A790T
177098285-177098285 rs17625943exonic nonsynonymousSNV NM_181265:c.G3526A:p.A1176T
2306053-2306053 rs661301 exonic nonsynonymousSNV NM_001172656:c.T1924C:p.S642P
2307225-2307225rs150392759exonic nonsynonymous SNV NM_001172656:c.C752T:p.T251M
no. 5 karyomit(e) of chromosome 5()
128863471-128863471 rs6595908 exonicnonsynonymous SNV NM_133638:c.A1099G:p.S367G
79855372-79855372 rs32857 exonic nonsynonymous SNV NM_001004441:c.T467C:p.L156S
10650614-10650614 rs141963763 UTR3 T -
10657091-10657091 rs112973819 UTR3 - AA
142593652-142593652 rs258819 exonic; splicing synonymousSNVNM_001135608:c.C2190T:p.N730N
73072354-73072354 rs7714670exonic nonsynonymous SNV NM_001080479:c.T673C:p.W225R
73076511-73076511 rs6453022 exonicnonsynonymous SNV NM_001080479:c.C851A:p.P284Q
73207372-73207372rs1478453 exonicnonsynonymous SNV NM_001244364:c.T3981A:p.H1327Q
78281383 -78281383 rs11424557 splicing - A T
78181477-78181477 rs1065757exonic nonsynonymous SNV NM_000046:c.G1072A:p.V358M
22078686-22078686 rs117878510 exonic nonsynonymous SNV NM_004061:c.G100C:p.E34Q
31325029-31325029 . UTR3 - TA
31325429 -31325432 rs3840334 UTR3 ACAC -
115428381-115428381 rs1129495 exonic nonsynonymous SNV NM_016144:c.T383G:p.I128S
10972889-10972889 rs70947237 UTR3 T -
112357084-112357085 rs61532290 UTR3 AA -
112312676-112312676 rs33555 exonic nonsynonymous SNV NM_001242377:c.T46C:p.F16L
13701536-13701536 rs3734110 exonic nonsynonymous SNV NM_001369:c.A13348G:p.I4450V
13717471-13717471 rs2277046 exonic nonsynonymous SNV NM_001369:c.A12658G:p.T4220A
13719089-13719089 rs30168 exonic nonsynonymous SNV NM_001369:c.C12401T:p.A4134V
13902220-13902220 rs1530498 exonic nonsynonymous SNV NM_001369:c.A1672G:p.T558A
13931340-13931340 rs1530496 exonic nonsynonymous SNV NM_001369:c.G71A:p.G24E
13944512-13944512 rs339445 exonic nonsynonymous SNV NM_001369:c.T36G:p.H12Q
13811775-13811775 rs10078391exonic nonsynonymous SNV NM_001369:c.A7388G:p.Q2463R
13894894-13894894 rs4701997 exonic nonsynonymous SNV NM_001369:c.A2296T:p.I766L
158122996-158122996 rs58435135 UTR3 - A
158124281- 158124281 rs34258322 UTR3 T -
158125650 -158125650 rs151060696 UTR3 T -
106712690-106712690 rs35106286 UTR3 T -
106716281 -106716281 UTR3 - A
111500529-111500529 rs35824437 UTR3 A -
111504479-111504479 rs7703522exonic nonsynonymous SNV NM_022140:c.G1889A:p.R630H
111519740-111519740 rs1560058exonic nonsynonymous SNV NM_022140:c.A1595G:p.N532S
111530284-111530284 rs7719346 exonic nonsynonymous SNV NM_022140:c.T1483C:p.Y495H
111545670-111545670 rs890757 exonic nonsynonymous SNV NM_022140:c.G1097C:p.S366T
127622491-127622491 rs32209exonic nonsynonymous SNV NM_001999:c.A6931G:p.M2311V
127685135-127685135 rs154001 exonic nonsynonymous SNV NM_001999:c.G2893A:p.V965I
107717173-107717173 exonic nonsynonymous SNV NM_001163315:c.G220C:p.A74P
39202753-39202753 exonic nonsynonymous SNV NM_001243093:c.G340A:p.E114K
160716798-160716799 rs112197946 UTR3 GT -
160717254-160717254 UTR3 - T
150647377 -150647377 rs150406361 UTR3 T -
150647722-150647722 rs113437403 UTR3 - T
150632832-150632832 rs1048719 exonic nonsynonymousSNV NM_000405:c.G55A:p.A19T
150632855-150632855 rs28365994 exonic nonsynonymous SNV NM_000405:c.A78T:p.K26N
150639409-150639409 rs153477 exonic nonsynonymous SNV NM_000405:c.A175G:p.I59V
150639439-150639439 rs153478 exonic nonsynonymous SNV NM_000405:c.A205G:p.M69V
75906851-75906851 rs7722711exonic nonsynonymous SNV NM_006633:c.T1364C:p.V455A
75906923-75906923 rs3822530 exonic nonsynonymous SNV NM_006633:c.C1436G:p.P479R
75923294-75923294 rs2431352 exonic nonsynonymous SNV NM_006633:c.T1581G:p.D527E
75923307-75923307 rs2909888 exonic nonsynonymous SNV NM_006633:c.A1594G:p.K532E
75932965-75932965 rs2455230 exonic nonsynonymous SNV NM_006633:c.G1887C:p.L629F
75948650-75948650 rs2431363exonic nonsynonymous SNV NM_006633:c.A2170G:p.I724V
93753017-93753017 rs29910exonic nonsynonymous SNV NM_001145678:c.G2551A:p.A851T
38496637-38496637 rs3729740 exonicnonsynonymous SNV NM_001127671:c.G1732A:p.D578N
38506031-38506031rs144606459exonic nonsynonymous SNV NM_001127671:c.A1267G:p.I423V
38511951-38511951 exonic nonsynonymous SNV NM_001127671:c.A677G:p.N226S
66464348- 66464350 UTR3 TGT -
66459878-66459878 rs1705399 exonicnonsynonymous SNV NM_015183:c.G4304C:p.R1435P
112439941-112439941 rs6594681exonic nonsynonymous SNV NM_002387:c.A569G:p.K190R
112824039-112824039 rs348942exonic nonsynonymous SNV NM_001085377:c.A73G:p.S25G
16663661-16663661 rs66785094 UTR3 - AT
16665316-16665316 . UTR3 - A
16673975-16673975 rs25901 exonic nonsynonymous SNV NM_012334:c.G4988C:p.S1663T
16769273-16769273 rs11750538exonic nonsynonymous SNV NM_012334:c.C970T:p.R324W
16877744 -16877744 rs17707947exonic nonsynonymous SNV NM_012334:c.G94A:p.V32I
58295380-58295380 rs35776313 UTR5 - TA
58295390-58295390 . UTR5 - TATG
77775871-77775871 rs113124801 UTR3 - A
9036384-9036384 rs77181837 UTR3 - CAT
128301885-128301885 rs2526247exonic nonsynonymous SNV NM_001017372:c.T55G:p.L19V
150666962-150666962 rs12520516exonic nonsynonymous SNV NM_181774:c.C553T:p.P185S
150667016-150667016 rs978012 exonic nonsynonymous SNV NM_181774:c.A499G:p.K167E
101631761-101631761 rs76381196 exonic nonsynonymousSNV NM_180991:c.A206G:p.N69S
no. 6 karyomit(e) of chromosome 6()
151678525-151678525 UTR3 - A
151669875-151669875 rs10872670exonic nonsynonymous SNV NM_144497:c.A55G:p.K19E
151670172-151670172 rs3734799 exonic nonsynonymous SNV NM_144497:c.A352C:p.K118Q
151674326-151674326 rs3823310 exonic nonsynonymousSNV NM_144497:c.A4506C:p.E1502D
157531841-157531841 rs71898369 UTR3 A -
56033094-56033094 rs35471617 exonic; splicingnonsynonymous SNV NM_030820:c.C1028T:p.T343M
24291203-24291203 rs2274305 exonic nonsynonymous SNV NM_016356:c.A661G:p.S221G
35285720-35285720 rs2395617 exonic nonsynonymous SNV NM_022047:c.A860C:p.N287T
38747770-38747770 rs1738254 exonic nonsynonymousSNV NM_001206927:c.G2068A:p.G690R
38750888-38750888 rs3823430 exonic nonsynonymousSNV NM_001206927:c.A2368G:p.I790V
38773293-38773293 rs874808 exonic nonsynonymousSNV NM_001206927:c.G3071A:p.G1024E
38800164-38800164rs9357283 exonic nonsynonymousSNV NM_001206927:c.G4255A:p.E1419K
38759379-38759379 rs1678674 exonic nonsynonymousSNV NM_001206927:c.G2830A:p.A944T
38951998-38951998rs1537232exonicnonsynonymous SNV NM_001206927:c.C12968T:p.T4323M 56480052-56480052 rs35517909 ncRNA_UTR3 - A
56417282-56417282 rs4715630 exonic nonsynonymous SNV NM_015548:c.G8439A:p.M2813I
56417545-56417545 rs4715631 exonic nonsynonymous SNV NM_015548:c.A8176G:p.T2726A
56426246-56426246 rs148547958exonic nonsynonymous SNV NM_015548:c.T6301C:p.S2101P
56463410-56463410 rs4712138exonic nonsynonymous SNV NM_015548:c.A3923G:p.Q1308R
56482801-56482801 rs6459166 exonic nonsynonymous SNV NM_001723:c.G6031C:p.V2011L
56507489-56507489 rs1024196 exonic nonsynonymous SNV NM_001723:c.T98C:p.L33S
56351972-56351972 rs80260070exonic nonsynonymous SNV NM_015548:c.C13108G:p.L4370V
56479222-56479222 rs76257231exonic nonsynonymous SNV NM_015548:c.G3379T:p.V1127L
64694354-64694354 rs4710457exonicnonsynonymous SNV NM_001142800:c.G6977A:p.R2326Q
65149185-65149185 rs9353806 exonic nonsynonymousSNV NM_001142800:c.A5705T:p.N1902I
65301504-65301504 rs624851exonic nonsynonymous SNV NM_001142800:c.T4256C:p.L1419S
65622463-65622463 rs9294631 exonic nonsynonymousSNV NM_001142800:c.T2555C:p.L852P
66005888-66005888 rs9342464exonicnonsynonymous SNV NM_001142800:c.G1891A:p.G631S
66044927-66044927 rs61753610exonic nonsynonymous SNV NM_198283:c.A1712G:p.Q571R
5431340-5431340 rs11243011exonic nonsynonymous SNV NM_006567:c.A839G:p.N280S
5431340-5431340 rs11243011exonic nonsynonymous SNV NM_006567:c.A839G:p.N280S
96651740-96651740 rs3811069 exonic nonsynonymous SNV NM_006581:c.A709G:p.T237A
39024225-39024225 rs2295006 exonic nonsynonymous SNV NM_002062:c.G131A:p.R44H
39041502-39041502 rs1042044 exonic nonsynonymous SNV NM_002062:c.A780C:p.L260F
102517173-102517173 rs141426024 UTR3 - AAT
55142337-55142337 rs2653349 exonic nonsynonymous SNV NM_001526:c.A922G:p.I308V
36446975-36446975 rs2239808 exonic nonsynonymous SNV NM_173562:c.G512C:p.S171T
129807629-129807629 rs6569605 exonic nonsynonymous SNV NM_001079823:c.C7748T:p.A2583V
136664061-136664061 rs79346375 UTR3 - A
136664061 -136664061 rs79346375 UTR3 - AA
136682172-136682172rs2076190exonicnonsynonymousSNV NM_001198617:c.C1390T:p.R464W
136683810-136683810 rs113337066 exonic nonsynonymous SNV
NM_001198617:c.C1022T:p.S341L
136683828-136683828 rs80342066exonic nonsynonymousSNV NM_001198617:c.T1004C:p.M335T
136687471-136687471rs79603562exonic nonsynonymousSNV NM_001198617:c.G701A:p.R234Q
126210395-126210395 rs6919947exonic nonsynonymousSNV NM_001199621:c.T850G:p.S284A
162622197-162622197 rs1801474exonic nonsynonymous SNV NM_004562:c.G500A:p.S167N 144150326-144150327 UTR3 TT -
144147193-144147193 rs34714715 UTR3 A -
144081609-144081609 rs2073214exonic nonsynonymousSNV NM_001100164:c.C526T:p.P176S
133070995-133070995 rs4895944exonic nonsynonymousSNVNM_001242350:c.C547A:p.L183M
no. 7 karyomit(e) of chromosome 7()
48287840-48287840 rs2361519 exonic nonsynonymous SNV NM_152701:c.G1664A:p.R555H
48311485-48311485 rs117022697exonic nonsynonymous SNV NM_152701:c.A2222C:p.E741A
48311563-48311563 rs17712293exonic nonsynonymous SNV NM_152701:c.T2300G:p.I767S
48315360-48315360 rs17661364exonic nonsynonymousSNV NM_152701:c.A6097G:p.N2033D
48315796-48315796 rs1880736 exonic nonsynonymous SNV NM_152701:c.C6533A:p.A2178E
48318811-48318811 rs2222648exonic nonsynonymous SNV NM_152701:c.C8020T:p.R2674W
48545976-48545976 rs6583448 exonic nonsynonymous SNV NM_152701:c.A13336G:p.K4446E
48428715-48428715 rs17132289exonic nonsynonymous SNV NM_152701:c.A11552T:p.Y3851F
48285485-48285485 rs1880738exonic nonsynonymous SNV NM_152701:c.C1517T:p.P506L
45762687-45762687 rs35360380 UTR3 - AAT
134225827-134225827 rs4728329exonic nonsynonymous SNV NM_020299:c.A937G:p.N313D
134216684-134216684 rs2303312 exonic nonsynonymous SNV NM_020299:c.C259T:p.P87S
38433726-38433726 rs35024632exonic nonsynonymous SNV NM_139316:c.A1361C:p.K454T
36552729-36552729 rs139631639 exonic - T
36657926-36657926 rs80187893exonic nonsynonymous SNV NM_001177507:c.C632T:p.P211L
36763672-36763672 rs11976480exonic nonsynonymous SNV NM_001177507:c.G82A:p.D28N
36656035-36656035 rs3735386exonic nonsynonymous SNV NM_001177507:c.C701G:p.A234G
70229821-70229821 exonic nonsynonymous SNV NM_001127231:c.T1298C:p.L433P
89912301-89912301rs1029365 exonicnonsynonymous SNV NM_001039706:c.G1468A:p.V490M
89938588-89938588 rs7803620exonic nonsynonymous SNV NM_001039706:c.C2562G:p.S854R
93054827-93054827 rs3839835 UTR3 - TCTT
93188929-93188929 rs35894767 UTR5 T -
93055753-93055753 rs1801197 exonic nonsynonymous SNV NM_001164738:c.T1340C:p.L447P
93116299-93116299 rs2301680 exonic nonsynonymous SNV NM_001164737:c.T49C:p.S17P
134618710-134618710 rs6973420 exonic nonsynonymous SNV NM_033138:c.A1190G:p.H397R
76889354-76889354 rs17853516exonic nonsynonymous SNV NM_020879:c.G787C:p.E263Q
76891485-76891485 rs1109968 exonic nonsynonymous SNV NM_020879:c.A1034G:p.N345S
29552797-29552799 rs3834868 UTR3 TGT -
29519929-29519929 rs3750103exonic nonsynonymous SNV NM_001039936:c.A203G:p.H68R
29552213-29552213 rs3750099 exonic synonymousSNV NM_001039936:c.T861C:p.N287N
29070320-29070320 rs1052200 exonic nonsynonymous SNV NM_019029:c.G1193A:p.R398H
28860743-28860743 rs139536015 UTR3 - TGTG
50611735-50611735 rs6264 exonic nonsynonymous SNV NM_000790:c.A49G:p.M17V
14188806-14188806 rs34616903exonic nonsynonymous SNV NM_004080:c.G2365A:p.G789S
21582963-21582963 rs2285943 exonic stopgain SNV NM_003777:c.G100T:p.E34X
21582964-21582964 rs2285944 exonic nonsynonymous SNV NM_003777:c.A101T:p.E34V
21640405-21640405 rs10224537exonic nonsynonymous SNV NM_003777:c.A3112G:p.T1038A
21856151-21856151 rs2214326 exonicnonsynonymous SNV NM_003777:c.G10420A:p.A3474T
21893993-21893993 rs4722064 exonicnonsynonymous SNV NM_003777:c.G11143T:p.V3715L
21924014-21924014 rs6461613exonic nonsynonymous SNV NM_003777:c.A12514G:p.M4172V
21939610-21939610 rs181603431exonic nonsynonymous SNV NM_003777:c.C13196T:p.T4399M
21628197-21628197 rs12670130exonic nonsynonymous SNV NM_003777:c.A1916G:p.Q639R
21630947-21630947 exonic nonsynonymous SNV NM_003777:c.G2419C:p.D807H
21932044-21932044rs12537531exonic;splicingnonsynonymousSNVNM_003777:c.C12530T:p.T4177I EGFR
55229255-55229255 rs2227983 exonic nonsynonymous SNV NM_005228:c.G1562A:p.R521K
101006376-101006376 rs4989267 C→ T exonic unknown UNKNOWN
101006382-101006382 rs4989266 C→ T exonic unknown UNKNOWN
101200727-101200727 rs17393069 G→ A exonic unknown UNKNOWN EXOC4
151668063-151668063 rs35868297exonic nonsynonymous SNV NM_145292:c.A281G:p.H94R
151680072-151680072 rs6960270 exonic; splicing nonsynonymousSNVNM_145292:c.T370C:p.C124R
42003662-42003662 rs5883809 UTR3 - T
42088222-42088222 rs846266exonic nonsynonymous SNV NM_000168:c.A547G:p.T183A
42005678-42005678 rs929387 exonic nonsynonymous SNV NM_000168:c.C2993T:p.P998L
126542667-126542667 rs78124913exonic nonsynonymous SNV NM_000845:c.T1085A:p.F362Y
19058743-19058743 rs10511670exonic nonsynonymousSNV NM_001270890:c.C1917G:p.H639Q
139246500-139246500 rs11477534 UTR3 C -
139249948 -139249948 . UTR3 A -
123152019-123152019 rs10255061exonic nonsynonymous SNV NM_178827:c.G376A:p.V126M
107746432-107746432 rs2074749 exonic nonsynonymous SNV NM_007356:c.C700T:p.H234Y
104437140-104437140 C→ T ncRNA_exonic
78636486-78636486 exonic nonsynonymous SNV NM_012301:c.A338G:p.N113S
131177494-131177494 rs147796119 UTR3 A -
131175980-131175980 . UTR3 - A
82435033-82435033 rs12668093exonic synonymous SNV NM_033026:c.G14904A:p.G4968G
82453708-82453708 rs2522833 exoninonsynonymous SNV NM_014510:c.T14440G:p.S4814A
82764425-82764425 rs2877 exonic nonsynonymous SNV NM_014510:c.G2441C:p.S814T
82784832-82784832 rs77721383exonic nonsynonymous SNV NM_014510:c.G1125C:p.Q375H
82581494-82581494 rs78195222exonic nonsynonymous SNV NM_014510:c.A8775T:p.E2925D
82581859-82581859 rs976714 exonic nonsynonymous SNV NM_014510:c.G8410A:p.A2804T
82582846-82582846 rs10954696exonic nonsynonymous SNV NM_014510:c.G7423A:p.V2475I
31815326-31815326 rs74905175exonic nonsynonymousSNV NM_001191057:c.G1912A:p.G638S
32209425-32209425 rs977625 exonic nonsynonymous SNV NM_001191058:c.T280C:p.S94P
32338337-32338337 rs215607exonic nonsynonymous SNV NM_001191058:c.C11T:p.A4V
77552127-77552127 rs848486 exonic nonsynonymousSNV NM_001127359:c.G1049A:p.R350H
47851623-47851623 rs73692834exonic nonsynonymous SNV NM_138295:c.G7373A:p.R2458Q
47852837-47852837 rs2290386 exonicnonsynonymous SNV NM_138295:c.G7228A:p.E2410K
47879049-47879049 rs76100363exonic nonsynonymous SNV NM_138295:c.C5764T:p.R1922W
47913579-47913579 rs1470859exonic nonsynonymous SNV NM_138295:c.A3814G:p.K1272E
47925331-47925331 rs10274334exonic nonsynonymous SNV NM_138295:c.G3158C:p.R1053P
47968927-47968927 rs2686817 exonic nonsynonymous SNV NM_138295:c.G934T:p.V312F
47917087-47917087rs72601626exonic;splicing synonymousSNVNM_138295:c.G3663A:p.P1221P
47921682-47921682 rs10951936 exonic; splicingsynonymous SNV NM_138295:c.T3267A:p.A1089A
47925525-47925525 rs57109564exonic nonsynonymous SNV NM_138295:c.C2964A:p.F988L
131812655-131812657 rs35210459 UTR3 ATC -
131812750-131812750 rs151238048 UTR3 - AA
132070054-132070054rs741664exonic;splicingnonsynonymousSNV NM_001105543:c.A1372G:p.M458V PON2
1164277-1164277 rs2279279 exonic nonsynonymous SNV NM_012445:c.G724C:p.V242L
1165130-1165130 rs11247975 exonic nonsynonymous SNV NM_012445:c.C365A:p.A122E
1165741- 1165741 rs922697 exonic nonsynonymous SNV NM_012445:c.T119C:p.L40P
39379325-39379325 rs2074936 exonicnonsynonymous SNV NM_001166018:c.C596T:p.P199L
157931144-157931144 rs1130499exonic nonsynonymous SNV NM_130842:c.G923A:p.S308N
157959895-157959895 rs1130496exonic nonsynonymous SNV NM_130842:c.G587A:p.R196H
157959911-157959911 rs1130495 exonic nonsynonymous SNV NM_130842:c.T571C:p.S191P
157985149-157985149 rs3800855exonic nonsynonymous SNV NM_130842:c.G368C:p.S123T 157931144-157931144 rs1130499exonic nonsynonymous SNV NM_130842:c.G923A:p.S308N
157959895-157959895 rs1130496 exonic nonsynonymousSNV NM_130842:c.G587A:p.R196H
157959911-157959911 rs1130495 exonic nonsynonymous SNV NM_130842:c.T571C:p.S191P
157985149-157985149 rs3800855exonic nonsynonymous SNV NM_130842:c.G368C:p.S123T 5112035-5112035 rs7780525 exonic nonsynonymous SNV NM_001204513:c.C281T:p.A94V
103179594 -103179594 rs79377093exonic nonsynonymousSNVNM_005045:c.G7111A:p.A2371T
5800769-5800769 rs3857756 A→ G splicing
4308362-4308362 rs8514 exonic nonsynonymous SNV NM_001079653:c.C2020T:p.R674C
4213975-4213975 rs671694 exonic nonsynonymous SNV NM_001079653:c.A383G:p.H128R
83590140-83590140 rs142704337 UTR3 - T
83824113-83824113 rs36048075 UTR5 A -
83824176-83824176 UTR5 - A
139653196-139653196 rs5768 exonic nonsynonymous SNV NM_001061:c.A483C:p.E161D
88963039-88963039 rs1916830 exonic nonsynonymous SNV NM_181646:c.G743A:p.C248Y
88964196-88964196 rs74687205exonic nonsynonymous SNV NM_181646:c.T1900A:p.F634I
88964226-88964226 rs79931924exonic nonsynonymous SNV NM_181646:c.C1930A:p.P644T
88964227-88964227 rs76870774exonic nonsynonymous SNV NM_181646:c.C1931G:p.P644R
88965141-88965141 rs6962993exonic nonsynonymous SNV NM_181646:c.A2845G:p.N949D
88965609-88965609 rs6963781exonic nonsynonymous SNV NM_181646:c.A3313G:p.M1105V
149543269-149543269 rs62621204exonicnonsynonymousSNVNM_001099220:c.C166T:p.R56C
no. 8 karyomit(e) of chromosome 8()
1833801-1833801 rs9657362 exonic nonsynonymous SNV NM_014629:c.G1110C:p.L370F
62602295-62602295 . UTR5 - A
62550924 - 62550924 rs11384131 splicing - A
62413201-62413204 rs148273510 UTR3 AAAC -
2909992-2909992 rs6558702 exonic nonsynonymous SNV NM_033225:c.C7652T:p.T2551M
2820745-2820745 rs667859 exonic;splicing synonymousSNV NM_033225:c.C9453G:p.L3151L
113241088-113241088 rs1592624exonic nonsynonymousSNVNM_052900:c.A10354C:p.N3452H
114186003-114186003 rs2219898 exonic nonsynonymous SNV NM_052900:c.A657G:p.I219M
12942119-12942119 rs34605265 UTR3 A -
13356802-13356802 rs3816747 exonic nonsynonymous SNV NM_024767:c.C779T:p.T260I
13356818-13356818 rs11203494 exonic nonsynonymous SNV NM_024767:c.A763G:p.N255D
13356819-13356819 rs11203495exonic nonsynonymous SNV NM_024767:c.A762C:p.Q254H
13357340-13357340 rs3816748 exonic nonsynonymous SNV NM_024767:c.C241G:p.L81V
120577150-120577150 rs16892767exonicnonsynonymousSNVNM_001040092:c.C2177T:p.S726L
120596023-120596023 rs10283100exonic nonsynonymousSNVNM_001040092:c.T1477C:p.S493P
104337367-104337367rs3808553exonic nonsynonymousSNVNM_001164615:c.A1033C:p.M345L
145223288-145223288 rs34819224exonic nonsynonymousSNVNM_001099281:c.C113T:p.A38V
133140755 -133140758 rs10546524 UTR3 TGTG -
124658203-124658203rs72711231exonicnonsynonymousSNVNM_001081675:c.A1522G:p.K508E
124663987-124663987rs16898691exonicnonsynonymousSNVNM_001081675:c.G1180C:p.G394R
124664130-124664130rs11780509exonicnonsynonymousSNVNM_001081675:c.G1037A:p.R346K
124664167-124664167 rs11784192exonicnonsynonymousSNVNM_001081675:c.A1000G:p.I334V
124664874-124664874 rs7386562exonic nonsynonymousSNVNM_001081675:c.A293G:p.H98R
98991221-98991221 rs1869609 exonic nonsynonymous SNV NM_002380:c.A1066G:p.K356E
6296550-6296550 rs2442513 exonic nonsynonymous SNV NM_001172574:c.G513T:p.R171S
6302183-6302183rs930557 exonic nonsynonymous SNV NM_001172575:c.G796C:p.D266H
6302418-6302418rs2515569 exonic nonsynonymous SNV NM_001172575:c.A1031G:p.D344G
6479042-6479042 rs1057090 exonic nonsynonymous SNV NM_024596:c.C2282T:p.A761V
6500544-6500544 rs1057091 exonic nonsynonymous SNV NM_024596:c.C2482T:p.P828S
125565328-125565328 rs3829037exonic nonsynonymous SNV NM_014751:c.A2173G:p.T725A
71039118-71039118 rs2228591exonic nonsynonymous SNV NM_006540:c.G3846C:p.M1282I
71039118-71039118 rs2228591exonic nonsynonymous SNV NM_006540:c.G3846C:p.M1282I
32453358-32453358 rs3924999exonic nonsynonymous SNV NM_001160002:c.G113A:p.R38Q
32621844-32621844 rs75155858exonic nonsynonymous SNV NM_013957:c.G1838T:p.G613V
133053309-133053309 rs7386782exonicnonsynonymousSNVNM_001080399:c.A439G:p.S147G
133053318-133053318 rs7386783exonicnonsynonymousSNVNM_001080399:c.A430G:p.N144D
107763508-107763508 rs58749938 UTR3 T -
18388977-18388977 rs10693838 UTR3 - GCC
18729496-18729496 rs13263453exonic nonsynonymous SNV NM_015310:c.C878T:p.P293L
18729817-18729817 rs59018241exonic nonsynonymous SNV NM_015310:c.C557T:p.T186M
18729818 -18729818 rs7003060exonic nonsynonymous SNV NM_015310:c.A556C:p.T186P
52321243-52321243 rs2977020exonic nonsynonymous SNV NM_144651:c.A2941G:p.M981V
52321686-52321686 rs11985241exonic nonsynonymous SNV NM_144651:c.G2498A:p.S833N
52325767-52325767 rs16916207exonic nonsynonymous SNV NM_144651:c.A1847C:p.D616A
52366156-52366156 rs79394014exonic nonsynonymous SNV NM_144651:c.G1172A:p.R391Q
105264087-105264087 rs145529306 UTR3 - AA
105264087-105264087 rs145529306 UTR3 - A
119209544-119209544 . UTR3 - T
119202748-119202749 rs111830017 UTR3 GT -
97614661-97614661 rs1042381 exonic nonsynonymous SNV NM_002998:c.T211A:p.S71T
22262321-22262321 rs896378 exonic nonsynonymous SNV NM_001128431:c.T98C:p.L33P
30999280-30999280 rs1801195exonic nonsynonymous SNV NM_000553:c.G3222T:p.L1074F
30921935-30921935 rs2230009 exonic nonsynonymous SNV NM_000553:c.G340A:p.V114I
106813518-106813518 rs11993776exonic nonsynonymous SNV NM_012082:c.C1208G:p.A403G 195254-195254 rs2074718 exonic nonsynonymous SNV NM_001042415:c.C407A:p.T136K
196274-196274rs2072174exonicnonsynonymousSNV NM_001042415:c.T1427G:p.V476G chromosome 9(Chromosome 9)
72045455-72045455 rs145279892 UTR3 - TG
72045456 -72045459 rs145279892 UTR3 TGTG -
16413188-16413188 rs34575896 UTR3 T -
16414917-16414918 . UTR3 TT -
16418662-16418662 . UTR3 - TG
16418871-16418871 . UTR3 - CACA
16413355-16413355 rs150897898 UTR3 T -
16417154 -16417154 rs138764300 UTR3 A -
16409923-16409923 rs112496248 UTR3 - AAAA
16414917-16414917 . UTR3 T -
123769200-123769200 rs17611 exonic nonsynonymous SNV NM_001735:c.G2404A:p.V802I
17299685-17299685 rs57037351 UTR3 - T
17299823 -17299823 . UTR3 T -
17394536 -17394536 rs7035276exonic nonsynonymous SNV NM_017738:c.C2084T:p.T695I
17273754-17273754 rs3808794 exonic nonsynonymous SNV NM_001114395:c.A873C:p.E291D
17273731-17273731rs3808795exonic;splicing nonsynonymousSNV NM_001114395:c.A850G:p.T284A
17135177-17135177 exonic synonymous SNV NM_001114395:c.C114G:p.A38A
116931099-116931099 rs2241671 exonic nonsynonymousSNV NM_032888:c.G1264A:p.A422T
117050998-117050998 rs10982134exonic nonsynonymousSNV NM_032888:c.G4061A:p.R1354Q
117071744-117071744 rs3736252exonic nonsynonymousSNV NM_032888:c.A5422G:p.M1808V
137735001-137735001 rs57599653 UTR3 - T
137707834-137707834 rs3827848exonic;splicing synonymousSNVNM_000093:c.G4122A:p.T1374T
114393784-114393784 rs10980984exonic nonsynonymous SNV NM_001015882:c.G97A:p.V33M
286491-286491 rs3209441 exonic nonsynonymous SNV NM_203447:c.G187A:p.D63N
286593-286593 rs529208 exonic nonsynonymous SNV NM_001190458:c.C85A:p.P29T
368128-368128 rs17673268 exonic nonsynonymous SNV NM_001190458:c.C1586T:p.A529V
14737060-14737060 rs139463939 UTR3 - A
14801769-14801769 rs79023327exonic nonsynonymous SNV NM_144966:c.G3575A:p.R1192H
14737506-14737506 rs10961689exonic nonsynonymousSNVNM_001177704:c.A2036C:p.Q679P
14801738-14801738 rs16932300exonic nonsynonymous SNV NM_144966:c.C3606G:p.S1202R
14819370-14819370 rs7023244exonic nonsynonymous SNV NM_144966:c.C2408A:p.S803Y
14776140-14776140 rs10961700exonic nonsynonymous SNV NM_001177704:c.G112A:p.V38M
14816829-14816829 rs7041710 exonic nonsynonymous SNV NM_144966:c.C2587G:p.L863V
14846036-14846036 rs2779500exonic nonsynonymous SNV NM_144966:c.G1315C:p.V439L
3824895-3824895 . UTR3 T -
3826471-3826471 rs141651297 UTR3 - G
4118111-4118111 rs6415788exonic nonsynonymous SNV NM_152629:c.C902A:p.P301Q
4118208-4118208 rs806052exonic nonsynonymous SNV NM_152629:c.T805C:p.S269P
124095004-124095005 rs66991108 UTR3 TT -
124065224-124065224 rs2230287 exonic nonsynonymous SNV NM_000177:c.G385A:p.A129T
712156- 712156 rs912174 exonic nonsynonymous SNV NM_153186:c.T916G:p.S306A
7046917-7046917rs1417290exonic;splicing nonsynonymousSNVNM_001146694:c.A2315G:p.K772R
6984236-6984236 rs2296067exonic nonsynonymous SNV NM_001146694:c.G1186A:p.D396N
87638505 -87638505 . UTR3 - A
78808329-78808329 rs146616889 UTR3 - AAAA
78936358-78936358 rs1110222exonic nonsynonymousSNVNM_001190482:c.G3824A:p.G1275D
78936492-78936492 rs1110223 exonicnonsynonymousSNVNM_001190482:c.A3958G:p.K1320E
78937974-78937974 rs3001772 exonicnonsynonymousSNVNM_001190482:c.C4028T:p.T1343M
78938043-78938043 rs2495207 exonicnonsynonymousSNV
NM_001190482:c.G4097A:p.R1366H
78938186-78938186 rs2803429 exonic nonsynonymousSNV NM_001190482:c.G4240C:p.E1414Q
78942956-78942956 rs2259969 exonic synonymous SNV NM_001190482:c.A4290G:p.S1430S
70999315-70999315rs17081271exonic;splicing synonymousSNV NM_021965:c.T426C:p.G142G
7931867779318677rs561970exonic nonsynonymous SNV NM_015225:c.A7852G:p.S2618G
79318998-79318998 rs620552exonic nonsynonymous SNV NM_015225:c.T7531C:p.S2511P
79320095-79320095 rs3739524 exonic nonsynonymous SNV NM_015225:c.A7095C:p.L2365F
79320640-79320640 rs512110exonic nonsynonymous SNV NM_015225:c.G6550A:p.A2184T
79320847-79320847 rs2077181exonic nonsynonymous SNV NM_015225:c.C6343G:p.Q2115E
79321276-79321276 rs517634 exonic nonsynonymous SNV NM_015225:c.A5914G:p.T1972A
79322674-79322674 rs680775 exonic nonsynonymous SNV NM_015225:c.T4516C:p.C1506R
79324955-79324955 rs11145017exonic nonsynonymous SNV NM_015225:c.G2235A:p.M745I
79319874-79319874 rs3739523 exonic nonsynonymous SNV NM_015225:c.G7316T:p.S2439I
79323853-79323853 exonic nonsynonymous SNV NM_015225:c.G3337A:p.D1113N
98209594-98209594 rs357564 exonic nonsynonymous SNV NM_000264:c.C3944T:p.P1315L
98209594-98209594 rs357564 exonic nonsynonymous SNV NM_000264:c.C3944T:p.P1315L
98211572-98211572 rs2236405exonic nonsynonymous SNV NM_000264:c.A3583T:p.T1195S
8315940-8315941 rs35171546 UTR3 AT -
8315950-8315950 . UTR3 - GTT
8315953-8315953 . UTR3 G -
8317266-8317266 . UTR3 - TAAC
135139194-135139195 rs142467958 UTR3 TC -
135139826-135139826 rs3739927exonic nonsynonymousSNVNM_015046:c.A7834G:p.S2612G
135139901-135139901 rs1056899exonic nonsynonymousSNVNM_015046:c.A7759G:p.I2587V
135173685-135173685 rs2296871 exonic nonsynonymousSNVNM_015046:c.A5563G:p.T1855A
135205006-135205006 rs882709 exonic nonsynonymous SNV NM_015046:c.C1979G:p.A660G
135206491-135206491 exonic nonsynonymous SNV NM_015046:c.T1046C:p.M349T
135203530-135203530 rs3739922 exonic nonsynonymousSNV NM_015046:c.T3455G:p.F1152C 91628056-91628056 . UTR3 -
113132221-113132221 rs17204533exonic nonsynonymousSNVNM_153366:c.C10676T:p.T3559M
113169631-113169631 rs7030192 exonic nonsynonymousSNVNM_153366:c.C8249T:p.A2750V
113196733-113196733 rs7852962 exonic nonsynonymousSNVNM_153366:c.T4942G:p.L1648V
113208250-113208250 rs7863519 exonic nonsynonymousSNVNM_153366:c.A4330C:p.M1444L
113221247-113221247rs7038903 exonic nonsynonymousSNVNM_153366:c.A3469G:p.I1157V
113261483-113261483 rs872665 exonic nonsynonymous SNV NM_153366:c.G1519A:p.V507I
113192655 -113192655rs2986671exonic nonsynonymousSNV NM_153366:c.A5429C:p.E1810A
113275227-113275227 rs10980419exonic nonsynonymous SNV NM_153366:c.G1282A:p.G428S
93658485-93658485 rs113920845 UTR3 - A
131570317-131570317 rs3833695 UTR3 - CTT
131570688-131570689 rs10692611 UTR3 GT -
131565554-131565554 rs1572912exonic nonsynonymous SNV NM_018201:c.T569C:p.V190A
27168571-27168571 rs35969327exonic nonsynonymous SNV NM_000459:c.T443C:p.I148T
27183463-27183463 rs682632 exonic nonsynonymous SNV NM_000459:c.A1037C:p.Q346P
27197486-27197486 rs35030851exonic nonsynonymous SNV NM_000459:c.G1798T:p.V600L
73150984-73150984 rs6560142 exonic nonsynonymous SNV NM_206944:c.G4520A:p.R1507Q
35231191-35231191 exonic nonsynonymous SNV NM_006377:c.C127T:p.P43S
131515547-131515547 rs8507exonic synonymous SNV NM_006336:c.C642A:p.A214A
116812723-116812724 rs113819665 UTR3 CA -
116817988 - 116817988 UTR3 - A
no. 10 karyomit(e) of chromosome 10()
1230968-1230968 rs2271275 exonic nonsynonymous SNV NM_018702:c.G1876A:p.A626T
1421326-1421326 rs3793733 exonic nonsynonymous SNV NM_018702:c.G130A:p.A44T
99019287-99019287 rs61751502exonic nonsynonymousSNV NM_001204300:c.C712T:p.P238S
104436020-104436021 rs111805764 UTR3 TT -
104436296-104436296 . UTR3 T -
28260151-28260151 rs4405206 exonic nonsynonymous SNV NM_018076:c.T1028C:p.I343T
28101455-28101455 rs3737184 exonic nonsynonymousSNV NM_018076:c.G3121T:p.A1041S
28224075-28224075 rs35242712exonic nonsynonymous SNV NM_018076:c.C2359T:p.R787C
28228926-28228926 rs35472668 exonic nonsynonymousSNV NM_018076:c.G1997A:p.R666Q 124089036-124089036 rs2421013exonic nonsynonymousSNV NM_144587:c.G953A:p.R318Q
124096061-124096061 rs1048347 exonic nonsynonymousSNV NM_144587:c.A1316C:p.H439P
124096160-124096160rs10510108exonic nonsynonymousSNV NM_144587:c.A1415G:p.Q472R
124089075-124089075 rs986178 exonic nonsynonymousSNV NM_144587:c.G992A:p.G331D
18829981-18829981 rs33980121 UTR3 - TGTT
119967243-119967243 rs1369 T→ G ncRNA_exonic
32745248-32745248 rs56391924exonic nonsynonymousSNVNM_001026383:c.A442C:p.K148Q
32856746-32856746 rs12268559exonic nonsynonymousSNVNM_001026383:c.A1346C:p.K449T
73555802-73555802 rs112212755 UTR5 - GAG
73434906-73434906 rs10999947 exonic nonsynonymousSNVNM_001171930:c.G1487A:p.S496N
73492079-73492079 rs1227065exonicnonsynonymousSNVNM_001171930:c.A4051G:p.N1351D
73501556-73501556 rs1227051 exonic nonsynonymousSNVNM_022124:c.G4723A:p.A1575T
73537614-73537614 rs17712523 exonic nonsynonymousSNVNM_022124:c.G5023A:p.V1675I
73550117-73550117 rs11592462 exonic nonsynonymousSNVNM_022124:c.C5996G:p.T1999S
73550969-73550969 rs10466026exonic nonsynonymousSNV NM_022124:c.G6130A:p.E2044K
73558886-73558886 rs4747194 exonic nonsynonymousSNVNM_001171933:c.G353A:p.R118Q
73558952-73558952 rs4747195 exonic nonsynonymousSNVNM_001171933:c.C419T:p.P140L
73558958-73558958 exonic nonsynonymous SNV NM_001171933:c.G425A:p.R142Q
73571765-73571765 rs45583140 exonic nonsynonymousSNVNM_001171933:c.T2653C:p.F885L
73434888-73434888 rs1227049exonic nonsynonymousSNV NM_001171930:c.G1469C:p.G490A 101977883- 101977883 rs2230804 exonic nonsynonymousSNVNM_001278:c.G802A:p.V268I
125506302-125506302rs7088479 exonic nonsynonymousSNV NM_198148:c.A2249G:p.Q750R
125530451-125530451 exonic nonsynonymous SNV NM_198148:c.C1083A:p.H361Q
43678796-43678796 rs2435381 exonic nonsynonymous SNV NM_018590:c.C1435T:p.P479S
16943371-16943371 rs2796835 exonic nonsynonymousSNVNM_001081:c.C8150G:p.S2717W
16967401-16967401 rs1276712exonic nonsynonymousSNVNM_001081:c.G6485A:p.C2162Y
16979606-16979606 rs2356590 exonic nonsynonymousSNVNM_001081:c.C5911A:p.P1971T
16982061-16982061 rs2271462 exonic nonsynonymousSNVNM_001081:c.G5518A:p.G1840S
17024503-17024503 rs1801231exonic nonsynonymousSNVNM_001081:c.C4675T:p.P1559S
17147521-17147521 rs1801224exonic nonsynonymous SNV NM_001081:c.C1165A:p.P389T
17156151-17156151 rs1801222 exonic nonsynonymous SNV NM_001081:c.T758C:p.F253S
16979714-16979714 rs41289305exonic nonsynonymousSNVNM_001081:c.A5803G:p.S1935G
16948390-16948390 rs1801236 exonic nonsynonymousSNV NM_001081:c.C7724G:p.P2575R 129249662-129249662rs2229603exonic nonsynonymousSNV NM_001380:c.G5569A:p.A1857T
25888180-25888180 rs10828833 exonic nonsynonymousSNVNM_020752:c.A3625G:p.I1209V
25701341-25701341 rs2480345 exonic nonsynonymous SNV NM_020752:c.C1274G:p.A425G
88126072-88126072 rs61856638 exonic;splicing synonymousSNVNM_017551:c.C78T:p.I26I
7602927-7602927 rs149819468 UTR3 T -
7603006-7603006 rs140239811 UTR3 A -
7601403 -7601403 . UTR3 - ACTG
7605067-7605067 rs3824658 exonic nonsynonymous SNV NM_032817:c.G2165A:p.R722Q
7605101-7605101 rs10795551exonic nonsynonymous SNV NM_032817:c.T2132C:p.F711S
7618686-7618686 rs2275069 exonic nonsynonymous SNV NM_032817:c.A1066C:p.T356P
7659233-7659233 rs76441793exonic nonsynonymous SNV NM_032817:c.C23T:p.P8L
24790335-24790335rs116844906 exonic nonsynonymousSNVNM_001098501:c.T1757C:p.M586T
126172863-126172863rs6597801exonic nonsynonymousSNV NM_001167880:c.A281G:p.Q94R
126172863-126172863rs6597801exonic nonsynonymousSNV NM_001167880:c.A281G:p.Q94R
91007360-91007360 rs1051338 exonic nonsynonymous SNV NM_000235:c.A46C:p.T16P
91007360-91007360 rs1051338 exonic nonsynonymous SNV NM_000235:c.A46C:p.T16P
91007339-91007339 rs1051339exonic nonsynonymous SNV NM_000235:c.G67A:p.G23R
90512306-90512306 rs1214464 exonic nonsynonymousSNV NM_001080518:c.G993C:p.M331I
29578084-29578084 rs2532753 exonic nonsynonymous SNV NM_032517:c.A38G:p.K13R
29599972-29599972 rs41289053exonic nonsynonymous SNV NM_032517:c.G569A:p.G190D
28340815-28340815 rs11292957 UTR3 A -
28378758-28378758 rs2997211 exonic nonsynonymous SNV NM_173496:c.A965G:p.K322R
33623695-33623695 rs112380258 UTR5 - A
33552696-33552696 rs7079053 exonic nonsynonymousSNV NM_001024628:c.T536C:p.V179A
55565805- 55565805 rs142236670 UTR3 - TAAT
55568972-55568972 rs11003863 T→ G exonic unknown UNKNOWN
55569202-55569202 rs16937769 T→ G exonic unknown UNKNOWN
55955444-55955444rs4935502exonic;splicing nonsynonymousSNVNM_001142767:c.A1193C:p.D398A
56423968-56423968 rs11004439exonic nonsynonymous SNV NM_001142763:c.T55G:p.S19A 98469507- 98469507 rs3748229exonic nonsynonymous SNV NM_152309:c.G247T:p.A83S
22825887 -22825887 rs148117795 UTR3 C -
22825897-22825898 rs113320823 UTR3 AC -
22839628-22839628 rs10828317 exonic nonsynonymous SNV NM_005028:c.A752G:p.N251S
20569079-20569079 . UTR3 A -
20506418-20506418 rs3817405exonic nonsynonymous SNV NM_032812:c.G1186A:p.V396I
20534333-20534333 rs2778979exonic nonsynonymous SNV NM_032812:c.A1372G:p.I458V 52751088- 52751088 rs35361017 UTR5 - GCT
53822301-53822301 rs34997494exonic nonsynonymousSNVNM_001098512:c.A800G:p.N267S
100144782-100144782 rs2296441 exonic nonsynonymousSNV NM_032709:c.G1597A:p.A533T
100148176 -100148176 rs2147896 exonic nonsynonymousSNV NM_032709:c.T1382C:p.M461T
61410745-61410745 rs71467072 UTR3 - T
61414011-61414011 rs2242206 exonic nonsynonymous SNV NM_194298:c.C773A:p.T258K
108333819-108333819 rs111673496 UTR3 - A
108333819-108333819 rs111673496 UTR3 - TA
108338917-108338917rs11192966exonicnonsynonymousSNVNM_001013031:c.A3464G:p.N1155S
8006798-8006798 rs4747647 exonic nonsynonymous SNV NM_031923:c.A1325G:p.N442S
8007559-8007559 rs10795583 exonic nonsynonymous SNV NM_031923:c.G2086C:p.V696L
8007560-8007560 rs1244229 exonic nonsynonymous SNV NM_031923:c.T2087C:p.V696A
8005950-8005950 exonic nonsynonymous SNV NM_031923:c.A477C:p.E159D
17204187-17204187 rs11254413 exonic nonsynonymous SNV NM_004412:c.C301T:p.H101Y
49933974-49933974 rs7072606 exonic nonsynonymous SNV NM_020945:c.T640C:p.S214P
49998780-49998780 rs41282009 exonic nonsynonymousSNVNM_020945:c.G4075A:p.V1359I
50013402-50013402 rs2170132 exonic nonsynonymousSNVNM_020945:c.T4582C:p.S1528P
50025396-50025396 rs7097397 exonic nonsynonymousSNVNM_020945:c.G5447A:p.R1816Q
50109902-50109902 rs2663046 exonic nonsynonymousSNVNM_020945:c.G7580A:p.S2527N
50186415-50186415 rs2292584 exonic nonsynonymousSNVNM_020945:c.C9353T:p.P3118L
chromosome 11(o.11 karyomit(e))
34378381-34378381 rs1925368 exonic nonsynonymous SNV NM_145804:c.C750G:p.H250Q
62292882-62292882 rs566144exonic nonsynonymousSNV NM_001620:c.C9007A:p.Q3003K
99690286-99690286 rs10790978exonic nonsynonymousSNVNM_001243270:c.T67G:p.S23A
99690376-99690376 rs12292659 exonic stopgain SNV NM_001243270:c.C157T:p.R53X
99690428-99690428 rs7125822 exonic nonsynonymousSNV NM_001243270:c.T209G:p.L70R
100226883-100226883rs1216183 exonic nonsynonymousSNV NM_175566:c.T3013A:p.S1005T
107286943-107286943rs17106909 exonic nonsynonymousSNVNM_152434:c.G1609A:p.G537R
107299623-107299623rs35968518 exonic nonsynonymousSNVNM_152434:c.T1335G:p.H445Q 83169387-83169387 rs35949430 UTR3 - A
118967758-118967758 rs643788exonic nonsynonymousSNV NM_001382:c.A1177G:p.I393V
6239344-6239344 rs3750944exonic nonsynonymousSNVNM_001098794:c.C1472T:p.T491M
21956108-21956108 rs35497596exonic nonsynonymous SNV NM_022749:c.A943G:p.T315A
76979550-76979550 rs2729772exonic nonsynonymous SNV NM_182833:c.A659G:p.K220R
88241196-88241196 rs3824927 G→ T ncRNA_exonic
88239258-88239258 rs3812729 C→ T ncRNA_exonic
88239456-88239456 rs60954128 C→ T ncRNA_exonic
88240038-88240038 rs12295563 T→ C ncRNA_exonic
88240054-88240054 rs12293881 A→ C ncRNA_exonic
88241597-88241597 rs566277 C→ G ncRNA_exonic
15268574 -15268574 rs112335239 UTR3 T -
25098938-25098938 rs7930185exonic nonsynonymousSNVNM_001252010:c.G796C:p.E266Q
20140134-20140134 rs3839942 UTR3 - G
20142378 -20142381 rs147786889 UTR3 TCAC -
20065673-20065673 rs3802799 exonic nonsynonymousSNVNM_001111019:c.G312T:p.E104D
20065779-20065779 rs3802800 exonic nonsynonymousSNVNM_001111019:c.C418G:p.P140A
20089944-20089944rs1442710exonic;splicing synonymousSNVNM_001111019:c.T2175C:p.N725N
20805286-20805286 rs8176785 exonic nonsynonymous SNV NM_006157:c.G245A:p.R82Q
20959394-20959394 rs8176786 exonic nonsynonymous SNV NM_006157:c.C1060T:p.R354W
48145375-48145375 rs1566734 exonic nonsynonymousSNVNM_001098503:c.A827C:p.Q276P
48146622-48146622 rs1503185 exonic nonsynonymousSNVNM_001098503:c.G977A:p.R326Q
48166267-48166267 rs4752904 exonic nonsynonymous SNV NM_002843:c.G2616C:p.E872D
48145166-48145166rs2270993exonic;splicingsynonymousSNVNM_001098503:c.G618A:p.E206E
63527192-63527192 rs35324379 UTR3 T -
63527341-63527343 . UTR3 AAA -
63487386-63487386 rs542998 exonic nonsynonymousSNVNM_001265590:c.T1076C:p.V359A
13984583-13984583 rs3761859exonic unknown UNKNOWN
14264916-14264916 rs2303973 A→ G exonic unknown UNKNOWN
12965492-12965492 rs139637837 UTR3 - A
12966030-12966030 rs146054971 UTR3 - A
12903443-12903443 rs2304733 exonic;splicingsynonymousSNV NM_021961:c.C513T:p.D171D 87037129-87037129 UTR3 - T
87013438-87013438 rs2276102 exonic nonsynonymousSNVNM_001168724:c.G586A:p.G196R
87032287-87032287 rs11235097 exonic nonsynonymousSNV NM_001168724:c.G1223C:p.G408A
no. 12 karyomit(e) of chromosome 12()
81528625-81528625 rs61745251exonic nonsynonymous SNV NM_024560:c.C487T:p.H163Y
99138457-99138457 UTR3 - T
99138574-99138574 rs111477365 UTR3 T -
6030405-6030405 rs3741903 exonic nonsynonymous SNV NM_020373:c.T323C:p.V108A
666860-666860 rs139446381 exonic nonsynonymous SNV NM_173593:c.G2467A:p.V823I
24969524-24969524 rs112229337 UTR3 - A
7551022-7551022 rs6488268 exonic nonsynonymous SNV NM_174941:c.T1567A:p.L523M
7585971-7585971 rs10845159exonic;splicing synonymousSNV NM_174941:c.T444C:p.Y148Y
1600761-1600761 rs113427953 UTR3 - G
62103396-62103396 rs148711687 UTR3 - A
117383320-117383320 rs4076700 exonic nonsynonymousSNV NM_012174:c.G377A:p.R126Q
102164206-102164206 exonic nonsynonymous SNV NM_024312:c.G1091A:p.R364Q
117892840-117892841 rs60492216 UTR3 AG -
12619002-12619002 rs142991755 UTR3 T -
12618690-12618690 rs3751262 exonic nonsynonymous SNV NM_058169:c.G571A:p.D191N
85638646 -85638646 rs142232627 exonic A -
85432040-85432040 rs7312075 exonic nonsynonymous SNV NM_001079910:c.T86A:p.I29N
85466723-85466723rs17012533exonic nonsynonymousSNV NM_001079910:c.G2734A:p.A912T
78605251-78605251 rs139451011 UTR3 - TTT
78605252-78605252 rs139451011 UTR3 T -
78225374-78225374 rs10735309exonic nonsynonymous SNV NM_014903:c.A133G:p.T45A
78542699-78542699rs366527exonic;splicing synonymousSNV NM_014903:c.T4785C:p.N1595N
117652638-117652638 rs145880725 UTR3 - CA
117649868 -117649868 rs113562322 UTR3 - A
117701714 -117701714 rs2293054 exonic synonymousSNV NM_001204213:c.T1194C:p.I398I
121603210-121603210 exonic nonsynonymous SNV NM_002562:c.A584G:p.N195S
121622304-121622304 rs3751143exonic nonsynonymousSNVNM_002562:c.A1487C:p.E496A
121622520-121622520 rs1653624 exonic nonsynonymousSNVNM_002562:c.A1703T:p.N568I
121600253-121600253 rs208294exonic nonsynonymousSNVNM_002562:c.T463C:p.Y155H
121615131-121615131 rs2230911exonic nonsynonymousSNVNM_002562:c.C1070G:p.T357S
121605355-121605355 rs7958311 exonic non synonymousSNVNM_002562:c.G809A:p.R270H
32944047-32944047 rs143157182 UTR3 A -
33021934-33021934 rs1046116exonic nonsynonymousSNV NM_001005242:c.T1097C:p.L366P
27800746-27800746 rs2194816 exonic nonsynonymousSNVNM_001198916:c.G442T:p.V148L
21623284-21623284 . UTR3 - AAA
60173356-60173356 rs3763980 exonic nonsynonymous SNV NM_004731:c.A1333T:p.T445S
21623284-21623284 UTR3 - AAA
64537561 - 64537561 . UTR3 A -
10771947-10771947 rs142903708 UTR3 - CACA
10782115-10782115 rs3759259 exonic nonsynonymous SNV NM_018423:c.A610G:p.S204G
56814653-56814653 rs2291739exonic nonsynonymousSNVNM_003920:c.C3053T:p.P1018L
56815922-56815922 rs774047exonic nonsynonymous SNV NM_003920:c.G2492A:p.R831Q
56822378-56822378 rs774027exonic nonsynonymous SNV NM_003920:c.A1363T:p.I455L
126140338-126140338 . UTR3 T -
128900005-128900005 rs1683723 exonic nonsynonymousSNVNM_001136103:c.G814A:p.V272I
129153986-129153986 rs4272850 exonic nonsynonymousSNVNM_001136103:c.G1330A:p.V444I
129189941-129189941 rs12424159 exonic nonsynonymousSNV NM_001136103:c.G2428A:p.G810R
128899673-128899673rs11059681 exonic nonsynonymousSNV
NM_001136103:c.A482G:p.H161R
29653885-29653885 UTR3 - G
29653887-29653887 UTR3 - T
29670504-29670504rs12227259exonic;splicing synonymousSNVNM_001193451:c.C2025T:p.R675R
83359519-83359519 exonic nonsynonymous SNV NM_152588:c.A1865G:p.Y622C
no. 13 karyomit(e) of chromosome 13()
95815415-95815415rs3765534 exonic nonsynonymousSNVNM_001105515:c.G2269A:p.E757K
110818598-110818598 rs3742207exonic nonsynonymousSNV NM_001845:c.A4002C:p.Q1334H
110839550-110839550 rs536174exonic nonsynonymousSNVNM_001845:c.A1663C:p.T555P
36346813-36346813 rs141970667 ncRNA_UTR3 A -
36401834-36401834 exonic nonsynonymous SNV NM_001195415:c.G424A:p.V142I
43681661-43681664 rs141469879 UTR3 ACAC -
102374208-102374208 rs139718885 UTR3 - T
39263714-39263714 rs2496423exonic nonsynonymous SNV NM_207361:c.T2233C:p.S745P
39264690-39264690 rs2496425 exonic nonsynonymousSNVNM_207361:c.T3209C:p.F1070S
39430314-39430314 rs9548509 exonic nonsynonymousSNV NM_207361:c.C6977T:p.T2326I
39343822-39343822 rs9603422exonic nonsynonymousSNVNM_207361:c.C5518T:p.R1840W
32776616-32776616 rs61750791exonic nonsynonymousSNVNM_023037:c.T3970A:p.C1324S
92345579-92345579 rs553717exonic nonsynonymous SNV NM_004466:c.C464T:p.A155V
95055795 -95055795 rs144355831 UTR3 - T
95034749-95034749 rs1535692exonic nonsynonymous SNV NM_005708:c.G1234A:p.V412M
51578407-51578407 rs2281992 T C ncRNA_exonic
51594741-51594741 rs1328361 T G ncRNA_exonic
51603768-51603768 rs9568497 T C ncRNA_exonic
51640254- 51640254 rs3790017 A G ncRNA_exonic
51640261-51640261 rs913470 A G ncRNA_exonic
97490098-97490098 . UTR3 A -
47470824-47470824 rs6312exonic nonsynonymous SNV NM_001165947:c.G145A:p.D49N
24411772-24411772 rs7333040exonic nonsynonymous SNV NM_005932:c.A1462G:p.S488G 77619037-77619037 rs56131306 UTR3 T -
109472733-109472733 rs41308564 exonic nonsynonymousSNV NM_001198950:c.G916A:p.V306M
109496813-109496813rs16973313exonic nonsynonymousSNVNM_001198950:c.T1220C:p.M407T
109661274-109661274rs185312080exonic nonsynonymousSNVNM_001198950:c.G2472A:p.M824I
109661359-109661359rs3825491exonic nonsynonymousSNV NM_001198950:c.C2557G:p.P853A
109438084 109438084 rs911973 exonic nonsynonymousSNVNM_001198950:c.T609A:p.D203E
109777503-109777503rs157024exonic nonsynonymousSNV NM_001198950:c.A3579G:p.I1193M
66877255-66877255 . UTR3 - T
99356611-99356611 rs2274828exonic nonsynonymous SNV NM_005073:c.G1348A:p.V450I
99376181-99376181 rs2297322 exonic nonsynonymous SNV NM_005073:c.G350A:p.S117N
75884216-75884216 rs1062087exonic nonsynonymous SNV NM_014832:c.G2455A:p.V819I
75915261-75915261 rs9565152exonic;splicing synonymousSNV NM_014832:c.T1611G:p.S537S
114175032-114175032 rs2260335exonic nonsynonymousSNVNM_017905:c.G1327A:p.A443T
114175038-114175038 rs7319493exonic nonsynonymousSNVNM_017905:c.G1333A:p.A445T
no. 14 karyomit(e) of chromosome 14()
33291487-33291487 exonic nonsynonymous SNV NM_004274:c.G4468A:p.E1490K
33291494-33291494 rs11845640exonic nonsynonymousSNV NM_004274:c.C4475T:p.A1492V
33293122-33293122 rs1051695 exonic nonsynonymousSNV NM_004274:c.A6103G:p.N2035D
33293531-33293531 rs4647899 exonic nonsynonymousSNV NM_004274:c.T6512A:p.F2171Y
96771959-96771959 rs2289622 exonic nonsynonymousSNVNM_018036:c.T4700C:p.I1567T
96781912-96781912 rs9323945 exonic nonsynonymousSNVNM_018036:c.A3370G:p.N1124D
99637947- 99637947 rs56999125 UTR3 - T
89622980-89622980 . UTR3 T -
89627649-89627649 . UTR3 - T
65878847 -65878847 rs34007703 ncRNA_exonic - G
65878847-65878847 rs34007703 ncRNA_exonic - G
65878847-65878847 rs34007703 ncRNA_exonic - G
65878909-65878909 rs1953417 C T ncRNA_exonic
66136163-66136163 rs35949016exonic nonsynonymous SNV NM_004480:c.C311A:p.T104K
65878395-65878395 rs2411822 A G ncRNA_exonic
65878807-65878807 rs1953416 C T ncRNA_exonic
65877493-65877493 rs72714425 T A ncRNA_exonic
65878256-65878256 rs3759680 T C ncRNA_exonic
88651826-88651826 rs35825809 UTR3 - AC
90651033-90651033 rs3814848 exonic nonsynonymous SNV NM_022054:c.G913A:p.G305R
48143852-48143852 rs78711719 exonic nonsynonymousSNVNM_001113498:c.G148A:p.G50S
47426637-47426637 rs12590500exonic nonsynonymousSNV NM_001113498:c.G2029T:p.V677F
79746443- 79746443 rs113717753 UTR5 T -
80329861-80329861 rs72012481 UTR3 A -
23794844-23794844 rs113497465 UTR3 T -
23795205-23795206 rs111436556 UTR3 TT -
56764488-56764488 rs113951168 UTR3 T -
56767165 -56767165 rs145866704 UTR3 T -
61449328-61449328 rs976272 exonic nonsynonymousSNV NM_001172702:c.T208A:p.L70M
61512802-61512802 rs117560154exonic nonsynonymousSNV NM_001172702:c.T842C:p.M281T
61517256-61517256 rs74825213exonic nonsynonymousSNV NM_001172702:c.G952A:p.G318S
102894593-102894593 rs1309353 exonic nonsynonymousSNV NM_001172631:c.G958A:p.V320I
102900938-102900938rs150893437exonic nonsynonymousSNVNM_001172631:c.C1784T:p.T595M
102901201-102901201rs10149146exonic nonsynonymousSNVNM_001172631:c.A2047G:p.I683V
no. 15 karyomit(e) of chromosome 15()
84488636-84488636 rs4483821 exonic nonsynonymous SNV NM_207517:c.A437G:p.H146R
84539619-84539619 rs4144691exonic nonsynonymous SNV NM_207517:c.C868G:p.L290V
84582124-84582124 rs4842838 exonic nonsynonymous SNV NM_207517:c.G1981T:p.V661L
84639350-84639350 rs2277849 exonic nonsynonymous SNV NM_207517:c.C2605T:p.L869F
86290602-86290602 rs35311407 UTR3 - ATCA
86122654-86122654 rs2061821 exonic nonsynonymous SNV NM_006738:c.T1355C:p.M452T
86122779-86122779 rs2061822exonic nonsynonymous SNV NM_006738:c.T1480C:p.W494R
86123019-86123019 rs2061824 exonic nonsynonymous SNV NM_006738:c.C1720T:p.R574C
86123833-86123833 rs4075256 exonic nonsynonymous SNV NM_006738:c.T2534C:p.V845A
86123988-86123988 rs4075254exonic nonsynonymous SNV NM_006738:c.G2689A:p.V897M
86124483-86124483 rs4843074 exonic nonsynonymousSNVNM_006738:c.C3184G:p.P1062A
86124555-86124555 rs4843075 exonic nonsynonymousSNVNM_006738:c.G3256A:p.D1086N
86124946-86124946 rs7162168 exonic nonsynonymousSNVNM_006738:c.T3647C:p.M1216T
86287867-86287867rs2614668 exonic nonsynonymousSNV NM_001270546:c.G4264A:p.A1422T
69072346-69072346 rs3214818 UTR3 - G
69097606-69097606 rs2958405 G A ncRNA_exonic
69097606-69097606 rs2958405 G A ncRNA_exonic
69097595-69097595 rs28474727 C A ncRNA_exonic
69097596-69097596 rs28599719 T C ncRNA_exonic
25925094-25925094 rs3816800 exonic nonsynonymousSNVNM_024490:c.G3894C:p.R1298S
25926198-25926198 rs2076742 exonic nonsynonymousSNVNM_024490:c.G3516C:p.W1172C
25926179- 25926179 rs2076744 exonic nonsynonymousSNVNM_024490:c.G3535A:p.A1179T
57731335-57731335 rs1280395 exonic nonsynonymous SNV NM_032866:c.A1138C:p.T380P
57731573-57731573 rs7182648exonic nonsynonymous SNV NM_032866:c.C1376T:p.S459F
57731728-57731728 rs1280396 exonic nonsynonymous SNV NM_032866:c.A1531G:p.T511A
75042157-75042157 exonic stopgain SNV NM_000761:c.G78A:p.W26X
40259848-40259848 rs2291627 exonic nonsynonymousSNVNM_001013703:c.A1321C:p.I441L
40265799-40265799 rs2307105exonic nonsynonymousSNVNM_001013703:c.A1667G:p.E556G
40313141-40313141 rs3207297 exonic synonymousSNV NM_001013703:c.C4215T:p.G1405G
40284406-40284406 rs17848491exonic nonsynonymousSNVNM_001013703:c.G2662C:p.D888H 43500462-43500462 exonic nonsynonymous SNV NM_000119:c.G1131T:p.Q377H ETFA
76578762-76578762 rs1801591exonic nonsynonymousSNV NM_001127716:c.C365T:p.T122I
33058732-33058732 rs142558861 UTR3 C -
33063289-33063289 rs143185650 UTR3 - T
33359574-33359574 rs11858145exonic nonsynonymousSNVNM_001103184:c.G512T:p.G171V
99503100 -99503102 UTR3 TAT -
99503527-99503529 UTR3 TTG -
99506444- 99506445 rs145408620 UTR3 TT -
99501930-99501930 rs139634323 UTR3 A -
99506443 -99506445 rs145408620 UTR3 TTT -
99506443-99506444 rs145408620 UTR3 TT -
68605169-68605169 rs4777035 exonic nonsynonymousSNVNM_001004439:c.C2915T:p.P972L
68612556-68612556 rs2271724exonic synonymousSNV NM_001004439:c.A2583G:p.S861S
68624396-68624396 rs7168069 exonic nonsynonymousSNVNM_001004439:c.T1571G:p.L524R
58838010-58838010 rs6083exonic nonsynonymous SNV NM_000236:c.A644G:p.N215S
58853079-58853079 rs3829462 exonic nonsynonymous SNV NM_000236:c.C1068A:p.F356L
66257408-66257408 rs333550 exonic nonsynonymousSNVNM_032445:c.A950G:p.H317R
66411441-66411441 rs16949528 exonic nonsynonymous SNV NM_032445:c.G284A:p.S95N
52689631-52689631 rs1724577 exonic nonsynonymous SNV NM_000259:c.A1086C:p.E362D
52643564-52643564 rs1058219exonic nonsynonymousSNVNM_000259:c.C3736T:p.R1246C
101853368-101853368 rs56799341 C T exonic unknown UNKNOWN
101910550-101910550 rs20543 G A exonic unknown UNKNOWN
101924546-101924546 rs1135911 C T exonic unknown UNKNOWN
60907183-60907183 . exonic - T
60786149-60786150 rs139666470 UTR3 CA -
33954652-33954652 rs4780144 exonic nonsynonymousSNVNM_001036:c.C4921T:p.R1641C
34016274-34016274 rs6495228 exonic nonsynonymousSNVNM_001036:c.G6809A:p.G2270E
34048530-34048530 exonic nonsynonymous SNV NM_001036:c.A8539G:p.T2847A
34158266-34158266 rs1044129 A G UTR3
33905410-33905410 rs2229116 exonic nonsynonymous SNV NM_001036:c.A2191G:p.I731V 50474766-50474766 rs1648348 exonic nonsynonymousSNV NM_001159629:c.A142C:p.K48Q 92706785-92706785 rs149702942 UTR3 T -
92647645-92647645 rs1517618 exonic nonsynonymousSNVNM_001145044:c.G882C:p.E294D
44943757-44943757 rs3759871 exonic nonsynonymousSNV NM_001160227:c.T1388C:p.F463S
44943757-44943757 rs3759871exonic nonsynonymousSNV NM_001160227:c.T1388C:p.F463S
44943797-44943797 rs3759873 exonic nonsynonymousSNV NM_001160227:c.A1348G:p.I450V
72074590-72074590 rs35056281 UTR3 - G
81624768-81624768rs4417518 exonic nonsynonymousSNVNM_001080532:c.G3295A:p.D1099N
81625385-81625385 rs11636318exonic nonsynonymousSNVNM_001080532:c.G2678A:p.C893Y
81625028-81625028 rs8031046 exonicnonsynonymousSNV NM_001080532:c.G3035A:p.R1012K 72074590-72074590 rs35056281 UTR3 - G
50878630-50878630 rs8042919 exonic nonsynonymousSNVNM_017672:c.C4445T:p.T1482I
54920610-54920610 rs140677327 UTR3 - AAGTA
54306925-54306925 rs12437941exonic nonsynonymousSNVNM_001080534:c.G1825A:p.G609S
54307925-54307925 rs17731958exonic nonsynonymousSNVNM_001080534:c.C2825T:p.S942L
76551852-76551852 rs12913096 G→ A ncRNA_exonic
no. 16 karyomit(e) of chromosome 16()
81744145-81744145 UTR3 A -
81745224-81745224 rs11307650 UTR3 A -
81744139 -81744141 UTR3 AAG -
76532583-76532583 rs12933808exonic nonsynonymous SNV NM_138994:c.A2138G:p.Q713R
76501267-76501267 rs117057578xonic nonsynonymous SNV NM_138994:c.T1283A:p.F428Y
70972595-70972595 rs2502726 exonicnonsynonymousSNV NM_001270974:c.A6917G:p.E2306G
70917846-70917846 exonic nonsynonymous SNV NM_001270974:c.T9956C:p.L3319S
71015329-71015329 rs78763837exonic nonsynonymousSNVNM_001270974:c.C4475A:p.P1492H
53639438-53639438rs3213758 exonicnonsynonymousSNV NM_001127897:c.G3550A:p.D1184N
53671754-53671754 rs2111119 exonic nonsynonymousSNVNM_001127897:c.G2971A:p.G991S
81744145-81744145 UTR3 A -
81745224-81745224 rs11307650 UTR3 A -
81744139-81744141 . UTR3 AAG -
78312527-78312527 rs77067228exonic nonsynonymous SNV NM_130791:c.A544G:p.K182E
no. 17 karyomit(e) of chromosome 17()
78064015-78064015 rs4889953 exonic nonsynonymous SNV NM_001243342:c.G2910C:p.K970N
78064064-78064064 rs7207166 exonic nonsynonymous SNV NM_001243342:c.G2959A:p.G987R
53470613-53470613 rs139467808 UTR3 A -
64298959-64298959 rs3833857 UTR5 - G
64783081-64783081 rs6504459 exonic nonsynonymous SNV NM_002737:c.G1702A:p.V568I
78298938-78298938rs6565674exonic nonsynonymous SNV NM_001256071:c.A3133G:p.N1045D
78302157-78302157rs8082521exonic nonsynonymous SNV NM_001256071:c.C3397A:p.Q1133K
78305871-78305871rs10782008exonicnonsynonymousSNV NM_001256071:c.G3583A:p.V1195M
78306102-78306102rs9913636exonic nonsynonymous SNV NM_001256071:c.G3814C:p.E1272Q
78306280-78306280rs8074015exonic nonsynonymousSNV NM_001256071:c.A3992G:p.D1331G
78319136-78319136rs9674961exonic nonsynonymous SNV NM_001256071:c.G7001A:p.S2334N
8262161-78262161rs17857135exonic;nonsynonymous SNV NM_001256071:c.T809C:p.M270T
78293189-78293189rs55996424exonic nonsynonymous SNV NM_020954:c.A3101T:p.K1034M
70943990-70943990 rs2466517 exonic nonsynonymous SNV NM_001159770:c.A331G:p.T111A
70645032-70645032rs61736066exonicnonsynonymous SNV NM_001159770:c.C860T:p.A287V
no. 18 karyomit(e) of chromosome 18()
56149099-56149099 rs7240666 exonic nonsynonymousSNV NM_052947:c.A6469G:p.I2157V
56202768-56202768 rs3809983 exonic nonsynonymousSNVNM_052947:c.G4651T:p.A1551S
56203074-56203074 rs3809982exonic nonsynonymousSNVNM_052947:c.C4345T:p.P1449S
56203898-56203898 rs3809977 exonic nonsynonymousSNVNM_052947:c.A3521C:p.H1174P
56204250-56204250 rs3809976 exonic nonsynonymousSNVNM_052947:c.T3169G:p.L1057V
56204671-56204671 rs4940404 exonic nonsynonymous SNV NM_052947:c.T2748A:p.N916K
56204747-56204747 rs3826593 exonic nonsynonymous SNV NM_052947:c.C2672T:p.T891I
56204932-56204932 rs3809973exonic nonsynonymous SNV NM_052947:c.A2487C:p.K829N
56204945-56204945 rs3809972exonic nonsynonymous SNV NM_052947:c.G2474C:p.R825T
56204991-56204991 rs3809970 exonic nonsynonymous SNV NM_052947:c.G2428A:p.G810S
56205262-56205262 rs12103986exonic nonsynonymous SNV NM_052947:c.T2157G:p.H719Q
56247600-56247600 rs9944810 exonic nonsynonymous SNV NM_052947:c.G408T:p.R136S
56279025-56279025 rs6566987exonic nonsynonymous SNV NM_052947:c.A5C:p.K2T
56204489-56204489 rs3809975 exonic nonsynonymous SNV NM_052947:c.G2930C:p.S977T
31320229-31320229 rs2282632exonic nonsynonymous SNV NM_030632:c.A2861G:p.N954S
31324934-31324934 rs7232237exonic nonsynonymousSNVNM_030632:c.A5122G:p.M1708V
66504459-66504459 rs572020exonic nonsynonymous SNV NM_024781:c.A459T:p.K153N
66513615-66513615 rs2187094exonic nonsynonymous SNV NM_024781:c.A893G:p.K298R
67531642-67531642 rs763361exonic nonsynonymous SNV NM_006566:c.A919G:p.S307G
25531126-25531126 rs150635967 UTR3 T -
25531587-25531587 rs141192571 UTR3 A -
25531126 -25531126 rs150635967 UTR3 T -
25531587-25531587 rs141192571 UTR3 A -
49867224-49867224 rs9951523 exonic nonsynonymous SNV NM_005215:c.T67C:p.F23L
50432602-50432602 rs2229080 exonic nonsynonymous SNV NM_005215:c.C601G:p.R201G
67515256-67515259 rs10581301 UTR3 CACA -
5416160-5416160 rs8082898exonic nonsynonymous SNV NM_012307:c.A1724G:p.Y575C 5956238-5956238 rs3737353 exonic nonsynonymous SNV NM_173464:c.G1853A:p.G618D 6980523-6980523 rs607230 exonic nonsynonymousSNVNM_005559:c.A6004G:p.K2002E
6986227-6986227 rs12607841 exonic nonsynonymousSNVNM_005559:c.C5288T:p.A1763V
33848663-33848663 rs111317566 UTR3 - TACAT
33779855-33779855 rs623053 exonic nonsynonymous SNV NM_017947:c.C509T:p.T170I
33779896-33779896rs540967exonicnonsynonymous SNVNM_017947:c.A550G:p.S184G
33780020-33780020 rs623558 exonic nonsynonymous SNV NM_017947:c.A674G:p.H225R
33785093-33785093 rs678560 exonic nonsynonymous SNV NM_017947:c.G1072A:p.V358M
33831189-33831189 rs594445 exonic nonsynonymous SNV NM_017947:c.C2107A:p.H703N 47563299-47563299 rs1815930 exonic nonsynonymousSNVNM_001080467:c.A376G:p.T126A
47383243-47383243 rs1942418 exonicnonsynonymousSNV NM_001080467:c.G3962A:p.G1321E
70414715-70414715 rs144409738 UTR3 C -
70417396-70417396 rs922999 exonic nonsynonymousSNVNM_001201465:c.G1442A:p.S481N
29710880-29710880 rs59015789 UTR3 - AG
67718688-67718688 rs4891392exonic nonsynonymousSNVNM_173630:c.T5282C:p.F1761S
67871343-67871343 rs3911730 exonic nonsynonymous SNV NM_173630:c.T376G:p.S126A
2707619-2707619 rs2276092 exonic nonsynonymous SNV NM_015295:c.G2122A:p.V708I
2724930-2724930 rs633422 exonic nonsynonymous SNV NM_015295:c.A2637T:p.K879N
2763697-2763697 rs483547 exonic synonymousSNV NM_015295:c.C4629T:p.G1543G
66382200-66382200 rs117138050 exonic nonsynonymous SNV NM_019022:c.T19C:p.W7R
no. 19 karyomit(e) of chromosome 19()
33098632-33098632 rs2302970 exonic nonsynonymous SNV NM_032139:c.C2282G:p.P761R
33110204-33110204 rs2287669 exonic nonsynonymous SNV NM_032139:c.A1969G:p.S657G
13409472-13409472rs16023 exonic nonsynonymous SNV NM_001127221:c.A2978T:p.E993V
13409696-13409696 rs16022 exonic nonsynonymous SNV NM_001127221:c.G2754C:p.E918D
48714480-48714480 UTR3 A -
48737706-48737706 rs2043211 exonic nonsynonymous SNV NM_001184900:c.T304A:p.F102I
35719020-35719020 rs541169 exonic stopgain SNV NM_152481:c.G564A:p.W188X
35719106-35719106 rs565791 exonic nonsynonymous SNV NM_152481:c.T478C:p.C160R
55263898-55263898 rs1049267 exonic nonsynonymous SNV NM_015868:c.G953A:p.R318H
55494157-55494157 rs4306647 exonic nonsynonymous SNV NM_001174082:c.G1025A:p.R342K
38698065-38698065 rs34359575 UTR3 - AT
38572597-38572597 exonic nonsynonymous SNV NM_015073:c.C392T:p.A131V
38572932-38572932 exonic nonsynonymous SNV NM_015073:c.C727T:p.R243W
38573149-38573149 rs10405667exonic nonsynonymous SNV NM_015073:c.G944C:p.G315A
38610504-38610504 rs59185302 exonic synonymous SNV NM_015073:c.G2850A:p.E950E
10475652-10475652 rs2304256 exonic nonsynonymous SNV NM_003331:c.G1084T:p.V362F
10475652-10475652 rs2304256 exonic nonsynonymous SNV NM_003331:c.G1084T:p.V362F
4960949-4960949 rs146145010 UTR3 T -
17746947-17746947rs4239634exonic nonsynonymous SNV NM_001080421:c.T3101C:p.L1034P
58058536-58058536rs1548476exonic nonsynonymous SNV NM_001039654:c.T953C:p.I318T
53056953-53056953rs329965exonic nonsynonymous SNV NM_001039886:c.G784A:p.D262N
53056465-53056465rs117753855exonicnonsynonymous SNV NM_001039886:c.G296A:p.G99E
23542290-23542290rs78089801exonic nonsynonymous SNV NM_003430:c.T3491C:p.L1164P
23543095- 23543095 rs296093 exonic nonsynonymous SNV NM_003430:c.A2686G:p.T896A
23545447-23545447 rs296091 exonic nonsynonymous SNV NM_003430:c.T334C:p.Y112H
23542291-23542291rs56958500exonic nonsynonymous SNV NM_003430:c.C3490G:p.L1164V
23544165-23544165 exonic nonsynonymous SNV NM_003430:c.T1616C:p.I539T
no. 20 karyomit(e) of chromosome 20()
57036571-57036571 rs16981999exonic nonsynonymous SNV NM_153360:c.C781T:p.R261C
57042665 -57042665 rs7265854 exonic nonsynonymous SNV NM_153360:c.T238C:p.Y80H
57045765- 57045765 rs3946003 exonic nonsynonymous SNV NM_153360:c.T88C:p.C30R
17705677-17705677 rs4814640 exonic nonsynonymous SNV NM_001014977:c.A7G:p.N3D
17716416-17716416 rs1053993 exonic nonsynonymous SNV NM_001014977:c.C233G:p.T78S
17477592-17477592 rs6080719 exonic nonsynonymousSNV NM_001161705:c.G658A:p.G220S
55744002-55744002 rs142478448 UTR3 G -
20144772-20144772 rs6081901 exonic nonsynonymous SNV
60503350-60503350rs6142884 exonicnonsynonymous SNV NM_001252338:c.A1763G:p.K588R
34147170-34147172 ncRNA_exonic TCC -
34164422-34164422 rs1557202 T→C ncRNA_exonic
34170035-34170035 rs6060486 C→G ncRNA_exonic
34170316-34170316 rs6060487 C→A ncRNA_exonic
34173046-34173046 rs1536147 C→T ncRNA_exonic
34173178-34173178 rs6060488 A→G ncRNA_exonic
34147998-34147998 rs224424 A→G ncRNA_exonic
34152782-34152782 rs2277862 C→T ncRNA_exonic
42747247-42747247 rs3810510 exonic nonsynonymous SNV NM_020433:c.G1186A:p.A396T
16359567-16359567rs6034464 exonic nonsynonymous SNV NM_001199865:c.T3080C:p.M1027T
15967719 -15967719 rs62194199 exonic nonsynonymous SNV NM_001033087:c.T364C:p.S122P
46282984-46282984 rs71798379 UTR3 - T
50092193-50092193rs12479626 exonic nonsynonymousSNV NM_001136021:c.A1277G:p.H426R
40706398 40706398 rs5841443 UTR3 - GA
40702264-40702264 rs3833311 UTR3 - GCAAA
19951534-19951534 rs3803981 exonic nonsynonymous SNV NM_018993:c.T589A:p.S197T
1997070519970705 rs2076584 exonic synonymous SNV NM_018993:c.C1818T:p.H606H
3675333-3675333 rs3746638 exonic nonsynonymous SNV NM_023068:c.C2921T:p.A974V
3675498-3675498 rs709012 exonic nonsynonymous SNV NM_023068:c.A2756C:p.H919P
3684729-3684729 rs625372 exonic nonsynonymous SNV NM_023068:c.A716G:p.K239R
3686436-3686436 rs6037651 exonic nonsynonymous SNV NM_023068:c.G661A:p.V221M
3682242-3682242 rs45472900 exonic synonymous SNV NM_023068:c.G1275A:p.A425A
19261623-19261623 rs1569767 exonic nonsynonymous SNV NM_020689:c.G163A:p.V55I
19565693-19565693 rs3790267 exonic nonsynonymous SNV NM_020689:c.G502A:p.V168I
13053018-13053018 rs243887 exonic nonsynonymous SNV NM_018327:c.T418G:p.L140V
60736519-60736519 rs114151707 exonic nonsynonymous SNV NM_198935:c.C259T:p.P87S
2082732-2082732 rs6112857 exonic nonsynonymous SNV NM_080836:c.C205G:p.R69G 1221
no. 21 karyomit(e) of chromosome 21()
30717617-30717617 rs149614114 UTR3 T -
41384892-41384892 . UTR3 - A
42720579-42720579 rs111988437　exonic nonsynonymousSNVNM_206964:c.G402A:p.M134I
42717662-42717662 rs417708 exonic;splicing synonymous SNV NM_206964:c.T252C:p.G84G 31312175-31312175 rs75016300 G→A　 UTR5
32491788-32491788 rs113766273 UTR3 - A
32492129-32492129 rs112298059 UTR3 - A
32638549-32638549 rs2070417 exonic nonsynonymous SNV NM_003253:c.G740T:p.G247V
32638550-32638550 rs2070418 exonic nonsynonymous SNV NM_003253:c.G739A:p.G247R
no. 22 karyomit(e) of chromosome 22()
18211020-18211020 rs61374862 UTR3 - A
36957003-36957003 rs145195052 UTR3 - A
3696022336960223 rs144793211 UTR3 - T
46929692-46929692 rs4823561 exonicnonsynonymous SNV NM_014246:c.T3376C:p.C1126R
46931077-46931077 rs4823850 exonic nonsynonymous SNV NM_014246:c.C1991G:p.S664W
20488870-20488870 rs299671 G→A 　ncRNA_exonic
20496692-20496692 rs2722104 A→G 　ncRNA_exonic
20496622-20496622 rs2601530 A→T 　ncRNA_exonic
19183787-19183787 rs1633399 exonic nonsynonymous SNV NM_001835:c.T4181C:p.I1394T
19184095-19184095 rs1061325 exonic nonsynonymous SNV NM_001835:c.A3946G:p.M1316V
19195680-19195680 rs807547 exonic nonsynonymous SNV NM_001835:c.A3584G:p.N1195S
19197949-19197949 rs712952exonic nonsynonymous SNV NM_001835:c.C3136T:p.R1046C
19209603-19209603 rs112636081　exonic nonsynonymousSNVNM_001835:c.G2432A:p.R811Q
19223352-19223352 rs807459 exonic nonsynonymous SNV NM_001835:c.A836G:p.Y279C
17589209-17589209rs879577 exonic nonsynonymous SNV NM_014339:c.C1100T:p.A367V
29517463-29517463 rs61751700exonic nonsynonymous SNV NM_001039570:c.G471T:p.R157S
29533499-29533499 rs3561297exonic　synonymous SNV NM_001039570:c.G801A:p.A267A
18345029-18345029 UTR3 T -
18301600-18301600 rs7861632exonic nonsynonymous SNV NM_015241:c.C3827T:p.T1276I
36684354-36684354 rs2269529 exonic nonsynonymous SNV NM_002473:c.A4876G:p.I1626V
26159289 -26159289 rs133885 exonic nonsynonymous SNV NM_032608:c.G131A:p.G44E
26166900-26166900 rs385986exonic nonsynonymous SNV NM_032608:c.G1641C:p.W547C
26173661 -26173661 rs576117exonic nonsynonymous SNV NM_032608:c.T1981C:p.W661R
26219577 -26219577 exonic nonsynonymous SNV NM_032608:c.G2627A:p.R876Q
26239850-26239850 rs5761268 exonic nonsynonymous SNV NM_032608:c.C3357A:p.H1119Q
26164413 -26164413 rs1305843 exonic nonsynonymous SNV NM_032608:c.C530T:p.P177L
26422980 -26422980 rs2236005 exonic nonsynonymous SNV NM_032608:c.A7040G:p.Q2347R
5115977851159778rs139686326 exonic nonsynonymousSNVNM_033517:c.G3475A:p.A1159T
39777822-39777822 rs57910921 exonic - CAA
31010417-31010417 rs11735319exonic nonsynonymous SNV NM_000355:c.G509A:p.R170Q
31013374-31013374 rs117458738exonic nonsynonymous SNV NM_000355:c.C998T:p.T333M
31011610-31011610 rs1801198exonic nonsynonymous SNV NM_000355:c.G776C:p.R259P
40731482 40731482 rs60000368 UTR3 A -
chromosome X(X karyomit(e))
15706830-15706830 rs4060 C→A ncRNA_exonic
31196550-31196550 rs11333372 UTR3 T -
31139455-31139455 UTR3 - TCTT
31496350-31496350 rs1800280exonic nonsynonymous SNV NM_004014:c.G623A:p.R208Q
32380996-32380996 rs1801187exonic nonsynonymous SNV NM_004011:c.G1211A:p.R404H
31893307-31893307 rs1800275 T→G splicing
31480827-31480827 rs9531945 exonic nonsynonymous SNV NM_032849:c.A175G:p.R59G
31480371-31480371 rs11617899 A→G ncRNA_UTR5
31480827-31480827 rs9531945 exonic nonsynonymous SNV NM_032849:c.A175G:p.R59G
31480395-31480395 rs59030069 C→T ncRNA_UTR5
137793424-137793424 rs151118269 UTR5 C -
148564053-148564053 rs141616671 UTR3 A -
135310785-135310785rs2273221exonicnonsynonymousSNV NM_001173517:c.A1778G:p.Q593R
135313034135313034rs1055497exonicnonsynonymous SNV NM_001173517:c.A1400C:p.E467A
12907522-12907522 UTR3 - A
12904565-12904565 exonic nonsynonymous SNV NM_016562:c.T938C:p.I313T
10109658-10109658 rs36042905 UTR3 - A

Claims (3)

1. the schizophrenia Disease-causing gene, is characterized in that as shown in sequence 1-1280 in sequence table.
2. by the protein of the genes encoding of the arbitrary sequence table in claim 1.
3. the gene of the arbitrary sequence table in claim 1 is as the target position of detection probes or primer.
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CN107475351A (en) * 2016-06-08 2017-12-15 戴勇 The screening technique of the high contribution Disease-causing gene of rheumatoid arthritis
CN108823303A (en) * 2018-07-05 2018-11-16 广州海思医疗科技有限公司 A kind of detection kit and its purposes for assessing schizophrenia genetic risk
CN109680065A (en) * 2019-01-25 2019-04-26 济南市第四人民医院 One kind SNP marker relevant to taxane chemotherapy medicine bone marrow suppression and its application

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* Cited by examiner, † Cited by third party
Title
DBSNP: "rs4630153，", 《NCBI》 *
GENBANK: "NM_013339", 《NCBI》 *
STEPHAN RIPKE ET.AL.，: "Genome-wide association analysis identifies 13 new risk loci for schizophrenia", 《NAT GENET.》 *
张凤国 等: "山东省981例精神分裂症患者全基因组关联分析研究", 《精神医学杂志》 *

Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN107475351A (en) * 2016-06-08 2017-12-15 戴勇 The screening technique of the high contribution Disease-causing gene of rheumatoid arthritis
CN108823303A (en) * 2018-07-05 2018-11-16 广州海思医疗科技有限公司 A kind of detection kit and its purposes for assessing schizophrenia genetic risk
CN109680065A (en) * 2019-01-25 2019-04-26 济南市第四人民医院 One kind SNP marker relevant to taxane chemotherapy medicine bone marrow suppression and its application

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