クリニカルエクソーム検査
クリニカル・エクソーム・シーケンスは、何千もの遺伝子のコード領域とスプライスジャンクションを調べ、患者にとって臨床的に妥当な関連性のあるバリアントのみを報告するよう設計された、患者中心の表現型主導型解析です。すべてのClinical Exomeのオーダーには家族歴と臨床情報が必要です。
提供された臨床情報と一致しない偶発的所見や二次的所見は、日常的には報告されません。偶発的所見を含めることを希望する場合は、署名入りのInformed Consent for Genetic Testingフォームを提出する。ACMGが推奨する59の遺伝子において同定された病原性または病原性の可能性が高い変異体のみが、付随所見として報告されます。この解析は次世代シーケンシング（NGS）により行われ、臨床的意義が濃厚な核内コード遺伝子のコード領域およびスプライシングジャンクションを調べるように設計されている。提供された臨床情報と一致しない遺伝子に生じた変異は、日常的には報告されない。症例の特異性により、この解析は選択された遺伝子のプロモーター領域または他の非コード領域のサンガー配列決定を含む場合と含まない場合がある。同様に、この解析には、リピートプライム PCR（rpPCR）及びアンプリコン長解析による、限定された遺伝子のリピート拡張の検査が含まれる場合と含まれない場合がある。この解析にはメチル化研究やミトコンドリアコード遺伝子の評価は含まれない。すべての Clinical Exome オーダーには、表現型的に重要な遺伝子の Del/Dup 解析が含まれる。Del/Dup解析は、2つ以上の連続したエクソンの欠失または重複を同定するように設計されている。シングルエクソンの欠失または重複は、このアッセイでは日常的に検出されないが、時折同定されることがある。欠失および重複はエクソンレベルで報告される。ブレークポイントの位置は解析されません。シークエンシングにより診断または診断の可能性が特定された場合、Del/Dup解析は実施されない。
*常染色体優性遺伝、X連鎖優性遺伝、またはX連鎖劣性遺伝（遺伝学的に男性サンプルにおいて）を有する遺伝子において、単一ヘテロ接合性の病原性または病原性の可能性が高いバリアントが同定された場合、結果は診断の可能性が高いとみなされる。常染色体劣性遺伝またはX連鎖劣性遺伝の遺伝子において、2つの病原性または病原性の可能性が高い変異体（単一変異体に対するホモ接合または2つの変異体に対する複合ヘテロ接合を含む）が同定された場合も、診断的／可能性が高いとみなされます。
クリニカルエクソーム検査対象遺伝子
A2M, A2ML1, A4GALT, A4GNT, AAAS, AACS, AADAC, AADACL2, AAGAB, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCA12, ABCA13, ABCA2, ABCA3, ABCA4, ABCA5, ABCB1, ABCB11, ABCB4, ABCB6, ABCB7, ABCB8, ABCC1, ABCC10, ABCC11, ABCC12, ABCC2, ABCC3, ABCC4, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ABHD16A, ABHD5, ABI2, ABI3, ABI3BP, ABL1, ABL2, ABR, ABRAXAS1, ACAA1, ACACA, ACACB, ACAD10, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACBD5, ACBD6, ACCS, ACD, ACE, ACE2, ACER3, ACHE, ACKR1, ACKR3, ACLY, ACO2, ACOT7, ACOX1, ACOX2, ACP1, ACP2, ACP4, ACP5, ACR, ACSF3, ACSL4, ACSL5, ACSL6, ACSM3, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACTL6A, ACTL6B, ACTL7A, ACTL9, ACTN1, ACTN2, ACTN4, ACTRT1, ACTRT2, ACVR1, ACVR1B, ACVR1C, ACVR2A, ACVR2B, ACVRL1, ACY1, ADA, ADA2, ADAD2, ADAM10, ADAM12, ADAM17, ADAM19, ADAM22, ADAM23, ADAM33, ADAM7, ADAM9, ADAMTS1, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS19, ADAMTS2, ADAMTS3, ADAMTS6, ADAMTS9, ADAMTSL2, ADAMTSL3, ADAMTSL4, ADAR, ADARB1, ADAT3, ADCY1, ADCY10, ADCY3, ADCY5, ADCY6, ADCY9, ADD1, ADD2, ADD3, ADGRE2, ADGRG1, ADGRG2, ADGRG6, ADGRV1, ADH4, ADH7, ADIPOQ, ADIPOR1, ADIPOR2, ADK, ADM, ADORA2A, ADPRHL2, ADRA2A, ADRA2B, ADRA2C, ADRB1, ADRB2, ADRB3, ADSL, ADSSL1, ADTRP, AEBP1, AFF2, AFF3, AFF4, AFG3L2, AFP, AFTPH, AGA, AGAP1, AGAP2, AGBL1, AGBL3, AGBL5, AGFG1, AGGF1, AGK, AGL, AGMAT, AGMO, AGO1, AGPAT2, AGPAT5, AGPS, AGR2, AGRN, AGRP, AGT, AGTPBP1, AGTR1, AGTR2, AGTRAP, AGXT, AGXT2, AHCY, AHDC1, AHI1, AHR, AHSG, AHSP, AICDA, AIFM1, AIM2, AIMP1, AIMP2, AIP, AIPL1, AIRE, AJAP1, AK1, AK2, AK3, AK7, AK8, AKAP10, AKAP4, AKAP6, AKAP9, AKNA, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1D1, AKR1E2, AKR7A2, AKT1, AKT2, AKT3, ALAD, ALAS2, ALB, ALDH16A1, ALDH18A1, ALDH1A1, ALDH1A2, ALDH1A3, ALDH1B1, ALDH1L2, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG1L2, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ALK, ALKAL1, ALKAL2, ALKBH8, ALMS1, ALOX12, ALOX12B, ALOX5, ALOX5AP, ALOXE3, ALPI, ALPK1, ALPK3, ALPL, ALS2, ALS2CL, ALS2CR12, ALX1, ALX3, ALX4, AMACR, AMBN, AMBRA1, AMELX, AMELY, AMER1, AMH, AMHR2, AMMECR1, AMN, AMOTL1, AMPD1, AMPD2, AMPD3, AMT, AMTN, ANG, ANGPT2, ANGPTL3, ANGPTL4, ANGPTL5, ANGPTL6, ANGPTL7, ANK1, ANK2, ANK3, ANKFY1, ANKH, ANKK1, ANKLE2, ANKRD1, ANKRD11, ANKRD17, ANKRD26, ANKRD42, ANKRD55, ANKS1A, ANKS6, ANKZF1, ANLN, ANO1, ANO10, ANO3, ANO5, ANO6, ANO7, ANOS1, ANPEP, ANTXR2, ANXA1, ANXA5, AOX1, AP1B1, AP1G1, AP1S1, AP1S2, AP1S3, AP2A2, AP2M1, AP2S1, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APAF1, APBA2, APBB2, APC, APC2, APCDD1, APCS, APEX1, APOA1, APOA2, APOA4, APOA5, APOB, APOBEC1, APOBEC3H, APOC2, APOC3, APOC4, APOD, APOE, APOH, APOL1, APOL2, APOL3, APOL4, APOPT1, APP, APPL1, APRT, APTX, AQP11, AQP2, AQP3, AQP4, AQP5, AR, ARAP3, ARCN1, ARF1, ARFGEF1, ARFGEF2, ARG1, ARHGAP24, ARHGAP26, ARHGAP29, ARHGAP31, ARHGAP32, ARHGAP35, ARHGAP42, ARHGAP45, ARHGAP5, ARHGAP6, ARHGAP9, ARHGDIA, ARHGEF1, ARHGEF10, ARHGEF10L, ARHGEF12, ARHGEF15, ARHGEF16, ARHGEF18, ARHGEF19, ARHGEF2, ARHGEF28, ARHGEF4, ARHGEF6, ARHGEF7, ARHGEF9, ARID1A, ARID1B, ARID2, ARID4A, ARID4B, ARIH1, ARL13B, ARL2, ARL2BP, ARL3, ARL4D, ARL6, ARL6IP1, ARMC2, ARMC4, ARMC5, ARMC9, ARMS2, ARNT2, ARPC1B, ARR3, ARRDC1, ARRDC4, ARSA, ARSB, ARSE, ARSG, ARSI, ART4, ARTN, ARV1, ARX, AS3MT, ASAH1, ASAP2, ASB10, ASB15, ASCC1, ASCC3, ASCL1, ASH1L, ASIC2, ASIC3, ASIP, ASL, ASMT, ASMTL, ASNS, ASNSD1, ASPA, ASPH, ASPM, ASPN, ASPRV1, ASPSCR1, ASRGL1, ASS1, ASTL, ASTN1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATAD3B, ATAD3C, ATAT1, ATCAY, ATF3, ATF6, ATG16L1, ATG4A, ATG5, ATG7, ATIC, ATL1, ATL3, ATM, ATN1, ATOH1, ATOH7, ATP10A, ATP10B, ATP10D, ATP11C, ATP13A2, ATP13A3, ATP13A4, ATP1A1, ATP1A2, ATP1A3, ATP1A4, ATP1B1, ATP23, ATP2A1, ATP2A2, ATP2A3, ATP2B2, ATP2B3, ATP2B4, ATP2C1, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1E, ATP5MD, ATP5MF, ATP5PD, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP6V1C2, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF1, ATPAF2, ATR, ATRAID, ATRIP, ATRNL1, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN3L, ATXN7, AUH, AURKAIP1, AURKC, AUTS2, AVIL, AVP, AVPR1A, AVPR2, AXIN1, AXIN2, AXL, AZGP1, AZIN2, B2M, B3GALNT1, B3GALNT2, B3GALT1, B3GALT2, B3GALT5, B3GALT6, B3GAT1, B3GAT2, B3GAT3, B3GLCT, B3GNT2, B3GNT3, B3GNT4, B3GNT5, B3GNT6, B3GNT7, B3GNT8, B4GALNT1, B4GALNT2, B4GALNT3, B4GALNT4, B4GALT1, B4GALT2, B4GALT3, B4GALT4, B4GALT5, B4GALT6, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BACH2, BAG3, BAG5, BANK1, BAP1, BARD1, BARX2, BAX, BAZ1B, BAZ2B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAM, BCAP29, BCAR1, BCAS3, BCAT1, BCAT2, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCL11A, BCL11B, BCL2, BCL2L1, BCL2L15, BCL3, BCL6, BCL7A, BCL7B, BCL9, BCL9L, BCO1, BCOR, BCORL1, BCS1L, BDH1, BDNF, BDP1, BEAN1, BECN1, BEST1, BFSP1, BFSP2, BGN, BHLHA9, BHLHE41, BICC1, BICD2, BIN1, BIRC3, BIRC6, BLK, BLM, BLMH, BLNK, BLOC1S3, BLOC1S5, BLOC1S6, BLVRA, BMI1, BMP1, BMP15, BMP2, BMP4, BMP5, BMP6, BMP7, BMPER, BMPR1A, BMPR1B, BMPR2, BMS1, BNC1, BNC2, BOC, BOD1, BOLA3, BORCS8-MEF2B, BPGM, BPIFB6, BPNT1, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRD1, BRD2, BRD4, BRDT, BRF1, BRF2, BRIP1, BRPF1, BRSK2, BRWD1, BRWD3, BSCL2, BSG, BSN, BSND, BSPRY, BST2, BTBD9, BTD, BTG4, BTK, BUB1, BUB1B, BUB3, BUD23, BVES, C10orf105, C12orf4, C12orf57, C12orf65, C14orf39, C15orf41, C15orf62, C16orf58, C19orf12, C19orf70, C1D, C1GALT1, C1GALT1C1, C1QA, C1QB, C1QBP, C1QC, C1QTNF12, C1QTNF5, C1R, C1S, C21orf2, C21orf91, C2CD3, C2CD6, C2orf42, C2orf69, C2orf71, C3, C3AR1, C3orf58, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C7orf43, C8A, C8B, C8G, C8orf37, C9, C9orf3, C9orf72, C9orf84, CA1, CA12, CA2, CA4, CA5A, CA8, CABIN1, CABP2, CABP4, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4, CACNB2, CACNB4, CACNG2, CACNG3, CACNG4, CAD, CADM2, CADM3, CADPS2, CALCA, CALCR, CALCRL, CALHM1, CALM1, CALM2, CALM3, CALML6, CALR, CALR3, CAMK2A, CAMK2B, CAMK2G, CAMK4, CAMKMT, CAMSAP2, CAMTA1, CANT1, CAP2, CAPN1, CAPN10, CAPN12, CAPN15, CAPN3, CAPN5, CAPRIN1, CAPS, CAPZB, CARD10, CARD11, CARD14, CARD9, CARMIL2, CARS, CARS2, CARTPT, CASK, CASP10, CASP14, CASP2, CASP8, CASQ1, CASQ2, CASR, CASZ1, CAT, CATIP, CATSPER1, CATSPER2, CATSPER3, CATSPER4, CATSPERE, CAV1, CAV3, CAVIN1, CAVIN4, CBFB, CBL, CBLB, CBLC, CBLN2, CBR1, CBR3, CBS, CBSL, CBX2, CBX4, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC107, CCDC114, CCDC115, CCDC134, CCDC136, CCDC137, CCDC14, CCDC141, CCDC151, CCDC155, CCDC174, CCDC186, CCDC22, CCDC28B, CCDC32, CCDC39, CCDC40, CCDC47, CCDC50, CCDC62, CCDC65, CCDC66, CCDC78, CCDC8, CCDC88A, CCDC88C, CCDC91, CCIN, CCKAR, CCKBR, CCL11, CCL14, CCL2, CCL3, CCM2, CCNB3, CCND1, CCND2, CCNF, CCNH, CCNI, CCNK, CCNL2, CCNO, CCR2, CCR3, CCR5, CCR7, CCT2, CCT4, CCT7, CD109, CD151, CD164, CD19, CD200, CD207, CD209, CD244, CD247, CD27, CD28, CD2AP, CD320, CD36, CD38, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD44, CD48, CD5, CD59, CD70, CD74, CD79A, CD79B, CD80, CD81, CD83, CD86, CD8A, CD93, CD96, CD99L2, CDA, CDAN1, CDC14A, CDC20, CDC40, CDC42, CDC42BPB, CDC45, CDC5L, CDC6, CDC73, CDCA7, CDCA8, CDH1, CDH10, CDH11, CDH13, CDH15, CDH18, CDH2, CDH23, CDH3, CDH5, CDHR1, CDK10, CDK11B, CDK12, CDK13, CDK16, CDK19, CDK20, CDK4, CDK5, CDK5R1, CDK5RAP2, CDK6, CDK8, CDK9, CDKAL1, CDKL3, CDKL5, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CDON, CDT1, CDX1, CDX2, CEACAM16, CEACAM3, CEACAM6, CEBPA, CEBPE, CECR2, CEL, CELA2A, CELA2B, CELF2, CELF4, CELF6, CELSR1, CELSR2, CELSR3, CEMIP, CENPE, CENPF, CENPJ, CENPS, CENPT, CEP104, CEP112, CEP120, CEP135, CEP152, CEP164, CEP19, CEP250, CEP290, CEP41, CEP55, CEP57, CEP63, CEP78, CEP83, CEP85L, CEP89, CERKL, CERS1, CERS3, CERS6, CES1, CES2, CETP, CFAP221, CFAP298, CFAP300, CFAP43, CFAP44, CFAP45, CFAP46, CFAP47, CFAP52, CFAP53, CFAP57, CFAP58, CFAP65, CFAP69, CFAP70, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, CFL2, CFP, CFTR, CGNL1, CH25H, CHAF1B, CHAMP1, CHAT, CHCHD10, CHCHD2, CHD1, CHD1L, CHD2, CHD3, CHD4, CHD5, CHD6, CHD7, CHD8, CHDH, CHEK1, CHEK2, CHGA, CHI3L1, CHIC2, CHIT1, CHKB, CHL1, CHM, CHMP1A, CHMP2B, CHMP4A, CHMP4B, CHN1, CHORDC1, CHP1, CHPF, CHPF2, CHRD, CHRDL1, CHRM1, CHRM2, CHRM3, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA9, CHRNB1, CHRNB2, CHRNB3, CHRNB4, CHRND, CHRNE, CHRNG, CHST11, CHST14, CHST3, CHST5, CHST6, CHST7, CHST8, CHSY1, CHSY3, CHUK, CIB1, CIB2, CIDEC, CIITA, CILP, CIP2A, CISD2, CISH, CIT, CITED2, CIZ1, CKAP2L, CKB, CKM, CKMT2, CLASP1, CLCA4, CLCC1, CLCF1, CLCN1, CLCN2, CLCN3, CLCN4, CLCN5, CLCN6, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN10, CLDN11, CLDN14, CLDN16, CLDN19, CLDN2, CLDN5, CLDN9, CLDND1, CLEC1A, CLEC3A, CLEC3B, CLEC7A, CLIC2, CLIC5, CLIP1, CLIP2, CLMP, CLN3, CLN5, CLN6, CLN8, CLNS1A, CLOCK, CLP1, CLPB, CLPP, CLPS, CLPTM1, CLPX, CLRN1, CLRN2, CLSTN1, CLTC, CLTCL1, CLTRN, CLU, CLUAP1, CLYBL, CMIP, CMPK1, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNKSR1, CNKSR2, CNNM1, CNNM2, CNNM4, CNOT1, CNOT2, CNOT4, CNP, CNR1, CNR2, CNRIP1, CNTF, CNTN1, CNTN2, CNTN3, CNTN4, CNTN5, CNTN6, CNTNAP1, CNTNAP2, CNTNAP3, CNTNAP4, CNTNAP5, CNTROB, COA3, COA5, COA6, COA7, COASY, COCH, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL17A1, COL18A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A3BP, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COLGALT1, COLQ, COMMD1, COMP, COMT, COPA, COPB1, COPB2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORIN, CORO1A, CORT, COX10, COX14, COX15, COX16, COX20, COX4I1, COX4I2, COX5A, COX6A1, COX6A2, COX6B1, COX7A1, COX7A2, COX7B, COX8A, CP, CPA1, CPA6, CPAMD8, CPB2, CPD, CPE, CPEB4, CPLANE1, CPLX1, CPN1, CPOX, CPS1, CPSF1, CPT1A, CPT1B, CPT1C, CPT2, CPTP, CPXM2, CPZ, CR1, CR2, CRADD, CRAT, CRB1, CRB2, CRBN, CREB1, CREB3L1, CREB3L3, CREBBP, CRELD1, CRH, CRIM1, CRIPT, CRISP2, CRKL, CRLF1, CRNN, CROCC, CRP, CRTAP, CRTC1, CRX, CRY1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYBG2, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CRYL1, CRYM, CSDE1, CSF1, CSF1R, CSF2, CSF2RA, CSF2RB, CSF3R, CSGALNACT1, CSMD1, CSMD2, CSMD3, CSNK1D, CSNK1G1, CSNK1G3, CSNK2A1, CSNK2A2, CSNK2B, CSPP1, CSRP3, CST3, CST6, CSTA, CSTB, CSTF2T, CTBP1, CTC1, CTCF, CTDP1, CTF1, CTGF, CTH, CTHRC1, CTLA4, CTNNA1, CTNNA2, CTNNA3, CTNNB1, CTNNBIP1, CTNNBL1, CTNND2, CTNS, CTPS1, CTPS2, CTR9, CTRB1, CTRB2, CTRC, CTSA, CTSC, CTSD, CTSF, CTSG, CTSK, CTSL, CTTNBP2, CTU2, CUBN, CUL2, CUL3, CUL4B, CUL5, CUL7, CUX1, CUX2, CWC27, CWF19L1, CX3CR1, CXCL12, CXCL5, CXCR1, CXCR2, CXCR4, CXorf36, CXorf56, CYB561, CYB5A, CYB5R3, CYB5R4, CYBA, CYBB, CYBC1, CYBRD1, CYC1, CYCS, CYFIP1, CYFIP2, CYLC2, CYLD, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1A2, CYP1B1, CYP21A2, CYP24A1, CYP26B1, CYP26C1, CYP27A1, CYP27B1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, CYP2J2, CYP2R1, CYP2U1, CYP3A5, CYP4F22, CYP4V2, CYP51A1, CYP7A1, CYP7B1, CYR61, D2HGDH, DAAM2, DAB1, DACH1, DACH2, DACT1, DAD1, DAG1, DAGLA, DALRD3, DAO, DAPP1, DARS, DARS2, DAXX, DAZL, DBH, DBR1, DBT, DCAF17, DCAF8, DCC, DCDC2, DCHS1, DCHS2, DCK, DCLRE1B, DCLRE1C, DCN, DCPS, DCT, DCTD, DCTN1, DCTN2, DCTN4, DCX, DCXR, DDAH1, DDB1, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDRGK1, DDX11, DDX23, DDX25, DDX3X, DDX3Y, DDX41, DDX58, DDX59, DDX6, DEAF1, DECR1, DEF6, DEFB119, DEFB126, DEGS1, DEK, DENND1A, DENND3, DENND5A, DENR, DEPDC5, DEPTOR, DERA, DES, DESI2, DFFA, DFFB, DGCR2, DGKD, DGKE, DGKH, DGKQ, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHFR2, DHH, DHODH, DHPS, DHRS3, DHTKD1, DHX30, DHX32, DHX34, DHX37, DHX38, DHX40, DHX9, DIABLO, DIAPH1, DIAPH2, DIAPH3, DICER1, DIP2A, DIP2B, DIP2C, DIRC2, DIS3L2, DISC1, DISP1, DISP3, DKC1, DKK1, DKK3, DKK4, DLAT, DLC1, DLD, DLEC1, DLEU7, DLG1, DLG2, DLG3, DLG4, DLGAP1, DLGAP2, DLK1, DLL1, DLL3, DLL4, DLST, DLX3, DLX4, DLX5, DLX6, DMAC2, DMBT1, DMBX1, DMC1, DMD, DMGDH, DMP1, DMPK, DMRT1, DMTF1, DMXL1, DMXL2, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH10, DNAH11, DNAH17, DNAH2, DNAH5, DNAH6, DNAH7, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAJB2, DNAJB6, DNAJC11, DNAJC12, DNAJC13, DNAJC19, DNAJC21, DNAJC3, DNAJC30, DNAJC5, DNAJC6, DNAL1, DNAL4, DNASE1, DNASE1L2, DNASE1L3, DNASE2, DNHD1, DNM1, DNM1L, DNM2, DNMBP, DNMT1, DNMT3A, DNMT3B, DNMT3L, DOC2A, DOCK1, DOCK2, DOCK3, DOCK4, DOCK6, DOCK7, DOCK8, DOCK9, DOK1, DOK2, DOK7, DOLK, DOLPP1, DONSON, DOPEY1, DOT1L, DPAGT1, DPF2, DPH1, DPM1, DPM2, DPM3, DPP10, DPP4, DPP6, DPT, DPY19L2, DPYD, DPYS, DPYSL3, DPYSL5, DRAM2, DRAXIN, DRC1, DRD1, DRD2, DRD3, DRD4, DRD5, DSC2, DSC3, DSCAM, DSE, DSG1, DSG2, DSG3, DSG4, DSP, DSPP, DST, DSTYK, DTD1, DTHD1, DTNA, DTNBP1, DUOX1, DUOX2, DUOXA2, DUSP15, DUSP6, DVL1, DVL2, DVL3, DYM, DYNAP, DYNC1H1, DYNC1I2, DYNC2H1, DYNC2LI1, DYRK1A, DYRK1B, DYSF, DZIP1, DZIP1L, E2F1, E2F3, E2F4, E2F5, EARS2, EBAG9, EBF2, EBF3, EBP, ECE1, ECE2, ECEL1, ECHS1, ECI1, ECM1, ECM2, ECSIT, EDA, EDA2R, EDAR, EDARADD, EDC3, EDEM3, EDN1, EDN3, EDNRA, EDNRB, EDRF1, EED, EEF1A2, EEF2, EFCAB2, EFCAB5, EFCAB6, EFEMP1, EFEMP2, EFHC1, EFHC2, EFHD2, EFL1, EFNA1, EFNA4, EFNA5, EFNB1, EFNB2, EFR3A, EFTUD2, EGF, EGFL7, EGFR, EGLN1, EGLN2, EGR2, EHBP1, EHD2, EHHADH, EHMT1, EIF2AK1, EIF2AK2, EIF2AK3, EIF2AK4, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF3G, EIF4A3, EIF4ENIF1, EIF4G1, EIF4H, EIF5A, EIF5AL1, EIF6, ELAC2, ELANE, ELAVL3, ELF2, ELF4, ELK1, ELK3, ELMO2, ELMOD2, ELMOD3, ELN, ELOVL1, ELOVL4, ELOVL5, ELP1, ELP2, EMC1, EMC10, EMC4, EMD, EME1, EMG1, EMILIN1, EML1, EMP2, EMSY, EMX1, EMX2, EN1, EN2, ENAM, ENG, ENO3, ENPP1, ENTPD1, EOGT, EOMES, EP300, EP400, EPAS1, EPB41, EPB41L1, EPB42, EPC2, EPCAM, EPG5, EPHA2, EPHA3, EPHA4, EPHA5, EPHA7, EPHB1, EPHB2, EPHB3, EPHB4, EPHB6, EPHX1, EPHX2, EPM2A, EPN2, EPO, EPOR, EPPK1, EPRS, EPS8, EPS8L2, EPS8L3, EPX, ERAL1, ERAP1, ERAP2, ERBB2, ERBB3, ERBB4, ERBIN, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERG, ERGIC1, ERLIN1, ERLIN2, ERMAP, ERMARD, ERRFI1, ESAM, ESCO2, ESPN, ESR1, ESR2, ESRP1, ESRP2, ESRRB, ESS2, ETF1, ETFA, ETFB, ETFDH, ETHE1, ETV4, ETV6, EVC, EVC2, EVI5, EWSR1, EXO1, EXO5, EXOC2, EXOC3L2, EXOC4, EXOC6B, EXOC7, EXOC8, EXOSC1, EXOSC10, EXOSC2, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXPH5, EXT1, EXT2, EXTL1, EXTL2, EXTL3, EYA1, EYA4, EYS, EZH1, EZH2, F10, F11, F12, F13A1, F13B, F2, F2RL1, F3, F5, F7, F8, F9, FA2H, FAAH, FAAH2, FAAP100, FAAP20, FAAP24, FABP1, FABP2, FADD, FADS2, FAH, FAM111A, FAM111B, FAM120C, FAM126A, FAM136A, FAM149B1, FAM160B1, FAM161A, FAM189A1, FAM205A, FAM20A, FAM20B, FAM20C, FAM47B, FAM47C, FAM50A, FAM57B, FAM83G, FAM83H, FAM92A, FAM92B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FARSA, FARSB, FAS, FASLG, FASN, FASTKD2, FAT1, FAT2, FAT4, FATE1, FBF1, FBH1, FBLN1, FBLN5, FBN1, FBN2, FBP1, FBRS, FBRSL1, FBXL3, FBXL4, FBXL6, FBXO10, FBXO11, FBXO2, FBXO28, FBXO31, FBXO38, FBXO42, FBXO44, FBXO47, FBXO6, FBXO7, FBXW4, FBXW7, FCER1G, FCGR1A, FCGR2B, FCHO1, FCN1, FCN2, FCN3, FCRL6, FDFT1, FDPS, FDX2, FDXR, FECH, FEM1A, FEM1B, FERMT1, FERMT3, FEZF1, FEZF2, FFAR1, FFAR4, FGA, FGB, FGD1, FGD3, FGD4, FGF10, FGF12, FGF13, FGF14, FGF16, FGF17, FGF2, FGF23, FGF3, FGF5, FGF8, FGF9, FGFR1, FGFR1OP, FGFR2, FGFR3, FGFR4, FGFRL1, FGG, FH, FHIT, FHL1, FHL2, FHOD3, FIBP, FIG4, FIGLA, FITM2, FKBP10, FKBP14, FKBP5, FKBP8, FKRP, FKTN, FLAD1, FLCN, FLG, FLG2, FLI1, FLII, FLNA, FLNB, FLNC, FLRT3, FLT1, FLT3, FLT4, FLVCR1, FLVCR2, FMN1, FMN2, FMNL3, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FMR1, FN1, FN3K, FNBP1, FNBP4, FNIP1, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOS, FOXA1, FOXA2, FOXA3, FOXC1, FOXC2, FOXD3, FOXE1, FOXE3, FOXF1, FOXF2, FOXG1, FOXH1, FOXI1, FOXI3, FOXJ1, FOXK1, FOXL1, FOXL2, FOXM1, FOXN1, FOXO1, FOXO3, FOXP1, FOXP2, FOXP3, FOXP4, FOXRED1, FPGS, FPGT-TNNI3K, FPR1, FPR3, FRAS1, FREM1, FREM2, FREM3, FRK, FRMD4A, FRMD7, FRMPD4, FRRS1L, FRY, FRZB, FSCB, FSCN1, FSCN2, FSHB, FSHR, FSIP2, FST, FTCD, FTH1, FTHL17, FTL, FTO, FTSJ1, FUCA1, FUK, FUS, FUT1, FUT2, FUT3, FUT5, FUT6, FUT7, FUT8, FUZ, FXN, FXR1, FXYD2, FYB1, FYCO1, FZD2, FZD3, FZD4, FZD5, FZD6, FZD9, FZR1, G6PC, G6PC2, G6PC3, G6PD, GAA, GAB1, GAB3, GABBR1, GABBR2, GABRA1, GABRA2, GABRA4, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRG1, GABRG2, GABRR2, GAD1, GAD2, GADD45A, GAK, GAL, GAL3ST1, GAL3ST2, GAL3ST3, GAL3ST4, GALC, GALE, GALK1, GALM, GALNS, GALNT11, GALNT12, GALNT13, GALNT14, GALNT17, GALNT2, GALNT3, GALNT5, GALNT6, GALNT7, GALNT8, GALNT9, GALNTL6, GALT, GAMT, GAN, GANAB, GAP43, GAPVD1, GARS, GART, GAS1, GAS2L2, GAS8, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD1, GATAD2B, GATB, GATC, GATD3A, GATM, GBA, GBA2, GBE1, GBF1, GBGT1, GC, GCDH, GCGR, GCH1, GCK, GCKR, GCLC, GCLM, GCM2, GCNT1, GCNT2, GCSH, GDAP1, GDAP2, GDF1, GDF11, GDF2, GDF3, GDF5, GDF6, GDF9, GDI1, GDNF, GDPD1, GEMIN5, GEN1, GFAP, GFER, GFI1, GFI1B, GFM1, GFM2, GFPT1, GFRA1, GGCX, GGH, GGN, GGNBP2, GGPS1, GGT1, GHR, GHRH, GHRHR, GHRL, GHSR, GIF, GIGYF1, GIGYF2, GIMAP5, GIMAP6, GIMAP8, GINS1, GIP, GIPC1, GIPC3, GIPR, GIT1, GJA1, GJA3, GJA5, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GJC3, GK, GLA, GLB1, GLCCI1, GLDC, GLDN, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLO1, GLP1R, GLRA1, GLRA2, GLRB, GLRX5, GLS2, GLT8D1, GLUD1, GLUD2, GLUL, GLYCTK, GM2A, GMNN, GMPPA, GMPPB, GNA11, GNA14, GNAI1, GNAI3, GNAL, GNAO1, GNAQ, GNAS, GNAT1, GNAT2, GNB1, GNB1L, GNB2, GNB3, GNB4, GNE, GNMT, GNPAT, GNPDA1, GNPNAT1, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOLGA2, GOLGA3, GOLGA5, GON7, GOPC, GORAB, GOSR2, GOT1, GOT2, GP1BA, GP1BB, GP6, GP9, GPAA1, GPAM, GPATCH3, GPATCH8, GPBAR1, GPC3, GPC4, GPC6, GPD1, GPD1L, GPD2, GPHN, GPI, GPIHBP1, GPKOW, GPNMB, GPR1, GPR101, GPR12, GPR132, GPR139, GPR143, GPR153, GPR161, GPR179, GPR35, GPR37, GPR85, GPR88, GPRASP1, GPRASP2, GPRIN1, GPS1, GPSM2, GPT, GPT2, GRB10, GRB14, GREB1, GREM1, GREM2, GRHL1, GRHL2, GRHL3, GRHPR, GRIA1, GRIA2, GRIA3, GRIA4, GRID1, GRID2, GRID2IP, GRIK1, GRIK2, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIN3A, GRIP1, GRK1, GRK3, GRK4, GRM1, GRM6, GRM7, GRN, GRPR, GRXCR1, GRXCR2, GSC, GSDME, GSE1, GSN, GSPT2, GSR, GSS, GSTA3, GSTM3, GSTP1, GSTT1, GSTZ1, GSX2, GTF2E2, GTF2H3, GTF2H5, GTF3C3, GTPBP2, GTPBP3, GUCA1A, GUCA1B, GUCY1A1, GUCY2C, GUCY2D, GUCY2F, GUF1, GUSB, GYG1, GYG2, GYPC, GYS1, GYS2, GZF1, H3F3A, H3F3B, H6PD, HAAO, HABP2, HACD1, HACE1, HADH, HADHA, HADHB, HAGH, HAL, HAMP, HAND1, HAND2, HAO1, HAPLN1, HARS, HARS2, HAUS7, HAVCR2, HAX1, HBA1, HBA2, HBB, HBD, HBE1, HBM, HCCS, HCFC1, HCN1, HCN2, HCN3, HCN4, HCRT, HCRTR2, HDAC4, HDAC5, HDAC6, HDAC8, HDAC9, HDC, HDGFL2, HDLBP, HDX, HEATR5B, HECA, HECW2, HELLS, HEPACAM, HEPH, HEPHL1, HERC1, HES2, HES3, HES4, HES5, HES7, HESX1, HEXA, HEXB, HEY1, HEY2, HFE, HFM1, HGD, HGF, HGSNAT, HHAT, HIBCH, HIC1, HIC2, HIF1A, HIGD2A, HIKESHI, HINT1, HIP1, HIRA, HIST1H1E, HIST1H2AE, HIST1H4C, HIST1H4J, HIST3H3, HIVEP1, HIVEP2, HJV, HK1, HK2, HKDC1, HLCS, HLX, HMBS, HMCN1, HMGB3, HMGCL, HMGCR, HMGCS2, HMGXB3, HMMR, HMOX1, HMX1, HMX2, HNF1A, HNF1B, HNF4A, HNMT, HNRNPA0, HNRNPA1, HNRNPA2B1, HNRNPC, HNRNPD, HNRNPDL, HNRNPH1, HNRNPH2, HNRNPH3, HNRNPK, HNRNPR, HNRNPU, HOGA1, HOMER1, HOMER2, HOOK1, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA3, HOXA4, HOXB1, HOXB13, HOXB6, HOXB8, HOXC13, HOXD10, HOXD11, HOXD13, HOXD4, HP, HPCA, HPD, HPDL, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HRAS, HRG, HRNR, HS2ST1, HS3ST6, HS6ST1, HS6ST2, HSCB, HSD11B1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B1, HSD3B2, HSD3B7, HSF1, HSF2, HSF2BP, HSF4, HSPA9, HSPB1, HSPB3, HSPB6, HSPB7, HSPB8, HSPD1, HSPE1, HSPG2, HTR1A, HTR1B, HTR2A, HTR2B, HTR2C, HTR3A, HTR3B, HTR3C, HTR3E, HTR7, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYAL2, HYDIN, HYI, HYKK, HYLS1, HYOU1, IAPP, IARS, IARS2, IBA57, ICA1, ICAM1, ICAM4, ICK, ICMT, ICOS, ICOSLG, ID3, ID4, IDH1, IDH2, IDH3A, IDH3B, IDO1, IDS, IDUA, IER3IP1, IFIH1, IFITM1, IFITM2, IFITM3, IFITM5, IFNA1, IFNAR1, IFNAR2, IFNE, IFNG, IFNGR1, IFNGR2, IFRD1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IFT88, IGBP1, IGF1, IGF1R, IGF2, IGF2BP2, IGF2R, IGFALS, IGFBP7, IGHMBP2, IGLL1, IGSF1, IGSF10, IGSF3, IHH, IKBIP, IKBKB, IKBKG, IKZF1, IKZF3, IKZF5, IL10, IL10RA, IL10RB, IL11, IL11RA, IL12B, IL12RB1, IL12RB2, IL13, IL17F, IL17RA, IL17RC, IL17RD, IL18BP, IL18RAP, IL1B, IL1R1, IL1RAPL1, IL1RN, IL20RB, IL21R, IL22, IL23A, IL23R, IL2RA, IL2RB, IL2RG, IL3, IL31RA, IL36RN, IL37, IL4, IL4R, IL6, IL6R, IL6ST, IL7R, IL9R, ILDR1, ILF2, ILF3, ILK, IMMP2L, IMMT, IMPA1, IMPAD1, IMPDH1, IMPDH2, IMPG1, IMPG2, INAVA, INF2, ING1, INHA, INMT, INO80, INPP5B, INPP5E, INPP5F, INPP5K, INPPL1, INS, INSL6, INSR, INTS1, INTS11, INTS6, INTS8, INTU, INVS, IPMK, IPO13, IPO8, IQCB1, IQCE, IQGAP2, IQGAP3, IQSEC1, IQSEC2, IQSEC3, IRAK3, IRAK4, IREB2, IRF1, IRF2BP2, IRF2BPL, IRF3, IRF4, IRF5, IRF6, IRF8, IRF9, IRS1, IRS2, IRS4, IRX4, IRX5, ISCA1, ISCA2, ISCU, ISG15, ISL1, ISPD, ITCH, ITFG2, ITGA10, ITGA2, ITGA2B, ITGA3, ITGA6, ITGA7, ITGA8, ITGA9, ITGAM, ITGAV, ITGB2, ITGB3, ITGB4, ITGB6, ITIH2, ITIH4, ITIH6, ITK, ITM2B, ITPA, ITPKB, ITPKC, ITPR1, ITPR2, ITSN1, ITSN2, IVD, IVNS1ABP, IYD, IZUMO1, JAG1, JAG2, JAGN1, JAK1, JAK2, JAK3, JAM2, JAM3, JARID2, JCAD, JMJD1C, JPH1, JPH2, JPH3, JUN, JUNB, JUP, KALRN, KANK1, KANK2, KANK3, KANK4, KANSL1, KARS, KAT2A, KAT2B, KAT5, KAT6A, KAT6B, KAT8, KATNAL2, KATNB1, KAZN, KBTBD13, KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNAB1, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNG2, KCNH1, KCNH2, KCNH3, KCNIP4, KCNJ1, KCNJ10, KCNJ11, KCNJ12, KCNJ13, KCNJ16, KCNJ18, KCNJ2, KCNJ5, KCNJ6, KCNJ8, KCNK17, KCNK18, KCNK3, KCNK4, KCNK9, KCNMA1, KCNMB1, KCNMB4, KCNN2, KCNN3, KCNN4, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KCNQ5, KCNS1, KCNT1, KCNT2, KCNV1, KCNV2, KCTD1, KCTD11, KCTD13, KCTD17, KCTD3, KCTD7, KDELR2, KDF1, KDM1A, KDM3A, KDM3B, KDM4B, KDM5A, KDM5B, KDM5C, KDM5D, KDM6A, KDM6B, KDM7A, KDR, KDSR, KEL, KERA, KHDC3L, KHDRBS1, KHK, KIAA0100, KIAA0232, KIAA0319, KIAA0319L, KIAA0391, KIAA0556, KIAA0586, KIAA0753, KIAA0825, KIAA1109, KIAA1217, KIDINS220, KIF11, KIF12, KIF13B, KIF14, KIF15, KIF16B, KIF17, KIF19, KIF1A, KIF1B, KIF1BP, KIF1C, KIF20A, KIF21A, KIF21B, KIF22, KIF23, KIF26B, KIF2A, KIF3B, KIF4A, KIF5A, KIF5C, KIF7, KIR3DL1, KIRREL1, KIRREL3, KISS1, KISS1R, KIT, KITLG, KIZ, KL, KLC1, KLC2, KLC3, KLF1, KLF10, KLF11, KLF2, KLF6, KLF8, KLHDC10, KLHDC8B, KLHL1, KLHL10, KLHL15, KLHL17, KLHL21, KLHL24, KLHL3, KLHL4, KLHL40, KLHL41, KLHL7, KLHL9, KLK1, KLK12, KLK4, KLKB1, KLLN, KLRC4, KLRG1, KMT2A, KMT2B, KMT2D, KMT5B, KNG1, KNL1, KNSTRN, KPNA1, KPNA7, KPTN, KRAS, KREMEN1, KRIT1, KRR1, KRT1, KRT10, KRT12, KRT13, KRT14, KRT16, KRT17, KRT2, KRT25, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT85, KRT86, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KSR2, KY, KYNU, L1CAM, L2HGDH, L3MBTL1, LACC1, LAGE3, LAMA1, LAMA2, LAMA3, LAMA4, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE1, LARGE2, LARP7, LARS, LARS2, LAS1L, LAT, LAX1, LBR, LBX1, LCA5, LCAT, LCE2A, LCE3B, LCE3D, LCE3E, LCE5A, LCK, LCP1, LCP2, LCT, LDB1, LDB3, LDHA, LDHB, LDHD, LDLR, LDLRAP1, LECT2, LEF1, LEFTY1, LEFTY2, LEMD2, LEMD3, LEP, LEPR, LEPROT, LETM1, LFNG, LGALS13, LGALS2, LGI1, LGI4, LGR4, LGR5, LHB, LHCGR, LHFPL3, LHFPL5, LHX1, LHX3, LHX4, LHX8, LIAS, LIF, LIFR, LIG1, LIG3, LIG4, LIM2, LIMA1, LIMK1, LIMS2, LIN7B, LINGO1, LINS1, LIPA, LIPC, LIPG, LIPH, LIPI, LIPN, LIPT1, LIPT2, LITAF, LLGL1, LMAN1, LMAN2L, LMBR1, LMBRD1, LMBRD2, LMF1, LMNA, LMNB1, LMNB2, LMO1, LMO2, LMO4, LMOD1, LMOD3, LMTK3, LMX1A, LMX1B, LNP1, LNPK, LNX1, LONP1, LOR, LOX, LOXHD1, LOXL1, LOXL3, LPAR6, LPIN1, LPIN2, LPIN3, LPL, LPP, LRAT, LRBA, LRFN2, LRFN5, LRIF1, LRIG2, LRIG3, LRIT3, LRMDA, LRP1, LRP12, LRP2, LRP4, LRP5, LRP5L, LRP6, LRP8, LRPPRC, LRRC32, LRRC38, LRRC4, LRRC47, LRRC56, LRRC6, LRRC8A, LRRFIP2, LRRK1, LRRK2, LRRN1, LRRN3, LRRTM1, LRSAM1, LRTOMT, LSM11, LSR, LSS, LTBP1, LTBP2, LTBP3, LTBP4, LTBR, LTC4S, LTN1, LUM, LUZP1, LY96, LYL1, LYN, LYPD5, LYRM4, LYRM7, LYST, LYZ, LZIC, LZTFL1, LZTR1, LZTS1, M1AP, MAATS1, MAB21L1, MAB21L2, MACC1, MACF1, MACROD2, MAD1L1, MAD2L2, MADD, MAF, MAFA, MAFB, MAG, MAGEA11, MAGEB4, MAGEC1, MAGEC3, MAGED1, MAGED2, MAGEE2, MAGEL2, MAGI2, MAGT1, MAK, MALT1, MAML2, MAMLD1, MAN1A2, MAN1B1, MAN2A1, MAN2B1, MAN2C1, MANBA, MAOA, MAOB, MAP1A, MAP1B, MAP1LC3B2, MAP2, MAP2K1, MAP2K2, MAP2K3, MAP2K4, MAP2K7, MAP3K1, MAP3K14, MAP3K15, MAP3K20, MAP3K3, MAP3K6, MAP3K7, MAP3K8, MAP4K2, MAP4K4, MAP6, MAPK1, MAPK10, MAPK3, MAPK8, MAPK8IP3, MAPKAPK3, MAPKAPK5, MAPKBP1, MAPRE2, MAPRE3, MAPT, MARCH6, MARK1, MARK3, MARS, MARS2, MARVELD2, MASP1, MASP2, MAST1, MAST2, MASTL, MAT1A, MAT2A, MATN3, MATN4, MATR3, MAX, MBD1, MBD3, MBD4, MBD5, MBD6, MBL2, MBNL1, MBNL3, MBOAT7, MBTPS1, MBTPS2, MC1R, MC2R, MC3R, MC4R, MCAT, MCC, MCCC1, MCCC2, MCEE, MCF2, MCFD2, MCHR1, MCIDAS, MCM10, MCM2, MCM4, MCM5, MCM6, MCM7, MCM8, MCM9, MCOLN1, MCOLN3, MCPH1, MCTP2, MDGA2, MDH2, MDK, MDM2, MDN1, ME2, MECOM, MECP2, MECR, MED12, MED12L, MED13L, MED15, MED17, MED23, MED25, MED27, MED28, MED9, MEF2A, MEF2C, MEFV, MEGF10, MEGF11, MEGF6, MEGF8, MEGF9, MEI1, MEIOB, MEIS1, MEN1, MEOX1, MERTK, MESD, MESP2, MET, METTL13, METTL23, METTL27, METTL4, METTL5, MFAP2, MFAP4, MFAP5, MFF, MFGE8, MFHAS1, MFN2, MFRP, MFSD2A, MFSD8, MGARP, MGAT1, MGAT2, MGAT3, MGAT4A, MGAT4B, MGAT4C, MGAT5, MGAT5B, MGLL, MGME1, MGMT, MGP, MGST2, MGST3, MHRT, MIB1, MIB2, MICAL1, MICU1, MICU2, MID1, MID2, MIEF2, MIF, MINOS1, MINPP1, MIP, MIPEP, MIPOL1, MIR1225, MIR671, MITF, MKKS, MKL1, MKL2, MKS1, MLC1, MLF1, MLH1, MLH3, MLKL, MLLT10, MLLT11, MLLT3, MLPH, MLX, MLXIPL, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMD2, MME, MMEL1, MMGT1, MMP1, MMP13, MMP14, MMP19, MMP2, MMP20, MMP21, MMP25, MMP3, MMP8, MMP9, MN1, MNS1, MNX1, MOCOS, MOCS1, MOCS2, MOGAT2, MOGS, MOK, MORC2, MPC1, MPDU1, MPDZ, MPEG1, MPG, MPI, MPIG6B, MPL, MPLKIP, MPO, MPP5, MPP6, MPST, MPV17, MPZ, MPZL2, MR1, MRAP, MRAP2, MRAS, MRE11, MREG, MRM2, MRPL12, MRPL13, MRPL15, MRPL19, MRPL20, MRPL3, MRPL36, MRPL40, MRPL43, MRPL44, MRPL48, MRPL57, MRPS12, MRPS14, MRPS16, MRPS17, MRPS18A, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS35, MRPS7, MRRF, MRVI1, MS4A1, MS4A12, MS4A2, MSH2, MSH3, MSH6, MSL2, MSL3, MSMB, MSMO1, MSN, MSR1, MSRA, MSRB3, MSS51, MST1R, MSTN, MSTO1, MSX1, MSX2, MT3, MTA2, MTA3, MTAP, MTCH2, MTCL1, MTF1, MTFMT, MTHFD1, MTHFD1L, MTHFR, MTHFS, MTM1, MTMR14, MTMR2, MTMR8, MTMR9, MTNR1A, MTNR1B, MTO1, MTOR, MTPAP, MTR, MTRR, MTSS1, MTSS1L, MTTP, MTX2, MUC16, MUC5B, MUC7, MUS81, MUSK, MUT, MUTYH, MVD, MVK, MX2, MXI1, MXRA5, MXRA8, MYB, MYBPC1, MYBPC3, MYBPHL, MYC, MYCN, MYD88, MYF5, MYF6, MYH1, MYH10, MYH11, MYH14, MYH2, MYH3, MYH4, MYH6, MYH7, MYH7B, MYH8, MYH9, MYL1, MYL2, MYL3, MYL4, MYL9, MYLK, MYLK2, MYLPF, MYMK, MYO15A, MYO16, MYO1A, MYO1C, MYO1D, MYO1E, MYO1F, MYO1G, MYO1H, MYO3A, MYO5A, MYO5B, MYO5C, MYO6, MYO7A, MYO7B, MYO9A, MYO9B, MYOC, MYOCD, MYOD1, MYOF, MYOM1, MYOM2, MYORG, MYOT, MYOZ2, MYPN, MYRF, MYSM1, MYT1, MYT1L, N4BP1, NAA10, NAA15, NAALADL2, NABP1, NACC1, NADK, NADK2, NADSYN1, NAF1, NAGA, NAGLU, NAGPA, NAGS, NALCN, NANOS1, NANOS2, NANOS3, NANS, NAPRT, NARS, NARS2, NAT1, NAT2, NAT8, NAT8L, NAV2, NAXD, NAXE, NBAS, NBEA, NBEAL2, NBN, NBPF1, NCAPD2, NCAPD3, NCAPG2, NCAPH, NCBP1, NCDN, NCF2, NCF4, NCKAP1, NCKAP1L, NCKAP5, NCLN, NCOA1, NCOR1, NCOR2, NCS1, NCSTN, NDE1, NDN, NDNF, NDOR1, NDP, NDRG1, NDST1, NDST2, NDST3, NDST4, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB4, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEBL, NECAP1, NECAP2, NECTIN1, NECTIN4, NEDD4, NEDD4L, NEFH, NEFL, NEFM, NEGR1, NEIL1, NEIL2, NEIL3, NEK1, NEK10, NEK2, NEK8, NEK9, NEMF, NEO1, NEPRO, NEU1, NEU2, NEU4, NEUROD1, NEUROD2, NEUROG1, NEUROG3, NEXMIF, NEXN, NF1, NF2, NFASC, NFAT5, NFATC1, NFATC2, NFATC3, NFATC4, NFE2L1, NFIA, NFIB, NFIL3, NFIX, NFKB2, NFKBIA, NFKBID, NFKBIZ, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLH2, NHLRC1, NHLRC2, NHP2, NHS, NIN, NINJ1, NINL, NIPA1, NIPAL4, NIPBL, NIPSNAP1, NIPSNAP3A, NKAIN2, NKAP, NKX2-1, NKX2-2, NKX2-5, NKX2-6, NKX3-1, NKX3-2, NKX6-2, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NLRC4, NLRP1, NLRP12, NLRP14, NLRP2, NLRP3, NLRP5, NLRP7, NLRX1, NME1, NME5, NME7, NME8, NMNAT1, NMNAT2, NMT2, NNMT, NNT, NOBOX, NOC2L, NOD1, NOD2, NODAL, NOG, NOL3, NONO, NOP10, NOS1, NOS1AP, NOS2, NOS3, NOTCH1, NOTCH2, NOTCH2NL, NOTCH3, NOVA2, NPAS2, NPAS3, NPAT, NPC1, NPC1L1, NPC2, NPFFR2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPL, NPM1, NPPA, NPPC, NPR2, NPRL2, NPRL3, NPSR1, NPY, NPY1R, NPY2R, NQO1, NR0B1, NR0B2, NR1D1, NR1H2, NR1H3, NR1H4, NR1I2, NR1I3, NR2C2AP, NR2E1, NR2E3, NR2F1, NR2F2, NR3C1, NR3C2, NR4A1, NR4A2, NR4A3, NR5A1, NRAP, NRAS, NRCAM, NRG1, NRK, NRL, NRP2, NRROS, NRTN, NRXN1, NRXN2, NSD1, NSD2, NSDHL, NSMCE2, NSMCE3, NSMF, NSUN2, NSUN3, NSUN7, NT5C2, NT5E, NTF3, NTF4, NTHL1, NTM, NTN1, NTNG1, NTNG2, NTRK1, NTRK2, NTRK3, NUAK1, NUAK2, NUBPL, NUDT1, NUDT15, NUDT19, NUDT2, NUMA1, NUMB, NUP107, NUP133, NUP155, NUP160, NUP188, NUP205, NUP214, NUP37, NUP62, NUP85, NUP88, NUP93, NUP98, NUS1, NUTM1, NXN, NXNL1, NXPH1, NYX, OAS1, OAS2, OAT, OAZ3, OBSCN, OBSL1, OCA2, OCIAD2, OCLN, OCRL, ODAPH, ODC1, ODF1, OFD1, OGDH, OGG1, OGT, OLFM2, OLIG2, OLR1, OMG, OPA1, OPA3, OPCML, OPHN1, OPLAH, OPN1SW, OPRL1, OPRM1, OPTC, OPTN, OR10X1, OR13G1, OR1B1, OR2J3, OR2W3, OR51G1, OR52H1, OR52N4, OR5AC2, OR5H6, OR8K3, ORAI1, ORC1, ORC4, ORC6, ORMDL3, OSBPL2, OSGEP, OSGEPL1, OSMR, OSTM1, OTC, OTOA, OTOF, OTOG, OTOGL, OTOR, OTUD5, OTUD6B, OTUD7A, OTULIN, OTX1, OTX2, OVCH2, OVOL2, OXCT1, OXR1, OXSR1, P2RX1, P2RX2, P2RX5, P2RX7, P2RY12, P2RY4, P3H1, P3H2, P4HA2, P4HB, P4HTM, PAAF1, PABPC4L, PABPC5, PABPN1, PACRG, PACS1, PACS2, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH1B1, PAFAH1B3, PAH, PAK1, PAK3, PALB2, PALLD, PALM2-AKAP2, PAM16, PANK2, PANK4, PANX1, PAPPA2, PAPSS2, PARD3, PARD3B, PARK7, PARL, PARN, PARP1, PARS2, PASK, PATJ, PATL2, PAX1, PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8, PAX9, PBRM1, PBX1, PC, PCBD1, PCCA, PCCB, PCDH10, PCDH12, PCDH15, PCDH18, PCDH19, PCDH9, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA6, PCDHA7, PCDHA9, PCDHAC1, PCDHAC2, PCDHB4, PCGF2, PCK1, PCK2, PCLO, PCM1, PCMT1, PCNA, PCNT, PCOLCE, PCSK1, PCSK5, PCSK9, PCYT1A, PCYT2, PDCD1, PDCD10, PDCD6, PDCD6IP, PDE10A, PDE11A, PDE1C, PDE2A, PDE3A, PDE4B, PDE4D, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDE8B, PDGFB, PDGFRA, PDGFRB, PDGFRL, PDHA1, PDHA2, PDHB, PDHX, PDIA6, PDK1, PDK2, PDK3, PDK4, PDLIM3, PDLIM4, PDP1, PDPN, PDPR, PDSS1, PDSS2, PDX1, PDYN, PDZD7, PECR, PEG3, PEPD, PER1, PER2, PERM1, PERP, PET100, PET117, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX5L, PEX6, PEX7, PFKL, PFKM, PFN1, PGAM2, PGAM5, PGAP1, PGAP2, PGAP3, PGF, PGK1, PGM1, PGM3, PGR, PGRMC1, PHACTR1, PHB, PHB2, PHC1, PHEX, PHF10, PHF11, PHF2, PHF21A, PHF3, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHLPP2, PHOX2A, PHOX2B, PHRF1, PHYH, PHYKPL, PI4KA, PIBF1, PICALM, PICK1, PIDD1, PIEZO1, PIEZO2, PIF1, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGR, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIGZ, PIH1D3, PIK3AP1, PIK3C2A, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PIK3R5, PIKFYVE, PIM1, PIN1, PINK1, PIP5K1B, PIP5K1C, PIR, PISD, PITPNA, PITPNM3, PITRM1, PITX1, PITX2, PITX3, PIWIL1, PJVK, PKD1, PKD1L3, PKD2, PKDCC, PKHD1, PKLR, PKM, PKN1, PKN3, PKP1, PKP2, PLA2G2A, PLA2G4A, PLA2G5, PLA2G6, PLA2G7, PLAA, PLAG1, PLAGL1, PLAT, PLAU, PLCB1, PLCB2, PLCB3, PLCB4, PLCD1, PLCE1, PLCG2, PLCH2, PLCZ1, PLD1, PLD2, PLD3, PLD4, PLEC, PLEKHA5, PLEKHA7, PLEKHG2, PLEKHG4, PLEKHG5, PLEKHM2, PLG, PLIN1, PLK4, PLN, PLOD1, PLOD2, PLOD3, PLP1, PLP2, PLPBP, PLPP6, PLPPR2, PLS1, PLS3, PLSCR3, PLTP, PLVAP, PLXNA1, PLXNA3, PLXNA4, PLXNB1, PLXNB3, PMEL, PMEPA1, PMFBP1, PML, PMM2, PMP2, PMP22, PMPCA, PMPCB, PMS1, PMS2, PMVK, PNKD, PNKP, PNLDC1, PNLIP, PNMT, PNP, PNPLA1, PNPLA2, PNPLA4, PNPLA6, PNPLA7, PNPLA8, PNPO, PNPT1, POC1A, POC1B, POC5, PODXL, POF1B, POFUT1, POFUT2, POGLUT1, POGZ, POLA1, POLB, POLD1, POLD2, POLE, POLE2, POLG, POLG2, POLH, POLL, POLR1A, POLR1B, POLR1C, POLR1D, POLR2A, POLR2C, POLR2D, POLR3A, POLR3B, POLR3C, POLR3E, POLR3F, POLR3GL, POLR3H, POLR3K, POLRMT, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, POMZP3, PON1, PON2, PON3, POP1, POPDC3, POR, PORCN, POSTN, POT1, POTEF, POU1F1, POU2AF1, POU3F3, POU3F4, POU4F1, POU4F3, PPA2, PPARA, PPARG, PPARGC1A, PPARGC1B, PPCS, PPFIA1, PPIB, PPIL1, PPIP5K2, PPM1B, PPM1D, PPM1G, PPM1K, PPOX, PPP1CB, PPP1R12A, PPP1R13L, PPP1R15B, PPP1R17, PPP1R1A, PPP1R21, PPP1R3A, PPP1R3C, PPP2CA, PPP2R1B, PPP2R2A, PPP2R2B, PPP2R2C, PPP2R3C, PPP2R5D, PPP3CA, PPP3R1, PPT1, PPT2, PPY, PQBP1, PQLC2, PRADC1, PRB2, PRB3, PRB4, PRCC, PRCD, PRCP, PRDM12, PRDM13, PRDM16, PRDM5, PRDM6, PRDM8, PRDX1, PRDX4, PRDX6, PREPL, PREX1, PRF1, PRG4, PRICKLE1, PRICKLE2, PRICKLE3, PRIM1, PRIMPOL, PRKACB, PRKACG, PRKAG2, PRKAG3, PRKAR1A, PRKAR1B, PRKAR2B, PRKCA, PRKCD, PRKCG, PRKCH, PRKCSH, PRKCZ, PRKD1, PRKD2, PRKDC, PRKG1, PRKG2, PRKN, PRKRA, PRLH, PRLR, PRM1, PRM2, PRMT3, PRMT7, PRMT9, PRND, PRNP, PROC, PROCR, PRODH, PRODH2, PROK1, PROK2, PROKR1, PROKR2, PROM1, PROP1, PROS1, PROX1, PROX2, PROZ, PRPF3, PRPF31, PRPF39, PRPF4, PRPF6, PRPF8, PRPH, PRPH2, PRPS1, PRPS1L1, PRPS2, PRR12, PRRT2, PRRX1, PRRX2, PRSS1, PRSS12, PRSS21, PRSS56, PRSS58, PRSS8, PRTN3, PRUNE1, PRUNE2, PRX, PSAP, PSD3, PSEN1, PSEN2, PSENEN, PSMA3, PSMA7, PSMB10, PSMB4, PSMB8, PSMC3, PSMC3IP, PSMC5, PSMD12, PSMG2, PSPH, PSPN, PSTPIP1, PSTPIP2, PTAFR, PTBP2, PTCD1, PTCD3, PTCH1, PTCH2, PTCHD1, PTCHD3, PTDSS1, PTEN, PTF1A, PTGDR, PTGER2, PTGER4, PTGIR, PTGIS, PTGS1, PTGS2, PTH1R, PTHLH, PTK2B, PTK7, PTPN1, PTPN11, PTPN12, PTPN14, PTPN18, PTPN22, PTPN23, PTPN6, PTPRC, PTPRJ, PTPRK, PTPRN2, PTPRO, PTPRQ, PTPRR, PTPRT, PTPRU, PTPRZ1, PTRH2, PTRHD1, PTS, PTX3, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PXDN, PXMP2, PYCARD, PYCR1, PYCR2, PYGL, PYGM, PYHIN1, PYM1, PYROXD1, PYY, PZP, QARS, QDPR, QKI, QRICH1, QRICH2, QRSL1, RAB11A, RAB11B, RAB11FIP5, RAB18, RAB23, RAB25, RAB27A, RAB27B, RAB28, RAB29, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAB40A, RAB40AL, RAB43, RAB5B, RAB7A, RABGGTA, RABL3, RAC2, RAC3, RACK1, RAD21, RAD21L1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54B, RAD54L, RAF1, RAG1, RAG2, RAI1, RALA, RALGDS, RAMP2, RANBP1, RANBP17, RANBP2, RANGAP1, RANGRF, RAP1A, RAP1B, RAP1GDS1, RAPGEF1, RAPGEF2, RAPGEF4, RAPSN, RARA, RARB, RARG, RARS, RARS2, RASA1, RASA2, RASAL1, RASGRP1, RASGRP2, RASSF5, RAX, RAX2, RB1, RB1CC1, RBBP8, RBCK1, RBFOX1, RBFOX3, RBL1, RBL2, RBM10, RBM12, RBM15, RBM20, RBM28, RBM8A, RBMX, RBMXL2, RBP3, RBP4, RBP7, RBPJ, RBX1, RC3H1, RCBTB1, RCC2, RD3, RDH11, RDH12, RDH5, RDH8, RDX, REC114, REC8, RECQL, RECQL4, REEP1, REEP2, REEP6, REL, RELA, RELB, RELN, RELT, REN, RENBP, REPS1, REPS2, RERE, REST, RET, RETN, RETREG1, RFC1, RFC2, RFT1, RFWD3, RFX2, RFX3, RFX5, RFX6, RFX8, RFXANK, RFXAP, RGMA, RGN, RGR, RGS10, RGS2, RGS5, RGS7, RGS9, RGS9BP, RHAG, RHBDD2, RHBDF1, RHBDF2, RHEB, RHO, RHOA, RHOBTB2, RHOG, RHOH, RHOXF1, RIC1, RIC3, RILPL1, RIMS1, RIMS2, RIMS3, RIN2, RINT1, RIPK1, RIPK2, RIPK4, RIPOR2, RIPPLY2, RIT1, RLBP1, RLIM, RMND1, RMRP, RNASE1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNASET2, RNF113A, RNF125, RNF13, RNF135, RNF139, RNF168, RNF170, RNF2, RNF207, RNF212, RNF213, RNF216, RNF220, RNF31, RNF38, RNF43, RNF6, RNMT, RNPC3, ROBO1, ROBO2, ROBO3, ROBO4, ROCK1, ROGDI, ROM1, ROR1, ROR2, RORA, RORB, RORC, ROS1, RP1, RP1L1, RP2, RP9, RPA1, RPA4, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL10L, RPL11, RPL13, RPL15, RPL18, RPL19, RPL22, RPL23, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL36A-HNRNPH2, RPL38, RPL3L, RPL5, RPL9, RPN2, RPS10, RPS14, RPS15A, RPS17, RPS19, RPS20, RPS23, RPS24, RPS26, RPS27, RPS28, RPS29, RPS4Y1, RPS6KA3, RPS6KL1, RPS7, RPSA, RPTOR, RRAGA, RRAS, RRAS2, RREB1, RRH, RRM2B, RRP7A, RS1, RSC1A1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPO1, RSPO2, RSPO4, RSPRY1, RSRC1, RTEL1, RTL1, RTN2, RTN4IP1, RTN4R, RTTN, RUBCN, RUNX1, RUNX2, RUNX3, RUSC2, RUVBL1, RXFP2, RXRA, RXYLT1, RYR1, RYR2, RYR3, S1PR2, SACS, SAE1, SAG, SAGE1, SALL1, SALL2, SALL4, SAMD11, SAMD12, SAMD3, SAMD9, SAMD9L, SAMHD1, SAR1B, SARDH, SARS, SARS2, SART3, SASH1, SASH3, SASS6, SAT1, SATB1, SATB2, SATL1, SBDS, SBF1, SBF2, SC5D, SCAF4, SCAMP5, SCAPER, SCARB1, SCARB2, SCARF2, SCD5, SCGB1A1, SCGB3A2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN7A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1D, SCNN1G, SCO1, SCO2, SCP2, SCRIB, SCUBE2, SCUBE3, SCYL1, SCYL2, SDC2, SDC3, SDCCAG8, SDF4, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHB, SDHC, SDHD, SDK2, SDR9C7, SEC14L2, SEC14L3, SEC23A, SEC23B, SEC24C, SEC24D, SEC31A, SEC61A1, SEC61B, SEC63, SECISBP2, SELE, SELENBP1, SELENOI, SELENON, SELL, SELP, SELPLG, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA4A, SEMA4C, SEMA4D, SEMA4G, SEMA5A, SEMA6B, SEMA6D, SEMA7A, SEMG1, SEPSECS, SEPT12, SEPT5, SEPT9, SERAC1, SERPINA1, SERPINA10, SERPINA11, SERPINA3, SERPINA6, SERPINA7, SERPINB11, SERPINB5, SERPINB6, SERPINB7, SERPINB8, SERPINC1, SERPIND1, SERPINE1, SERPINF1, SERPINF2, SERPING1, SERPINH1, SERPINI1, SERPINI2, SESN2, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETDB1, SETX, SEZ6, SEZ6L2, SF3B1, SF3B4, SFI1, SFRP4, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGK2, SGMS2, SGO1, SGO2, SGPL1, SGSH, SGSM3, SH2B1, SH2B3, SH2D1A, SH2D3C, SH3BP2, SH3GL1, SH3KBP1, SH3PXD2B, SH3TC2, SHANK1, SHANK2, SHANK3, SHARPIN, SHBG, SHH, SHMT1, SHMT2, SHOC2, SHOX, SHOX2, SHPK, SHROOM2, SHROOM3, SHROOM4, SI, SIAE, SIAH1, SIGIRR, SIGLEC12, SIGMAR1, SIK1, SIK3, SIL1, SIM1, SIM2, SIN3A, SIPA1, SIPA1L1, SIPA1L3, SIRT1, SIRT3, SIRT5, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SKIV2L, SLAIN1, SLC10A1, SLC10A2, SLC10A7, SLC11A1, SLC11A2, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC12A7, SLC13A2, SLC13A3, SLC13A4, SLC13A5, SLC14A1, SLC15A1, SLC15A4, SLC16A1, SLC16A12, SLC16A2, SLC17A3, SLC17A5, SLC17A8, SLC17A9, SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC1A1, SLC1A3, SLC1A4, SLC1A5, SLC20A2, SLC22A1, SLC22A12, SLC22A18, SLC22A2, SLC22A3, SLC22A4, SLC22A5, SLC22A6, SLC22A9, SLC24A1, SLC24A2, SLC24A4, SLC24A5, SLC25A1, SLC25A10, SLC25A11, SLC25A12, SLC25A13, SLC25A15, SLC25A16, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A38, SLC25A39, SLC25A4, SLC25A40, SLC25A42, SLC25A46, SLC25A5, SLC25A6, SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A6, SLC26A7, SLC26A8, SLC26A9, SLC27A4, SLC27A5, SLC28A1, SLC28A2, SLC28A3, SLC29A2, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC2A4, SLC2A5, SLC2A7, SLC2A9, SLC30A10, SLC30A2, SLC30A5, SLC30A8, SLC30A9, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC35E2B, SLC35F6, SLC35G2, SLC36A2, SLC37A3, SLC37A4, SLC38A8, SLC39A13, SLC39A14, SLC39A4, SLC39A5, SLC39A7, SLC39A8, SLC3A1, SLC3A2, SLC40A1, SLC41A1, SLC41A2, SLC41A3, SLC44A1, SLC44A2, SLC44A4, SLC45A1, SLC45A2, SLC46A1, SLC47A1, SLC47A2, SLC4A1, SLC4A10, SLC4A11, SLC4A3, SLC4A4, SLC4A7, SLC4A8, SLC51A, SLC51B, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A11, SLC5A2, SLC5A5, SLC5A6, SLC5A7, SLC5A8, SLC6A1, SLC6A11, SLC6A12, SLC6A13, SLC6A14, SLC6A17, SLC6A18, SLC6A19, SLC6A2, SLC6A20, SLC6A3, SLC6A4, SLC6A5, SLC6A6, SLC6A8, SLC6A9, SLC7A10, SLC7A11, SLC7A14, SLC7A2, SLC7A3, SLC7A4, SLC7A6OS, SLC7A7, SLC7A9, SLC9A1, SLC9A3, SLC9A3R1, SLC9A6, SLC9A7, SLC9A8, SLC9A9, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1C1, SLCO2A1, SLCO2B1, SLCO5A1, SLFN12L, SLFN14, SLFN5, SLIT2, SLIT3, SLITRK1, SLITRK5, SLITRK6, SLMAP, SLPI, SLURP1, SLX4, SMAD1, SMAD2, SMAD3, SMAD4, SMAD5, SMAD6, SMAD7, SMAD9, SMARCA1, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCD2, SMARCE1, SMC1A, SMC3, SMCHD1, SMG6, SMG8, SMG9, SMIM1, SMIM3, SMIM6, SMN1, SMN2, SMO, SMOC1, SMOC2, SMOX, SMPD1, SMPD3, SMPD4, SMPX, SMS, SMUG1, SNAI2, SNAP25, SNAP29, SNAP47, SNCA, SNCAIP, SNCB, SND1, SNIP1, SNRK, SNRNP200, SNRNP27, SNRNP35, SNRPA, SNRPB, SNRPE, SNRPN, SNTA1, SNTG1, SNTG2, SNURF, SNX10, SNX14, SNX27, SNX3, SOAT1, SOAT2, SOBP, SOCS3, SOD1, SOD2, SOD3, SOGA3, SOHLH1, SOHLH2, SON, SORCS1, SORD, SORL1, SORT1, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX18, SOX2, SOX3, SOX4, SOX5, SOX6, SOX7, SOX9, SP110, SP140, SP7, SP8, SPACA1, SPAG1, SPAG17, SPAM1, SPARC, SPARCL1, SPART, SPAST, SPATA13, SPATA16, SPATA21, SPATA45, SPATA5, SPATA5L1, SPATA6, SPATA7, SPATC1L, SPECC1, SPECC1L, SPEF2, SPEG, SPEN, SPG11, SPG21, SPG7, SPI1, SPIB, SPIDR, SPINK1, SPINK2, SPINK5, SPINT2, SPNS2, SPO11, SPOP, SPP1, SPPL2A, SPR, SPRED1, SPRED2, SPRN, SPRTN, SPRY1, SPRY2, SPRY3, SPRY4, SPSB1, SPTA1, SPTAN1, SPTB, SPTBN1, SPTBN2, SPTBN4, SPTBN5, SPTLC1, SPTLC2, SQOR, SQSTM1, SRA1, SRARP, SRC, SRCAP, SRD5A2, SRD5A3, SREBF1, SREBF2, SRGAP1, SRGAP2, SRGAP3, SRI, SRM, SRP54, SRP72, SRPK3, SRPX, SRPX2, SRR, SRRM2, SRRT, SRSF11, SRSF2, SRY, SS18, SS18L1, SSBP1, SSH1, SSPN, SSR3, SSR4, SSRP1, SSTR5, SSU72, SSX1, ST14, ST20-MTHFS, ST3GAL1, ST3GAL2, ST3GAL3, ST3GAL4, ST3GAL5, ST3GAL6, ST5, ST6GAL1, ST6GAL2, ST6GALNAC1, ST6GALNAC2, ST6GALNAC3, ST6GALNAC4, ST6GALNAC5, ST6GALNAC6, ST7, ST8SIA1, ST8SIA2, ST8SIA3, ST8SIA4, ST8SIA5, ST8SIA6, STAB2, STAC3, STAG1, STAG2, STAG3, STAMBP, STAP1, STAR, STARD7, STAT1, STAT2, STAT3, STAT4, STAT5A, STAT5B, STEAP3, STIL, STIM1, STIM2, STK11, STK11IP, STK3, STK36, STK39, STK4, STN1, STON1, STOX1, STRA6, STRADA, STRC, STS, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STX2, STX3, STXBP1, STXBP2, STXBP3, SUCLA2, SUCLG1, SUCLG2, SUCO, SUFU, SUGCT, SULF1, SULT1C2, SULT2A1, SULT2B1, SULT4A1, SUMF1, SUMF2, SUMO4, SUN5, SUOX, SURF1, SUZ12, SV2B, SVBP, SVIL, SYCE1, SYCE2, SYCP2, SYCP3, SYK, SYN1, SYN2, SYNCRIP, SYNE1, SYNE2, SYNE4, SYNGAP1, SYNGR1, SYNJ1, SYNJ2, SYNM, SYNPO, SYNPO2, SYNRG, SYP, SYT1, SYT14, SYT2, SYTL3, SYTL4, SYTL5, SZT2, TAAR1, TAAR9, TAB2, TAC3, TACO1, TACR1, TACR3, TACSTD2, TADA2A, TAF1, TAF13, TAF15, TAF1A, TAF1C, TAF1L, TAF2, TAF4B, TAF6, TAF8, TAL1, TAL2, TALDO1, TANC2, TANGO2, TAOK1, TAOK2, TAPT1, TARDBP, TARP, TARS, TARS2, TAS1R1, TAS1R3, TAS2R16, TAS2R3, TAS2R30, TAS2R38, TAS2R46, TASP1, TAT, TAZ, TBATA, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D32, TBC1D4, TBC1D7, TBC1D8B, TBCD, TBCE, TBCK, TBK1, TBL1X, TBL1XR1, TBL1Y, TBL2, TBP, TBR1, TBX1, TBX10, TBX15, TBX18, TBX19, TBX2, TBX20, TBX21, TBX22, TBX3, TBX4, TBX5, TBX6, TBXA2R, TBXAS1, TBXT, TCAP, TCF12, TCF20, TCF21, TCF3, TCF4, TCF7L1, TCF7L2, TCHH, TCIRG1, TCL1A, TCL1B, TCN1, TCN2, TCOF1, TCTE1, TCTE3, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDO2, TDP1, TDP2, TDRD6, TDRD7, TDRD9, TEAD1, TEC, TECPR2, TECR, TECRL, TECTA, TEK, TEKT2, TELO2, TENM1, TENM3, TENT5A, TERB1, TERB2, TERC, TERF2, TERF2IP, TERT, TET1, TET2, TET3, TEX11, TEX14, TEX15, TEX37, TF, TFAM, TFAP2A, TFAP2B, TFB1M, TFE3, TFF1, TFG, TFPI, TFR2, TFRC, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBI, TGFBR1, TGFBR2, TGFBR3, TGIF1, TGM1, TGM2, TGM3, TGM5, TGM6, TH, THAP1, THAP3, THAP7, THBD, THBS1, THBS2, THG1L, THOC2, THOC6, THPO, THRA, THRB, THSD1, THSD4, THSD7A, TIA1, TICAM1, TIE1, TIMM13, TIMM22, TIMM44, TIMM50, TIMM8A, TIMM9, TIMMDC1, TIMP3, TINAG, TINAGL1, TINF2, TIRAP, TJP1, TJP2, TK1, TK2, TKFC, TKT, TLE6, TLK2, TLL1, TLN2, TLR1, TLR2, TLR3, TLR4, TLR5, TLR6, TLR9, TLX1, TLX2, TLX3, TM2D3, TM4SF19, TM4SF20, TM6SF2, TMC1, TMC2, TMC6, TMC8, TMCO1, TMED2, TMEM106B, TMEM107, TMEM114, TMEM126A, TMEM126B, TMEM127, TMEM132E, TMEM135, TMEM138, TMEM165, TMEM173, TMEM187, TMEM199, TMEM216, TMEM218, TMEM222, TMEM231, TMEM237, TMEM240, TMEM251, TMEM260, TMEM270, TMEM38B, TMEM43, TMEM63A, TMEM65, TMEM67, TMEM70, TMEM8A, TMEM92, TMEM94, TMEM98, TMF1, TMIE, TMLHE, TMPO, TMPRSS15, TMPRSS2, TMPRSS3, TMPRSS5, TMPRSS6, TMTC2, TMTC3, TMX2, TMX3, TNC, TNF, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF14, TNFRSF18, TNFRSF1A, TNFRSF1B, TNFRSF6B, TNFRSF8, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TNFSF14, TNFSF4, TNIK, TNIP1, TNK2, TNKS, TNNC1, TNNI2, TNNI3, TNNI3K, TNNT1, TNNT2, TNNT3, TNP1, TNPO2, TNPO3, TNR, TNRC6A, TNRC6B, TNS2, TNS3, TNXB, TOE1, TOGARAM1, TOM1, TOMM40, TONSL, TOP1, TOP1MT, TOP2A, TOP2B, TOP3A, TOP3B, TOPORS, TOR1A, TOR1AIP1, TOR1AIP2, TP53, TP53BP1, TP53BP2, TP53INP2, TP53RK, TP63, TP73, TPCN2, TPH1, TPH2, TPI1, TPK1, TPM1, TPM2, TPM3, TPM4, TPMT, TPO, TPP1, TPRG1L, TPRKB, TPRN, TPSD1, TRADD, TRAF3, TRAF3IP2, TRAF7, TRAIP, TRAK1, TRAP1, TRAPPC1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC4, TRAPPC6A, TRAPPC6B, TRAPPC9, TRDN, TREH, TREM2, TRERF1, TREX1, TREX2, TRH, TRHR, TRIB2, TRIB3, TRIM2, TRIM21, TRIM24, TRIM28, TRIM32, TRIM33, TRIM36, TRIM37, TRIM44, TRIM63, TRIM71, TRIM8, TRIO, TRIOBP, TRIP11, TRIP12, TRIP13, TRIP4, TRIT1, TRMT10A, TRMT10C, TRMT2A, TRMT5, TRMU, TRNT1, TROAP, TROVE2, TRPC3, TRPC4, TRPC6, TRPM1, TRPM2, TRPM3, TRPM4, TRPM6, TRPM7, TRPS1, TRPV1, TRPV3, TRPV4, TRPV6, TRRAP, TSACC, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSG101, TSGA10, TSHB, TSHR, TSHZ1, TSHZ3, TSLP, TSPAN12, TSPAN14, TSPAN7, TSPAN8, TSPEAR, TSPO, TSPOAP1, TSPY1, TSPYL1, TSPYL2, TSR2, TSSC4, TSSK4, TST, TTBK2, TTC12, TTC19, TTC21A, TTC21B, TTC25, TTC26, TTC29, TTC37, TTC5, TTC7A, TTC8, TTF2, TTI2, TTLL1, TTLL10, TTLL5, TTN, TTPA, TTR, TUB, TUBA1A, TUBA1B, TUBA1C, TUBA3D, TUBA4A, TUBA8, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB4B, TUBB6, TUBB8, TUBG1, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5, TUBGCP6, TUFM, TUFT1, TULP1, TUSC3, TWIST1, TWIST2, TWNK, TWSG1, TXN2, TXNDC15, TXNIP, TXNL4A, TXNRD1, TXNRD2, TYK2, TYMP, TYMS, TYR, TYROBP, TYRP1, U2AF2, UACA, UBA1, UBA2, UBA5, UBAC2, UBAP1, UBB, UBE2A, UBE2B, UBE2J2, UBE2T, UBE3A, UBE3B, UBE3C, UBE4A, UBE4B, UBIAD1, UBL4A, UBOX5, UBQLN1, UBQLN2, UBR1, UBR2, UBR3, UBR4, UBR5, UBR7, UBTF, UCHL1, UCN, UCP1, UCP2, UCP3, UFC1, UFM1, UFSP2, UGCG, UGDH, UGGT1, UGGT2, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT2A1, UGT2B10, UGT2B11, UGT2B17, UGT2B4, UGT2B7, UGT8, UIMC1, ULK4, UMOD, UMPS, UNC119, UNC13A, UNC13B, UNC13D, UNC45A, UNC45B, UNC50, UNC5C, UNC5CL, UNC79, UNC80, UNG, UNKL, UPB1, UPF1, UPF3B, UPK2, UPK3A, UQCC2, UQCC3, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRQ, UROC1, UROD, UROS, USB1, USF1, USF3, USH1C, USH1G, USH2A, USP1, USP15, USP18, USP26, USP27X, USP44, USP45, USP46, USP48, USP53, USP8, USP9X, USP9Y, UST, UTF1, UTP25, UTP4, UTRN, UVSSA, VAC14, VAMP1, VAMP2, VAMP3, VAMP7, VANGL1, VANGL2, VAPB, VARS, VARS2, VASH1, VAV1, VAX1, VCAM1, VCAN, VCL, VCP, VCX3B, VDAC1, VDAC2, VDR, VEGFA, VEGFC, VEZT, VHL, VHLL, VIL1, VILL, VIM, VIPAS39, VKORC1, VLDLR, VMA21, VNN1, VPS11, VPS13A, VPS13B, VPS13C, VPS13D, VPS16, VPS33A, VPS33B, VPS35, VPS35L, VPS37A, VPS37D, VPS39, VPS41, VPS45, VPS4A, VPS51, VPS53, VPS54, VPS8, VRK1, VRK3, VSIG2, VSIG4, VSX1, VSX2, VWA1, VWA2, VWA3B, VWC2L, VWF, WAC, WARS, WARS2, WAS, WASF1, WASF3, WASHC4, WASHC5, WBP11, WBP2, WDFY3, WDPCP, WDR1, WDR11, WDR13, WDR19, WDR26, WDR34, WDR35, WDR36, WDR37, WDR44, WDR45, WDR48, WDR60, WDR62, WDR63, WDR66, WDR72, WDR73, WDR81, WDR90, WDTC1, WEE2, WFDC1, WFS1, WHRN, WIF1, WIPF1, WIPI2, WISP3, WLS, WNK1, WNK2, WNK3, WNK4, WNT1, WNT10A, WNT10B, WNT2B, WNT3, WNT3A, WNT4, WNT5A, WNT7A, WNT9B, WRAP53, WRAP73, WRN, WT1, WWC1, WWOX, WWTR1, XBP1, XCL2, XDH, XIAP, XK, XKRX, XPA, XPC, XPNPEP2, XPNPEP3, XPO1, XPO5, XPR1, XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XYLT1, XYLT2, YAP1, YARS, YARS2, YDJC, YEATS2, YIF1B, YIPF5, YIPF7, YLPM1, YME1L1, YPEL2, YRDC, YTHDC2, YWHAE, YWHAG, YWHAZ, YY1, YY1AP1, ZAN, ZAP70, ZBTB11, ZBTB16, ZBTB17, ZBTB18, ZBTB20, ZBTB24, ZBTB40, ZBTB41, ZBTB42, ZBTB48, ZBTB7A, ZC3H14, ZC3H4, ZC3HC1, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC17, ZCCHC8, ZDBF2, ZDHHC15, ZDHHC17, ZDHHC5, ZDHHC9, ZEB1, ZEB2, ZFAT, ZFHX2, ZFHX3, ZFP36, ZFP36L1, ZFP36L2, ZFP57, ZFP69, ZFP90, ZFPM1, ZFPM2, ZFYVE19, ZFYVE26, ZFYVE27, ZHX3, ZIC1, ZIC2, ZIC3, ZIC4, ZMAT5, ZMIZ1, ZMPSTE24, ZMYM2, ZMYM3, ZMYM6, ZMYND10, ZMYND15, ZNF141, ZNF142, ZNF148, ZNF160, ZNF213, ZNF215, ZNF260, ZNF292, ZNF335, ZNF34, ZNF341, ZNF365, ZNF385B, ZNF395, ZNF407, ZNF408, ZNF41, ZNF420, ZNF423, ZNF462, ZNF469, ZNF480, ZNF507, ZNF513, ZNF526, ZNF565, ZNF592, ZNF644, ZNF674, ZNF687, ZNF699, ZNF711, ZNF713, ZNF74, ZNF750, ZNF75D, ZNF80, ZNF804A, ZNF81, ZNFX1, ZNHIT3, ZNHIT6, ZP1, ZP2, ZP3, ZP4, ZPBP, ZPBP2, ZPR1, ZRSR2, ZSWIM6, ZWILCH ( 6714 遺伝子 )
検体
血液
唾液* 口腔粘膜ぬぐい液*
*唾液・口腔ぬぐい液の場合、遠隔地の方でもオンライン診療（ビデオスルーでの診察の事をいいます）で遺伝カウンセリングをしたのち、検体を当院にお送りいただく形で、当院にお越しにならずに検査が可能です。遠方の方でもお受けいただけます。
検査の限界
エクソーム／完全解析は、一個人（プローバンドのみ）を対象とした表現型主導型の検査です。家族歴および臨床情報は、すべてのクリニカル・エクソーム検査オーダーに必要です。検査適応や臨床表現型に合致しない偶発所見や二次所見は定期的に報告されません。すべてのシーケンス技術には限界があります。この解析は次世代シーケンサー（NGS）により行われ、コーディング領域とスプライシングジャンクションを調べるように設計されています。次世代シーケンス技術および当社のバイオインフォマティクス解析では、偽遺伝子配列やその他の高相同配列の寄与は大幅に減少しますが、それでも時折、シーケンス解析および欠失／重複解析の両方において、病原性バリアントアレルを同定するアッセイの技術的能力を阻害する可能性があります。サンガー配列決定は、品質スコアが低いバリアントを確認し、カバレッジ基準を満たすために使用されます。オーダーがあれば、欠失／重複解析は、1つの遺伝子全体（頬ぬぐい検体および全血検体）を含み、2つ以上の連続したエクソンサイズ（全血検体のみ）のゲノム領域の変化を同定することができます。同定された推定欠失または重複は、直交法（qPCR または MLPA）によって確認されます。本アッセイでは、転座や逆位、ほとんどの反復拡大（例えば、トリヌクレオチドやヘキサヌクレオチド）、ほとんどの制御領域（プロモーター領域）や深いイントロン領域（エクソンから 20bp 以上）の変化など（ただし、これらに限定されない）、疾患の原因となる可能性のある特定のタイプのゲノム変化は検出されません。リピートエクスパンション解析を実施した場合、大きなエクスパンションに存在する正確なリピート数を引き出せない可能性があります。このアッセイは、体細胞変異やモザイク変異の検出用に設計または検証されていません。
特記事項
| 遺伝子 | 注意事項 |
|---|---|
| ALG1 | 高度に相同な領域の干渉により、現在の検査方法ではALG1遺伝子（NM_019109.4）のエクソン6-13の変異を検出する感度が低くなっています。 |
| CD40LG | 現在の検査方法では、この遺伝子の三塩基リピートの伸長は評価しません。 |
| DIP2B | 現在の検査方法では、この遺伝子の三塩基リピートの伸長は評価しません。 |
| DUOX2 | 高度に相同な遺伝子DUOX1による大きな干渉のため、現在の検査方法ではDUOX2遺伝子（NM_014080.5）のエクソン6-8の変異を信頼性高く検出できません。 |
| GALNT12 | 高GC含量のため、GALNT12遺伝子（NM_024642.4）のエクソン1にあるコピー数変異は信頼性高く検出できず、報告されません。 |
| IL11RA | 現在の検査方法では、この遺伝子のリピート伸長は評価しません。 |
| MTHFR | ACMGの推奨により、MTHFR遺伝子の2つの一般的な多型 – c.1286A>C（p.Glu429Ala, 別名c.1298A>C）およびc.665C>T（p.Ala222Val, 別名c.677C>T） – は、臨床的有用性が十分でないため本検査では報告されません（PubMed: 23288205）。 |
| PIK3CA | PIK3CAの病的変異の大部分は受精後に生じ、モザイク状態となるため、複数の組織を検査する必要があります。PIK3CAの病的変異が検出されなかった場合でも、臨床診断を否定するものではありません（PubMed: 23946963）。 |
| RPGR | 本アッセイはRPGR遺伝子（NM_001034853.1）の重要な「ORF15」領域におけるほとんどの病的変異を検出可能ですが、この座位の複雑さのため、現在の検査では一部の領域（chrX(GRCh37):38144792-38146498）における変異の存在を完全に除外することはできません。 |
| RUNX2 | 現在の検査方法では、この遺伝子の三塩基リピートの伸長は評価しません。 |
| SMN2 | SMN2（NM_017411.3）の現在の検査方法は、SMN1において診断的な結果が検出された場合に限り、エクソン7-8の配列解析および欠失/重複解析を行います。それ以外の領域の解析は行いません。 |
| SOX3 | 現在の検査方法では、この遺伝子の三塩基リピートの伸長は評価しません。 |
| TPRN | この遺伝子のエクソン1は現在の配列解析方法では解析できないため、この領域の配列解析および欠失/重複解析は行われません。 |
| ZIC2 | 現在の検査方法では、この遺伝子の三塩基リピートの伸長は評価しません。 |
| ZIC3 | 現在の検査方法では、この遺伝子の三塩基リピートの伸長は評価しません。 |
結果が出るまでの期間
5－7週間
料金
440000万円（税込み、遺伝カウンセリング料金は別途30分16500円）
カバレッジ
カバレッジについての説明は別ページをご覧ください。
96% at 20x
この記事の筆者：仲田洋美（医師）
